Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
Tóm tắt
Từ khóa
Tài liệu tham khảo
Casanova, 2002, Genetic dissection of immunity to mycobacteria: the human model, Annu Rev Immunol, 20, 581, 10.1146/annurev.immunol.20.081501.125851
Levin, 1995, Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?, Lancet, 345, 79, 10.1016/S0140-6736(95)90059-4
Casanova, 1995, Immunological conditions of children with BCG disseminated infection, Lancet, 346, 581, 10.1016/S0140-6736(95)91421-8
Mimouni, 1951, Our experiences in three years of BCG vaccination at the center of the O.P.H.S. at Constantine; study of observed cases (25 cases of complications from BCG vaccination), Alger Medicale, 55, 1138
Ulgenalp, 1973, Olumle sonuclanan jeneralize BCG enfeksiyonu, Tuberk Toraks, 21, 11
Sicevic, 1972, Generalized BCG tuberculosis with fatal course in two sisters, Acta Paediatr Scand, 61, 178, 10.1111/j.1651-2227.1972.tb15922.x
Heyne, 1976, Generalized familial semibenign BCG infection, salmonella osteomyelitis and intestinal pseudotuberculosis—due to a familial defect of the macrophage system? (author's transl), Eur J Pediatr, 121, 179, 10.1007/BF00445481
Van der Hoeven, 1958, An unusual acid-fast bacillus causing systemic disease and death in a child; with special reference to disseminated osteomyelitis and intracellular parasitism, Am J Clin Pathol, 29, 433, 10.1093/ajcp/29.5.433
Buhler, 1953, Human infection with atypical acid-fast organism, Am J Clin Pathol, 23, 363, 10.1093/ajcp/23.4.363
Engbaek, 1964, Three cases in the same family of fatal infection with M. avium, Acta Tuberc Pneumol Scand, 45, 105
Al-Muhsen, 2008, The genetic heterogeneity of Mendelian susceptibility to mycobacterial diseases, J Allergy Clin Immunol, 122, 1043, 10.1016/j.jaci.2008.10.037
Filipe-Santos, 2006, Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features, Semin Immunol, 18, 347, 10.1016/j.smim.2006.07.010
Holland, 2007, Interferon gamma, IL-12, IL-12R and STAT-1 immunodeficiency diseases: disorders of the interface of innate and adaptive immunity, Immunol Res, 38, 342, 10.1007/s12026-007-0045-8
Holland, 2014, Inherited disorders of the interleukin-12-interleukin-23/interferon-g-circuit, 450
Rosenzweig, 2005, Defects in the interferon-gamma and interleukin-12 pathways, Immunol Rev, 203, 38, 10.1111/j.0105-2896.2005.00227.x
Cottle, 2011, Mendelian susceptibility to mycobacterial disease, Clin Genet, 79, 17, 10.1111/j.1399-0004.2010.01510.x
Haverkamp, 2014, Nontuberculous mycobacterial infections in children with inborn errors of the immune system, J Infect, 68, S134, 10.1016/j.jinf.2013.09.024
Ramirez-Alejo, 2014, Innate defects of the IL-12/IFN-gamma axis in susceptibility to infections by mycobacteria and salmonella, J Interferon Cytokine Res, 34, 307, 10.1089/jir.2013.0050
Boisson-Dupuis, 2011, IL-12Rbeta1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey, PLoS ONE, 6, e18524, 10.1371/journal.pone.0018524
Tabarsi, 2011, Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency, J Clin Immunol, 31, 537, 10.1007/s10875-011-9523-9
Caragol, 2003, Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency, Clin Infect Dis, 37, 302, 10.1086/375587
Bustamante, 2011, Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease, Nat Immunol, 12, 213, 10.1038/ni.1992
Jouanguy, 1997, Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis, J Clin Invest, 100, 2658, 10.1172/JCI119810
Alcais, 2005, Tuberculosis in children and adults: two distinct genetic diseases, J Exp Med, 202, 1617, 10.1084/jem.20052302
Ozbek, 2005, Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis, Clin Infect Dis, 40, e55, 10.1086/427879
Picard, 2002, Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds, Am J Hum Genet, 70, 336, 10.1086/338625
Chapgier, 2006, Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease, PLoS Genet, 2, e131, 10.1371/journal.pgen.0020131
de Beaucoudrey, 2010, Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries, Medicine (Baltimore), 89, 381, 10.1097/MD.0b013e3181fdd832
Prando, 2013, Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds, Medicine (Baltimore), 92, 109, 10.1097/MD.0b013e31828a01f9
Ozen, 2006, Recurrent Salmonella bacteremia in interleukin-12 receptor beta1 deficiency, J Trop Pediatr, 52, 296, 10.1093/tropej/fml001
Ouederni, 2014, Clinical features of Candidiasis in patients with inherited interleukin 12 receptor beta1 deficiency, Clin Infect Dis, 58, 204, 10.1093/cid/cit722
Aytekin, 2011, Bacille Calmette-Guerin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency, J Investig Allergol Clin Immunol, 21, 401
de Beaucoudrey, 2008, Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells, J Exp Med, 205, 1543, 10.1084/jem.20080321
Ramirez-Alejo, 2013, Molecular analysis for patients with IL-12 receptor beta1 deficiency, Clin Genet, 86, 161, 10.1111/cge.12253
Rezai, 2008, Cryptococcosis and deficiency of interleukin12r, Pediatr Infect Dis J, 27, 673, 10.1097/INF.0b013e318179263a
Akar, 2014, Congenital IL-12R1beta receptor deficiency and thrombophilia in a girl homozygous for an IL12RB1 mutation and compound heterozygous for MTFHR mutations: A case report and literature review, Eur J Microbiol Immunol (Bp), 4, 83, 10.1556/EuJMI.4.2014.1.8
Roesler, 1999, Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options, Exp Hematol, 27, 1368, 10.1016/S0301-472X(99)00077-6
Pedraza, 2010, Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency, Pediatrics, 126, e971, 10.1542/peds.2009-2504
Luangwedchakarn, 2009, A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand, Asian Pac J Allergy Immunol, 27, 161
Moraes-Vasconcelos, 2005, Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor, Clin Infect Dis, 41, e31, 10.1086/432119
Zerbe, 2005, Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency, Clin Infect Dis, 41, e38, 10.1086/432120
Vinh, 2009, Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency, Clin Infect Dis, 49, e62, 10.1086/605532
Vinh, 2011, Interleukin-12 receptor beta1 deficiency predisposing to disseminated Coccidioidomycosis, Clin Infect Dis, 52, e99, 10.1093/cid/ciq215
Sanal, 2007, A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis, Pediatr Infect Dis J, 26, 366, 10.1097/01.inf.0000258696.64507.0f
Sologuren, 2011, Partial recessive IFN-gammaR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds, Hum Mol Genet, 20, 1509, 10.1093/hmg/ddr029
Dorman, 2004, Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies, Lancet, 364, 2113, 10.1016/S0140-6736(04)17552-1
Dorman, 1998, Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection, J Clin Invest, 101, 2364, 10.1172/JCI2901
Dorman, 1999, Viral infections in interferon-gamma receptor deficiency, J Pediatr, 135, 640, 10.1016/S0022-3476(99)70064-8
Roesler, 2011, Meningoencephalitis caused by varicella-zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency, Pediatr Infect Dis J, 30, 265, 10.1097/INF.0b013e3181f6f78a
Bax, 2013, B-cell lymphoma in a patient with complete interferon gamma receptor 1 deficiency, J Clin Immunol, 33, 1062, 10.1007/s10875-013-9907-0
Toyoda, 2010, Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency, J Med Genet, 47, 631, 10.1136/jmg.2009.072108
Cardenes, 2010, Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency, J Med Genet, 47, 635, 10.1136/jmg.2009.071910
Camcioglu, 2004, HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency, J Pediatr, 144, 519, 10.1016/j.jpeds.2003.11.012
Taramasso, 2014, Pineal germinoma in a child with interferon-gamma receptor 1 deficiency. Case report and literature review, J Clin Immunol, 10.1007/s10875-014-0098-0
Zhang, 2013, An update on viral association of human cancers, Arch Virol, 158, 1433, 10.1007/s00705-013-1623-9
Sarid, 2011, Viruses and human cancer: from detection to causality, Cancer Lett, 305, 218, 10.1016/j.canlet.2010.09.011
Novelli, 2004, The role of IL-12, IL-23 and IFN-gamma in immunity to viruses, Cytokine Growth Factor Rev, 15, 367, 10.1016/j.cytogfr.2004.03.009
Casanova, 2008, Revisiting human primary immunodeficiencies, J Intern Med, 264, 115, 10.1111/j.1365-2796.2008.01971.x
Sancho-Shimizu, 2011, Inborn errors of anti-viral interferon immunity in humans, Curr Opin Virol, 1, 487, 10.1016/j.coviro.2011.10.016
Alcais, 2009, Human genetics of infectious diseases: between proof of principle and paradigm, J Clin Invest, 119, 2506, 10.1172/JCI38111
Casanova, 2013, The genetic theory of infectious diseases: a brief history and selected illustrations, Annu Rev Genomics Hum Genet, 14, 215, 10.1146/annurev-genom-091212-153448
Casanova, 2013, Immunology taught by human genetics, Cold Spring Harb Symp Quant Biol, 78, 157, 10.1101/sqb.2013.78.019968
Jouanguy, 1996, Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection, N Engl J Med, 335, 1956, 10.1056/NEJM199612263352604
Newport, 1996, A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection, N Engl J Med, 335, 1941, 10.1056/NEJM199612263352602
Hambleton, 2011, IRF8 mutations and human dendritic-cell immunodeficiency, N Engl J Med, 365, 127, 10.1056/NEJMoa1100066
Bogunovic, 2012, Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency, Science, 337, 1684, 10.1126/science.1224026
Filipe-Santos, 2006, X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production, J Exp Med, 203, 1745, 10.1084/jem.20060085
Boisson-Dupuis, 2012, Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes, Curr Opin Immunol, 24, 364, 10.1016/j.coi.2012.04.011
Puel, 2004, Inherited disorders of NF-kappaB-mediated immunity in man, Curr Opin Immunol, 16, 34, 10.1016/j.coi.2003.11.013
Picard, 2013, Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency, Clin Microbiol Rev, 24, 490, 10.1128/CMR.00001-11
Salem, 2013, Genetic determinants of susceptibility to mycobacterial infections: IRF8, a new kid on the block, Adv Exp Med Biol, 783, 45, 10.1007/978-1-4614-6111-1_3
Roos, 2014, Molecular diagnosis of chronic granulomatous disease, Clin Exp Immunol, 175, 139, 10.1111/cei.12202
Salem, 2014, Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation, Blood, 10.1182/blood-2014-04-570879
Reichenbach, 2001, Mycobacterial diseases in primary immunodeficiencies, Curr Opin Allergy Clin Immunol, 1, 503, 10.1097/00130832-200112000-00003
Boisson-Dupuis, 2014, Inherited and acquired immunodeficiencies underlying tuberculosis in childhood, Immunol Rev
Vinh, 2010, Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia, Blood, 115, 1519, 10.1182/blood-2009-03-208629
Hsu, 2011, Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome, Blood, 118, 2653, 10.1182/blood-2011-05-356352
Dickinson, 2014, The evolution of cellular deficiency in GATA2 mutation, Blood, 123, 863, 10.1182/blood-2013-07-517151
Spinner, 2014, GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity, Blood, 123, 809, 10.1182/blood-2013-07-515528
Camargo, 2013, MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature, Clin Infect Dis, 57, 697, 10.1093/cid/cit368
Abel, 2014, Human genetics of tuberculosis: a long and winding road, Philos Trans R Soc Lond B Biol Sci, 369, 20130428, 10.1098/rstb.2013.0428
Jouanguy, 2000, In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma, J Clin Invest, 105, 1429, 10.1172/JCI9166
Chantrain, 2006, Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency, Bone Marrow Transplant, 38, 75, 10.1038/sj.bmt.1705399
Lee, 2009, Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele, J Clin Immunol, 29, 238, 10.1007/s10875-008-9253-9
Edeer Karaca, 2012, Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-gamma receptor-1 deficiency, Immunotherapy, 4, 1121, 10.2217/imt.12.111
Prando, 2010, Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency, Am J Med Genet A, 152A, 622, 10.1002/ajmg.a.33291
Rosenzweig, 2002, 561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain, Clin Immunol, 102, 25, 10.1006/clim.2001.5135
Marazzi, 2010, Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency, Int J Infect Dis, 14, e167, 10.1016/j.ijid.2009.03.025
Cunningham, 2000, Disseminated bacille Calmette-Guerin infection in an infant with a novel deletion in the interferon-gamma receptor gene, Int J Tuberc Lung Dis, 4, 791
Dupuis, 2000, Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion, Immunol Rev, 178, 129, 10.1034/j.1600-065X.2000.17810.x
Holland, 1998, Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency, J Infect Dis, 178, 1095, 10.1086/515670
Vesterhus, 1998, Familial disseminated infection due to atypical mycobacteria with childhood onset, Clin Infect Dis, 27, 822, 10.1086/514939
Pierre-Audigier, 1997, Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency, Clin Infect Dis, 24, 982, 10.1093/clinids/24.5.982
Koscielniak, 2003, Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency, Pediatr Infect Dis J, 22, 378, 10.1097/01.inf.0000060181.71042.b5
Noordzij, 2007, Two patients with complete defects in interferon gamma receptor-dependent signaling, J Clin Immunol, 27, 490, 10.1007/s10875-007-9097-8
Tsolia, 2006, Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency, Eur J Pediatr, 165, 458, 10.1007/s00431-006-0110-7
Wang, 2014, Interferon-gamma receptor 1 deficiency in a 19-month-old child: case report and literature review, Zhonghua Er Ke Za Zhi, 52, 387
de Groot, 1995, Familial disseminated atypical mycobacterial infection in childhood, Lancet, 345, 993, 10.1016/S0140-6736(95)90744-0
Altare, 1998, Mendelian susceptibility to mycobacterial infection in man, Curr Opin Immunol, 10, 413, 10.1016/S0952-7915(98)80114-3
Feinberg, 2004, Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes, Eur J Immunol, 34, 3276, 10.1002/eji.200425221
Costa-Pereira, 2005, Signaling through a mutant IFN-gamma receptor, J Immunol, 175, 5958, 10.4049/jimmunol.175.9.5958
Fieschi, 2001, High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency, Pediatrics, 107, E48, 10.1542/peds.107.4.e48
Emile, 1997, Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection, J Pathol, 181, 25, 10.1002/(SICI)1096-9896(199701)181:1<25::AID-PATH747>3.0.CO;2-Z
Ward, 2007, Adjunctive treatment of disseminated Mycobacterium avium complex infection with interferon alpha-2b in a patient with complete interferon-gamma receptor R1 deficiency, Eur J Pediatr, 166, 981, 10.1007/s00431-006-0339-1
Bax, 2013, Interferon alpha treatment of patients with impaired interferon gamma signaling, J Clin Immunol, 33, 991, 10.1007/s10875-013-9882-5
van de Wetering, 2011, IFN-alpha cannot substitute lack of IFN-gamma responsiveness in cells of an IFN-gammaR1 deficient patient, Clin Immunol, 138, 282, 10.1016/j.clim.2010.12.005
Nguyen, 2000, Interferon alpha/beta-mediated inhibition and promotion of interferon gamma: STAT1 resolves a paradox, Nat Immunol, 1, 70, 10.1038/76940
Bouchonnet, 2002, Alpha/beta interferon impairs the ability of human macrophages to control growth of Mycobacterium bovis BCG, Infect Immun, 70, 3020, 10.1128/IAI.70.6.3020-3025.2002
Roesler, 2004, Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey, J Pediatr, 145, 806, 10.1016/j.jpeds.2004.08.021
Horwitz, 2003, Persistent Mycobacterium avium infection following nonmyeloablative allogeneic peripheral blood stem cell transplantation for interferon-gamma receptor-1 deficiency, Blood, 102, 2692, 10.1182/blood-2003-04-1268
Reuter, 2002, Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation, Blood, 100, 4234, 10.1182/blood-2002-02-0433
Rottman, 2008, IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts, PLoS Med, 5, e26, 10.1371/journal.pmed.0050026
Remiszewski, 2006, Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency, Respiration, 73, 375, 10.1159/000088682
Allende, 2001, A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency, Clin Diagn Lab Immunol, 8, 133, 10.1128/CDLI.8.1.133-137.2001
Holland, 2000, Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infection, Microbes Infect, 2, 1579, 10.1016/S1286-4579(00)01314-9
Kong, 2010, A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon, Hum Mol Genet, 19, 434, 10.1093/hmg/ddp507
Moilanen, 2009, Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency, Pediatr Infect Dis J, 28, 658, 10.1097/INF.0b013e318195092e
Jouanguy, 1999, A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection, Nat Genet, 21, 370, 10.1038/7701
Okada, 2007, The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction, J Med Genet, 44, 485, 10.1136/jmg.2007.049635
Arend, 2001, Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor, Neth J Med, 59, 140, 10.1016/S0300-2977(01)00152-8
Raszka, 1994, Multifocal M. intracellulare osteomyelitis in an immunocompetent child, Clin Pediatr (Phila), 33, 611, 10.1177/000992289403301007
Waibel, 2002, Fever and leg pain in a 42-month-old, Ann Allergy Asthma Immunol, 89, 239, 10.1016/S1081-1206(10)61949-7
Villella, 2001, Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation, Pediatrics, 107, E47, 10.1542/peds.107.4.e47
Sasaki, 2002, Genetic basis of patients with bacille Calmette-Guerin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type, J Infect Dis, 185, 706, 10.1086/339011
Hoshina, 2011, Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan, J Clin Immunol, 31, 309, 10.1007/s10875-010-9498-y
Obinata, 2013, Two cases of partial dominant interferon-gamma receptor 1 deficiency that presented with different clinical courses of bacille Calmette-Guerin multiple osteomyelitis, J Infect Chemother, 19, 757, 10.1007/s10156-012-0493-5
Rose, 2014, A novel mutation in IFN-gamma receptor 1 presenting as multisystem Mycobacterium intracellulare infection, J Allergy Clin Immunol, 133, 591, 10.1016/j.jaci.2013.07.054
Storgaard, 2006, Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections, Scand J Immunol, 64, 137, 10.1111/j.1365-3083.2006.01775.x
Glosli, 2008, Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency, Clin Infect Dis, 46, e23, 10.1086/525855
Pac, 2012, Disseminated Mycobacterium tuberculosis complex infection in a girl with partial dominant IFN-g receptor 1 deficiency, Centr Eur J Immunol, 37, 378, 10.5114/ceji.2012.32667
Han, 2004, Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-gamma receptor mutation, Clin Infect Dis, 39, 868, 10.1086/423804
Takeda, 2014, Augmentation of antitubercular therapy with IFNgamma in a patient with dominant partial IFNgamma receptor 1 deficiency, Clin Immunol, 151, 25, 10.1016/j.clim.2014.01.004
Auld, 2011, Blurring the lines in interferon {gamma} receptor deficiency: an infant with near-fatal airway disease, Pediatrics, 127, e1352, 10.1542/peds.2010-0387
Janssen, 2002, Divergent role for TNF-alpha in IFN-gamma-induced killing of Toxoplasma gondii and Salmonella typhimurium contributes to selective susceptibility of patients with partial IFN-gamma receptor 1 deficiency, J Immunol, 169, 3900, 10.4049/jimmunol.169.7.3900
Muszlak, 2007, [Multifocal infection due to Mycobacterium intracellulare: first case of interferon gamma receptor partial dominant deficiency in tropical French territory], Arch Pediatr, 14, 270, 10.1016/j.arcped.2006.11.023
Edgar, 2001, Interferon-gamma receptor deficiency mimicking Langerhans’ cell histiocytosis, J Pediatr, 139, 600, 10.1067/mpd.2001.117068
Holland, 2001, Immunotherapy of mycobacterial infections, Semin Respir Infect, 16, 47, 10.1053/srin.2001.22728
Vogt, 2008, Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation, J Exp Med, 205, 1729, 10.1084/jem.20071987
Vogt, 2005, Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations, Nat Genet, 37, 692, 10.1038/ng1581
Kong, 2013, Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease, Hum Mol Genet, 22, 769, 10.1093/hmg/dds484
Rosenzweig, 2004, A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states, J Immunol, 173, 4000, 10.4049/jimmunol.173.6.4000
Furthner, 2007, Neu beschriebener homozygoter Interferon-g-Rezeptor-2-Defkt, Chronisch multifokale Osteomyelitis durch Mycobacterium avium, Monatsschr Kinderheilkd, 155, S58, 10.1007/s00112-005-1270-7
Martinez-Barricarte, 2014, Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-gR2 deficiency, J Clin Immunol, 10.1007/s10875-014-0085-5
Vogt, 2007, Gain-of-glycosylation mutations, Curr Opin Genet Dev, 17, 245, 10.1016/j.gde.2007.04.008
Rosenzweig, 2004, Characterization of a dipeptide motif regulating IFN-gamma receptor 2 plasma membrane accumulation and IFN-gamma responsiveness, J Immunol, 173, 3991, 10.4049/jimmunol.173.6.3991
Kilic, 2012, Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gammaR2 deficiency, J Infect, 65, 568, 10.1016/j.jinf.2012.08.008
Moncada-Velez, 2013, Partial IFN-gammaR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation, Blood, 122, 2390, 10.1182/blood-2013-01-480814
Doffinger, 2000, Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection, J Infect Dis, 181, 379, 10.1086/315197
de Paus, 2011, Effect of amino acid substitutions in the human IFN-gammaR2 on IFN-gamma responsiveness, Genes Immun, 12, 136, 10.1038/gene.2010.74
Kong, 2013, A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease, PLOS ONE, 8, e58286, 10.1371/journal.pone.0058286
Chapgier, 2006, Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo, J Immunol, 176, 5078, 10.4049/jimmunol.176.8.5078
Dupuis, 2003, Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency, Nat Genet, 33, 388, 10.1038/ng1097
Vairo, 2011, Severe impairment of IFN-gamma and IFN-alpha responses in cells of a patient with a novel STAT1 splicing mutation, Blood, 118, 1806, 10.1182/blood-2011-01-330571
Chapgier, 2009, A partial form of recessive STAT1 deficiency in humans, J Clin Invest, 119, 1502, 10.1172/JCI37083
Averbuch, 2011, The clinical spectrum of patients with deficiency of signal transducer and activator of transcription-1, Pediatr Infect Dis J, 30, 352, 10.1097/INF.0b013e3181fdff4a
Kong, 2010, A novel form of human STAT1 deficiency impairing early but not late responses to interferons, Blood, 116, 5895, 10.1182/blood-2010-04-280586
Kristensen, 2011, Novel STAT1 alleles in a patient with impaired resistance to mycobacteria, J Clin Immunol, 31, 265, 10.1007/s10875-010-9480-8
Shamriz, 2013, Mycobacterium szulgai chronic multifocal osteomyelitis in an adolescent with inherited STAT1 deficiency, Pediatr Infect Dis J, 32, 1345, 10.1097/01.inf.0000437067.43859.4c
Dupuis, 2001, Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation, Science, 293, 300, 10.1126/science.1061154
Liu, 2011, Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis, J Exp Med, 208, 1635, 10.1084/jem.20110958
Casanova, 2012, Inborn errors of human JAKs and STATs, Immunity, 36, 515, 10.1016/j.immuni.2012.03.016
van de Veerdonk, 2011, STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis, N Engl J Med, 365, 54, 10.1056/NEJMoa1100102
Sampaio, 2013, Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis, J Allergy Clin Immunol, 131, 1624, 10.1016/j.jaci.2013.01.052
Kumar, 2014, Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis, J Allergy Clin Immunol, 134, 236, 10.1016/j.jaci.2014.02.037
Lee, 2014, Penicillium marneffei infection and impaired IFN-gamma immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations, J Allergy Clin Immunol, 133, 894, 10.1016/j.jaci.2013.08.051
Hori, 2012, Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism, J Clin Immunol, 32, 1213, 10.1007/s10875-012-9744-6
Toth, 2012, Herpes in STAT1 gain-of-function mutation [corrected], Lancet, 379, 2500, 10.1016/S0140-6736(12)60365-1
Uzel, 2013, Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome, J Allergy Clin Immunol, 131, 1611, 10.1016/j.jaci.2012.11.054
Takezaki, 2012, Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain, J Immunol, 189, 1521, 10.4049/jimmunol.1200926
Aldave, 2013, A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation, J Clin Immunol, 33, 1273, 10.1007/s10875-013-9947-5
Wang, 2013, STAT3 negatively regulates type I IFN-mediated antiviral response, J Immunol, 187, 2578, 10.4049/jimmunol.1004128
Soltesz, 2013, New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe, J Med Genet, 50, 567, 10.1136/jmedgenet-2013-101570
Mizoguchi, 2014, Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis, J Leukoc Biol, 95, 667, 10.1189/jlb.0513250
Frans, 2014, Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding, J Allergy Clin Immunol, 10.1016/j.jaci.2014.05.044
Wildbaum, 2013, Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion, J Allergy Clin Immunol, 132, 761, 10.1016/j.jaci.2013.04.018
Smeekens, 2011, STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis, PLoS ONE, 6, e29248, 10.1371/journal.pone.0029248
Romberg, 2013, Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival, J Allergy Clin Immunol, 131, 1691, 10.1016/j.jaci.2013.01.004
Mekki, 2014, IL-17T cells’ defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation, J Invest Dermatol, 134, 1155, 10.1038/jid.2013.480
Al Rushood, 2013, Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3, J Pediatr, 163, 277, 10.1016/j.jpeds.2013.02.040
Sharfe, 2014, Fatal combined immunodeficiency associated with heterozygous mutation in STAT1, J Allergy Clin Immunol, 133, 807, 10.1016/j.jaci.2013.09.032
Hirata, 2013, Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis, Haematologica, 98, 1641, 10.3324/haematol.2013.083741
Tsumura, 2012, Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease, Hum Mutat, 33, 1377, 10.1002/humu.22113
Sampaio, 2012, A novel STAT1 mutation associated with disseminated mycobacterial disease, J Clin Immunol, 32, 681, 10.1007/s10875-012-9659-2
Horvath, 1996, The antiviral state induced by alpha interferon and gamma interferon requires transcriptionally active Stat1 protein, J Virol, 70, 647, 10.1128/JVI.70.1.647-650.1996
de Jong, 1998, Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients, Science, 280, 1435, 10.1126/science.280.5368.1435
Altare, 1998, Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency, Science, 280, 1432, 10.1126/science.280.5368.1432
Jirapongsananuruk, 2012, Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene, Asian Pac J Allergy Immunol, 30, 79
van de Vosse, 2013, IL-12Rbeta1 deficiency: mutation update and description of the IL12RB1 variation database, Hum Mutat, 34, 1329, 10.1002/humu.22380
Pedraza-Sanchez, 2010, Bacille Calmette-Guerin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families, Int J Infect Dis, 14, e256, 10.1016/j.ijid.2009.11.005
Schepers, 2013, IL-12Rbeta1 deficiency and disseminated Mycobacterium tilburgii disease, J Clin Immunol, 33, 1285, 10.1007/s10875-013-9941-y
Fieschi, 2003, Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications, J Exp Med, 197, 527, 10.1084/jem.20021769
Fieschi, 2004, A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors, Blood, 104, 2095, 10.1182/blood-2004-02-0584
van de Vosse, 2010, Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta1 deficiency, Infection, 38, 128, 10.1007/s15010-009-9222-0
Yancoski, 2009, A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian susceptibility to mycobacterial diseases in European descendants, Infect Genet Evol, 9, 574, 10.1016/j.meegid.2009.02.010
Schejbel, 2011, Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable Mycobacterium, Scand J Immunol, 74, 548, 10.1111/j.1365-3083.2011.02603.x
Haerynck, 2008, Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain, J Pediatr, 153, 721, 10.1016/j.jpeds.2008.05.050
Casanova, 1996, Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study, Pediatrics, 98, 774, 10.1542/peds.98.4.774
Aksu, 2001, Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency, Pediatr Infect Dis J, 20, 551, 10.1097/00006454-200105000-00021
Filiz, 2014, Cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis in a child with interleukin-12 receptor beta-1 deficiency, Pediatr Dermatol, 31, 236, 10.1111/j.1525-1470.2012.01856.x
Staretz-Haham, 2003, Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection, Clin Infect Dis, 37, 137, 10.1086/375229
Sakai, 2001, Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection, Blood, 97, 2688, 10.1182/blood.V97.9.2688
Grant, 2011, Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease, J Med Genet, 48, 567, 10.1136/jmg.2011.089128
Gimenez-Sanchez, 2014, Different penetrance of disseminated infections caused by nontuberculous Mycobacteria in Mendelian susceptibility to mycobacterial disease associated with a novel mutation, Pediatr Infect Dis J, 33, 328, 10.1097/INF.0000000000000099
Sanal, 2006, Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections, J Clin Immunol, 26, 1, 10.1007/s10875-006-7830-3
Senanayake, 2014, Disseminated BCG in an infant with interleukin-12 receptor B1 (IL12RB1) deficiency, Paediatr Int Child Health
Lichtenauer-Kaligis, 2003, Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency, Eur J Immunol, 33, 59, 10.1002/immu.200390008
Gruenberg, 2010, Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents, J Allergy Clin Immunol, 125, 264, 10.1016/j.jaci.2009.07.061
Ehlayel, 2008, Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia, J Allergy Clin Immunol, 122, 1217, 10.1016/j.jaci.2008.07.005
Schmitt, 2013, IL-12 receptor beta1 deficiency alters in vivo T follicular helper cell response in humans, Blood, 121, 3375, 10.1182/blood-2012-08-448902
Ma, 2012, Functional STAT3 deficiency compromises the generation of human T follicular helper cells, Blood, 119, 3997, 10.1182/blood-2011-11-392985
Tassone, 2013, Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of beta1 subunit of IL-12 receptor gene, J Allergy Clin Immunol, 131, 607, 10.1016/j.jaci.2012.05.041
Darleguy, 2013, Mendelian susceptibility to mycobacterial disease: a case report of disseminated infection due to Mycobacterium avium, Arch Pediatr, 20, 758, 10.1016/j.arcped.2013.04.005
Elloumi-Zghal, 2002, Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guerin infection, J Infect Dis, 185, 1468, 10.1086/340510
Diniz, 2014, Lymphadenitis caused by infection with an isoniazid- and rifampin-resistant strain of Mycobacterium bovis BCG in an infant with IFN-gamma/IL-12 pathway defect, J Bras Pneumol, 40, 188, 10.1590/S1806-37132014000200014
Tuerlinckx, 1997, Disseminated Mycobacterium avium infection in a child with decreased tumour necrosis factor production, Eur J Pediatr, 156, 204, 10.1007/s004310050583
Asilsoy, 2009, Interleukin-12/-23 receptor beta 1 deficiency in an infant with draining BCG lymphadenitis, Pediatr Int, 51, 310, 10.1111/j.1442-200X.2009.02818.x
Kutukculer, 2006, Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency, J Pediatr, 148, 407, 10.1016/j.jpeds.2005.10.003
Scheuerman, 2007, Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains, Isr Med Assoc J, 9, 560
Tanir, 2006, Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features, Eur J Pediatr, 165, 415, 10.1007/s00431-005-0078-8
Sanal, 2000, Isolated cutaneous response to granulocyte-monocyte colony stimulating factor in fatal idiopathic disseminated Bacillus-Calmette-Guerin infection, Eur J Pediatr, 159, 149, 10.1007/s004310050039
Rosenzweig, 2006, Thirteen years of culture-positive M. bovis-BCG infection in an IL-12Rbeta1 deficient patient: treatment and outcome, J Infect, 52, e69, 10.1016/j.jinf.2005.07.009
Guia, 2008, A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo, Blood, 111, 5008, 10.1182/blood-2007-11-122259
de Boer, 2008, Influenza virus vaccination induces interleukin-12/23 receptor beta 1 (IL-12/23R beta 1)-independent production of gamma interferon (IFN-gamma) and humoral immunity in patients with genetic deficiencies in IL-12/23R beta 1 or IFN-gamma receptor I, Clin Vaccine Immunol, 15, 1171, 10.1128/CVI.00090-08
Costa, 2006, Resistant Mycobacterium bovis disseminated infection, Pediatr Infect Dis J, 25, 190, 10.1097/01.inf.0000200103.69932.4c
Miro, 2006, T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells, J Immunol, 177, 3625, 10.4049/jimmunol.177.6.3625
Cleary, 2003, Impaired accumulation and function of memory CD4T cells in human IL-12 receptor beta 1 deficiency, J Immunol, 170, 597, 10.4049/jimmunol.170.1.597
Verhagen, 2000, Residual type 1 immunity in patients genetically deficient for interleukin 12 receptor beta1 (IL-12Rbeta1): evidence for an IL-12Rbeta1-independent pathway of IL-12 responsiveness in human T cells, J Exp Med, 192, 517, 10.1084/jem.192.4.517
Altare, 2001, Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis, J Infect Dis, 184, 231, 10.1086/321999
Shah, 2010, Interleukin 12 receptor beta1 chain deficiency in a child with disseminated tuberculosis: a case report, J Oral Maxillofac Surg, 68, 909, 10.1016/j.joms.2009.04.116
Ailal, 2014, Péricardite purulente et infiltration colique à Salmonella enteritidis compliquée d’invagination intestinale aigüe dans un cas de déficit en IL-12Rb1, Archives de Pédiatrie, 10.1016/j.arcped.2014.09.009
van de Vosse, 2005, Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency, Hum Mol Genet, 14, 3847, 10.1093/hmg/ddi409
Potjewijd, 2012, Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor beta1 deficiency, Clin Immunol, 144, 83, 10.1016/j.clim.2012.05.007
Strickler, 2014, Enfermedad por bacilo de Calmette-Guerin (BCG) y deficiencia del receptor b1 de interleuquina 12. Experiencia clinica de dos casos en una familia y un caso aislado, Rev Chil Infect, 31, 444, 10.4067/S0716-10182014000400010
Alangari, 2011, Treatment of disseminated mycobacterial infection with high-dose IFN-gamma in a patient with IL-12Rbeta1 deficiency, Clin Dev Immunol, 2011, 691956, 10.1155/2011/691956
Altare, 1998, Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection, J Clin Invest, 102, 2035, 10.1172/JCI4950
Puel, 2011, Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity, Science, 332, 65, 10.1126/science.1200439
Salzer, 2014, Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency, J Allergy Clin Immunol, 133, 1651, 10.1016/j.jaci.2014.02.034
Picard, 2004, Inherited disorders of cytokines, Curr Opin Pediatr, 16, 648, 10.1097/01.mop.0000145919.92477.5f
Mansouri, 2005, Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection, Eur J Pediatr, 164, 753, 10.1007/s00431-005-1689-9
Ben-Mustapha, 2014, A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients, Immunogenetics, 66, 67, 10.1007/s00251-013-0739-0
Pulickal, 2008, Biliary cirrhosis in a child with inherited interleukin-12 deficiency, J Trop Pediatr, 54, 269, 10.1093/tropej/fmm119
MacLennan, 2004, Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans, J Infect Dis, 190, 1755, 10.1086/425021
Happel, 2005, Divergent roles of IL-23 and IL-12 in host defense against Klebsiella pneumoniae, J Exp Med, 202, 761, 10.1084/jem.20050193
Marquis, 2009, Disseminated and rapidly fatal tuberculosis in mice bearing a defective allele at IFN regulatory factor 8, J Immunol, 182, 3008, 10.4049/jimmunol.0800680
Turcotte, 2005, A mutation in the Icsbp1 gene causes susceptibility to infection and a chronic myeloid leukemia-like syndrome in BXH-2 mice, J Exp Med, 201, 881, 10.1084/jem.20042170
Marquis, 2011, Interferon regulatory factor 8 regulates pathways for antigen presentation in myeloid cells and during tuberculosis, PLoS Genet, 7, e1002097, 10.1371/journal.pgen.1002097
Taniguchi, 2001, IRF family of transcription factors as regulators of host defense, Annu Rev Immunol, 19, 623, 10.1146/annurev.immunol.19.1.623
Tsujimura, 2003, Cutting edge: IFN consensus sequence binding protein/IFN regulatory factor 8 drives the development of type I IFN-producing plasmacytoid dendritic cells, J Immunol, 170, 1131, 10.4049/jimmunol.170.3.1131
Turcotte, 2007, Icsbp1/IRF-8 is required for innate and adaptive immune responses against intracellular pathogens, J Immunol, 179, 2467, 10.4049/jimmunol.179.4.2467
Collin, 2011, Human dendritic cell deficiency: the missing ID?, Nat Rev Immunol, 11, 575, 10.1038/nri3046
Conley, 2014, Discovery of single-gene inborn errors of immunity by next generation sequencing, Curr Opin Immunol, 30C, 17, 10.1016/j.coi.2014.05.004
Bogunovic, 2013, ISG15: leading a double life as a secreted molecule, Exp Mol Med, 45, e18, 10.1038/emm.2013.36
D’Cunha, 1996, Immunoregulatory properties of ISG15, an interferon-induced cytokine, Proc Natl Acad Sci USA, 93, 211, 10.1073/pnas.93.1.211
D’Cunha, 1996, In vitro and in vivo secretion of human ISG15, an IFN-induced immunomodulatory cytokine, J Immunol, 157, 4100, 10.4049/jimmunol.157.9.4100
Zhang, 2014, Intracellular human ISG15 prevents IFN-a/b over-amplification and auto-inflammation, Nature
Crow, 2014, STING-associated vasculopathy with onset in infancy – a new interferonopathy, N Engl J Med, 371, 568, 10.1056/NEJMe1407246
Crow, 2011, Type I interferonopathies: a novel set of inborn errors of immunity, Ann N Y Acad Sci, 1238, 91, 10.1111/j.1749-6632.2011.06220.x
Bustamante, 2011, Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases, Ann N Y Acad Sci, 1246, 92, 10.1111/j.1749-6632.2011.06273.x
Doffinger, 2001, X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling, Nat Genet, 27, 277, 10.1038/85837
Smahi, 2002, The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes, Hum Mol Genet, 11, 2371, 10.1093/hmg/11.20.2371
Smahi, 2000, Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium, Nature, 405, 466, 10.1038/35013114
Roos, 2010, Hematologically important mutations: X-linked chronic granulomatous disease (third update), Blood Cells Mol Dis, 45, 246, 10.1016/j.bcmd.2010.07.012
Holland, 2013, Chronic granulomatous disease, Hematol Oncol Clin North Am, 27, 89, 10.1016/j.hoc.2012.11.002
Hubeau, 2011, New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein, Blood, 118, 926, 10.1182/blood-2010-10-315234
Puel, 2006, The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation, Am J Hum Genet, 78, 691, 10.1086/501532
Jain, 2001, Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia, Nat Immunol, 2, 223, 10.1038/85277
Zonana, 2000, A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO), Am J Hum Genet, 67, 1555, 10.1086/316914
Orange, 2004, Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia, J Allergy Clin Immunol, 114, 650, 10.1016/j.jaci.2004.06.052
Grubisha, 2010, DARPin-assisted crystallography of the CC2-LZ domain of NEMO reveals a coupling between dimerization and ubiquitin binding, J Mol Biol, 395, 89, 10.1016/j.jmb.2009.10.018
Shu, 1995, Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction, Eur J Immunol, 25, 1125, 10.1002/eji.1830250442
Cella, 1996, Ligation of CD40 on dendritic cells triggers production of high levels of interleukin-12 and enhances T cell stimulatory capacity: T–T help via APC activation, J Exp Med, 184, 747, 10.1084/jem.184.2.747
Kelsall, 1996, Interleukin-12 production by dendritic cells. The role of CD40-CD40L interactions in Th1 T-cell responses, Ann N Y Acad Sci, 795, 116, 10.1111/j.1749-6632.1996.tb52660.x
Stuber, 1996, Blocking the CD40L-CD40 interaction in vivo specifically prevents the priming of T helper 1 cells through the inhibition of interleukin 12 secretion, J Exp Med, 183, 693, 10.1084/jem.183.2.693
Frucht, 1996, Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation, J Immunol, 157, 411, 10.4049/jimmunol.157.1.411
Holland, 1994, Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon gamma. A preliminary report, N Engl J Med, 330, 1348, 10.1056/NEJM199405123301904
Frucht, 1999, IL-12-Independent costimulation pathways for interferon-gamma production in familial disseminated Mycobacterium avium complex infection, Clin Immunol, 91, 234, 10.1006/clim.1999.4688
Haverkamp, 2014, Correlating interleukin-12 stimulated interferon-gamma production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-kappaB essential modulator (NEMO), J Clin Immunol, 34, 436
Trinchieri, 2003, The IL-12 family of heterodimeric cytokines: new players in the regulation of T cell responses, Immunity, 19, 641, 10.1016/S1074-7613(03)00296-6
Hunter, 2005, New IL-12-family members: IL-23 and IL-27, cytokines with divergent functions, Nat Rev Immunol, 5, 521, 10.1038/nri1648
Nedorost, 1991, Rosacea-like lesions due to familial Mycobacterium avium-intracellulare infection, Int J Dermatol, 30, 491, 10.1111/j.1365-4362.1991.tb04869.x
Dinauer, 1992, Chronic granulomatous disease, Annu Rev Med, 43, 117, 10.1146/annurev.me.43.020192.001001
Segal, 2000, Genetic, biochemical, and clinical features of chronic granulomatous disease. (Baltimore), 79, 170
Winkelstein, 2000, Chronic granulomatous disease. Report on a national registry of 368 patients, Baltimore, 79, 155, 10.1097/00005792-200005000-00003
Bustamante, 2007, BCG-osis and tuberculosis in a child with chronic granulomatous disease, J Allergy Clin Immunol, 120, 32, 10.1016/j.jaci.2007.04.034
Baba, 2014, Chronic granulomatous disease in morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds, J Clin Immunol, 34, 452
Lee, 2008, Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis, Pediatr Infect Dis J, 27, 224, 10.1097/INF.0b013e31815b494c
Koker, 2013, Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients, J Allergy Clin Immunol, 132, 1156, 10.1016/j.jaci.2013.05.039
Fattahi, 2011, Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease, J Clin Immunol, 31, 792, 10.1007/s10875-011-9567-x
Agudelo-Florez, 2006, Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics, Pediatr Blood Cancer, 46, 243, 10.1002/pbc.20455
van den Berg, 2009, Chronic granulomatous disease: the European experience, PLoS ONE, 4, e5234, 10.1371/journal.pone.0005234
Deffert, 2014, Phagocyte NADPH oxidase, chronic granulomatous disease and mycobacterial infections, Cell Microbiol, 16, 1168, 10.1111/cmi.12322
Martire, 2008, Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study, Clin Immunol, 126, 155, 10.1016/j.clim.2007.09.008
El Kares, 2006, Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia, J Hum Genet, 51, 887, 10.1007/s10038-006-0039-8
Lugo Reyes, 2011, Hodgkin lymphoma in 2 children with chronic granulomatous disease, J Allergy Clin Immunol, 127, 543, 10.1016/j.jaci.2010.10.049
Dogru, 2010, Tuberculosis in children with congenital immunodeficiency syndromes, Tuberk Toraks, 58, 59
Wolach, 2008, Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients, Clin Immunol, 129, 103, 10.1016/j.clim.2008.06.012
Bustamante, 2007, A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease, J Med Genet, 44, e65, 10.1136/jmg.2006.043406
Conti, 2014, Phagocyte NADPH oxidase activity in patients with inherited IFN-gR1 or IFN-gR2 deficiency, J Allergy Clin Immunol, 10.1016/j.jaci.2014.11.004
Hsieh, 1995, T cell genetic background determines default T helper phenotype development in vitro, J Exp Med, 181, 713, 10.1084/jem.181.2.713
Doffinger, 1999, Inheritable defects in interleukin-12- and interferon-gamma-mediated immunity and the TH1/TH2 paradigm in man, Allergy, 54, 409, 10.1034/j.1398-9995.1999.00088.x
Wood, 2005, Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children, Eur J Pediatr, 164, 741, 10.1007/s00431-005-1745-5
Doffinger, 2004, Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity, Clin Infect Dis, 38, e10, 10.1086/380453
Puel, 2013, Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I, J Exp Med, 207, 291, 10.1084/jem.20091983
Browne, 2012, Adult-onset immunodeficiency in Thailand and Taiwan, N Engl J Med, 367, 725, 10.1056/NEJMoa1111160
Chi, 2013, Anti-IFN-gamma autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection, Blood, 121, 1357, 10.1182/blood-2012-08-452482
Casanova, 2007, Human genetics of infectious diseases: a unified theory, Embo J, 26, 915, 10.1038/sj.emboj.7601558
Casanova, 2007, Primary immunodeficiencies: a field in its infancy, Science, 317, 617, 10.1126/science.1142963
Gaschignard, 2014, Invasive pneumococcal disease in children can reveal a primary immunodeficiency, Clin Infect Dis, 59, 244, 10.1093/cid/ciu274
Picard, 2006, Mendelian traits that confer predisposition or resistance to specific infections in humans, Curr Opin Immunol, 18, 383, 10.1016/j.coi.2006.05.005
Orth, 2008, Host defenses against human papillomaviruses: lessons from epidermodysplasia verruciformis, Curr Top Microbiol Immunol, 321, 59
Zhang, 2013, Mendelian predisposition to herpes simplex encephalitis, Handb Clin Neurol, 112, 1091, 10.1016/B978-0-444-52910-7.00027-1
Puel, 2012, Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis, Curr Opin Allergy Clin Immunol, 12, 616, 10.1097/ACI.0b013e328358cc0b
Byun, 2010, Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma, J Exp Med, 207, 2307, 10.1084/jem.20101597
Byun, 2013, Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood, J Exp Med, 210, 1743, 10.1084/jem.20130592
Boisson, 2013, An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis, Immunity, 39, 676, 10.1016/j.immuni.2013.09.002
Bolze, 2013, Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia, Science, 340, 976, 10.1126/science.1234864
Crequer, 2012, Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections, J Clin Invest, 122, 3239, 10.1172/JCI62949