Repercussions of inborn errors of immunity on growth
Tài liệu tham khảo
Picard, 2018, International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee report on inborn errors of immunity, J Clin Immunol, 38, 96, 10.1007/s10875-017-0464-9
Bousfiha, 2018, The 2017 IUIS phenotypic classification for primary immunodeficiencies, J Clin Immunol, 38, 129, 10.1007/s10875-017-0465-8
McLean, 2016, Failure to thrive, 249
Keane, 2016, Assessment of growth, 84
Ergun-Longmire, 2000, Growth and growth disorders
Mauras, 2001, Growth hormone therapy in the glucocorticosteroid-dependent child: metabolic and linear growth effects, Horm Res, 56, S13
Kyle, 2015, Growth failure and nutrition considerations in chronic childhood wasting diseases, Nutr Clin Pract, 30, 227, 10.1177/0884533614555234
Wong, 2010, The growth hormone insulin-like growth factor 1 axis in children and adolescents with inflammatory bowel disease and growth retardation, Clin Endocrinol (Oxf), 73, 220
Walters, 2009, Mechanisms of growth impairment in pediatric Crohn's disease, Nat Rev Gastroenterol Hepatol, 6, 513, 10.1038/nrgastro.2009.124
Reda, 2013, Clinical predictors of primary immunodeficiency diseases in children, Allergy Asthma Immunol Res, 5, 88, 10.4168/aair.2013.5.2.88
Subbarayan, 2011, Clinical features that identify children with primary immunodeficiency diseases, Pediatrics, 127, 810, 10.1542/peds.2010-3680
Homan, 2016, Failure to thrive: a practical guide, Am Fam Physician, 94, 295
Rezaei, 2014, Common presentations and diagnostic approaches, 3
García-de Teresa, 2017, DNA damage as a driver for growth delay: chromosome instability syndromes with intrauterine growth retardation, BioMed Res Int, 2017, 1, 10.1155/2017/8193892
Schatorje, 2016, Primary immunodeficiency associated with chromosomal aberration – an ESID survey, Orphanet J Rare Dis, 11, 110, 10.1186/s13023-016-0492-1
Ley, 2017, Defects in DNA replication hit NK cells and neutrophils, J Clin Invest, 127, 1616, 10.1172/JCI93835
Gineau, 2012, Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency, J Clin Invest, 122, 821, 10.1172/JCI61014
Cottineau, 2017, Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency, J Clin Invest, 127, 1991, 10.1172/JCI90727
Patiroglu, 2014, An association of hypochondroplasia and immune deficiency, J Pediatr Endocrinol Metab, 27, 783, 10.1515/jpem-2013-0468
Kuijpers, 2003, Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene, J Med Genet, 40, 761, 10.1136/jmg.40.10.761
Kwan, 2012, Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature, Am J Med Genet A, 158A, 2911, 10.1002/ajmg.a.35604
Whitmore, 2016, Adenosine deaminase deficiency – more than just an immunodeficiency, Front Immunol, 7, 314, 10.3389/fimmu.2016.00314
Gharib, 2016, Skeletal and joint manifestations of primary immunodeficiency diseases, SOJ Immunol, 4, 1, 10.15226/2372-0948/4/1/00145
Hwa, 2016, STAT5B deficiency: impacts on human growth and immunity, Growth Horm IGF Res, 28, 16, 10.1016/j.ghir.2015.12.006
Klammt, 2018, Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation, Nat Commun, 9, 2105, 10.1038/s41467-018-04521-0
Kofoed, 2003, Growth hormone insentisitivy associated with a stat5b mutation, N Engl J Med, 349, 1139, 10.1056/NEJMoa022926
Nadeau, 2011, STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease, J Pediatr, 158, 701, 10.1016/j.jpeds.2010.12.042
Consonni, 2017, Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders, Curr Opin Pediatr, 29, 711, 10.1097/MOP.0000000000000551
Sediva, 2017, Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation: could intracellular growth hormone signalling be compromised?, Horm Res Paediatr, 88, 160, 10.1159/000456544
Gutierrez, 2018, Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations, Mol Cell Endocrinol, 473, 166, 10.1016/j.mce.2018.01.016
Olbrich, 2016, Activated PI3Kdelta syndrome type 2: two patients, a novel mutation, and review of the literature, Pediatr Allergy Immunol, 27, 640, 10.1111/pai.12585
Petrovski, 2016, Dominant splice site mutations in PIK3R1 cause hyper IgM syndrome, lymphadenopathy and short stature, J Clin Immunol, 36, 462, 10.1007/s10875-016-0281-6
Dyment, 2013, Mutations in PIK3R1 cause SHORT syndrome, Am J Hum Genet, 93, 158, 10.1016/j.ajhg.2013.06.005
Winnay, 2016, PI3-kinase mutation linked to insulin and growth factor resistance in vivo, J Clin Invest, 126, 1401, 10.1172/JCI84005
Fleisher, 1980, X-linked hypogammaglobulinemia and isolated growth hormone deficiency, N Engl J Med, 302, 1429, 10.1056/NEJM198006263022601
Stewart, 2008, X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update, Immunol Res, 40, 262, 10.1007/s12026-007-0028-9
Voss, 2014, Growth retardation and growth hormone deficiency in patients with ataxia telangiectasia, Growth Factors, 32, 123, 10.3109/08977194.2014.939805
Amin, 2015, Fifteen-minute consultation: the child with short stature, Arch Dis Child Educ Pract Ed, 100, 180, 10.1136/archdischild-2014-306488
Linglart, 2017, Bone dysplasia, Ann Endocrinol (Paris), 78, 114, 10.1016/j.ando.2017.04.011