Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia

Springer Science and Business Media LLC - Tập 37 Số 8 - Trang 801-810 - 2017
Glynis Frans1, Jutte van der Werff ten Bosch2, Leen Moens1, Rik Gijsbers3, Majid Changi‐Ashtiani4, Hassan Rokni‐Zadeh5, Mohammad Shahrooei6, Greet Wuyts1, Isabelle Meyts7, Xavier Bossuyt1
1Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium
2Department of Pediatric Hematology, Oncology and Immunology, University Hospital Brussels, Brussels, Belgium.
3Department of Pharmaceutical and Pharmacological Sciences, Laboratory for Viral Vector Technology & Gene Therapy, KU Leuven, Leuven, Belgium
4School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran
5Department of Medical Biotechnology and Nanotechnology, Zanjan University of Medical Sciences, Zanjan, Iran
6Department of Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven, Leuven, Belgium.
7Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium

Tóm tắt

Từ khóa


Tài liệu tham khảo

Karin M, Ben-Neriah Y. Phosphorylation meets ubiquitination: the control of NF-κB activity. Annu Rev Immunol. 2000;18:621–63.

Hayden MS, Ghosh S. Shared principles in NF-κB signaling. Cell. 2008;132:344–62.

Scheidereit C. IκB kinase complexes: gateways to NF-κB activation and transcription. Oncogene. 2006;25:6685–705.

Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum Mol Genet. 2004;13:1763–73.

Uzel G. The range of defects associated with nuclear factor kappaB essential modulator. Curr Opin Allergy Clin Immunol. 2005;5:513–8.

Courtois G, Gilmore TD. Mutations in the NF-κB signaling pathway: implications for human disease. Oncogene. 2006;25:6831–43.

Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122:1169–77.

Fusco F, Pescatore A, Conte MI, Mirabelli P, Paciolla M, Esposito E, et al. EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation. Int Rev Immunol. 2015;34:445–59.

Boisson B, Puel A, Picard C, Casanova JL. Human IκBα gain of function: a severe and syndromic immunodeficiency. J Clin Immunol. 2017;37:397–412.

Frans G, Meyts I, Picard C, Puel A, Zhang SY, Moens L, et al. Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses. Crit Rev Clin Lab Sci. 2014;51:112–23.

Rosenzweig SD, Holland SM. Defects in the interferon-gamma and interleukin-12 pathways. Immunol Rev. 2005;203:38–47.

Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med. 2006;203:1745–59.

Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, et al. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitation of translation. Am J Hum Genet. 2006;78:691–701.

Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, et al. Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J Allergy Clin Immunol. 2004;114:1456–62.

Ku CL, Dupuis-Girod S, Dittrich AM, Bustamante J, Santos OF, Schulze I, et al. NEMO mutations in 2 unrelated boys with severe infections and conical teeth. Pediatrics. 2005;115:615–9.

Salt BH, Niemela JE, Pandey R, Hanson EP, Deering RP, Quinones R, et al. IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function. J Allergy Clin Immunol. 2008;121:976–82.

Orange JS, Levy O, Brodeur SR, Krzewski K, Roy RM, Niemela JE, et al. Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol. 2004;114:650–6.

Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol. 2004;113:725–33.

Dai YS, Liang MG, Gellis SE, Bonilla FA, Schneider LC, Geha RS, et al. Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia. J Am Acad Dermatol. 2004;51:718–22.

Tuerlinckx D, Vermeulen F, Pékus V, de Bilderling G, Glupczynski Y, Collet S, et al. Optimal assessment of the ability of children with recurrent respiratory tract infections to produce anti-polysaccharide antibodies. Clin Exp Immunol. 2007;149:295–302.

Shirkani A, Shahrooei M, Azizi G, Rokni-Zadeh H, Abolhassani H, Farrokhi S, et al. Novel mutation of ZAP-70-related combined immunodeficiency: first case from the National Iranian Registry and Review of the Literature. Immunol Investig. 2017;46:70–9.

Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754–60.

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment/map (SAM) format and SAMtools. Bioinformatics. 2009;25:2078–9.

Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, et al. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. 2002;11:2371–5.

Ibrahimi A, Vande Velde G, Reumers V, Toelen J, Thiry I, Vandeputte C, et al. Highly efficient multicistronic lentiviral vectors with peptide 2A sequences. Hum Gene Ther. 2009;20:845–60.

Devora GA, Sun L, Chen Z, van Oers NS, Hanson EP, Orange JS, et al. A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema. J Clin Immunol. 2010;30:881–5.

Keller MD, Petersen M, Ong P, Church J, Risma K, Burham J, et al. Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations. Front Immunol. 2011;2:61.

Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009;41:535–43.

Rameix-Welti MA, Régnier CH, Bienaimé F, Blouin J, Schifferli J, Fridman WH, et al. Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited. Eur J Immunol. 2007;37:1377–85.

Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet. 2011;43:79–84.

Exome Aggregation Consortium (ExAC), Cambridge, MA, USA. Website: https://ExAC.broadinstitute.org . Accessed on: 5 Aug 2016.

Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37:829–34.

Freiberger T, Ravčuková B, Grodecká L, Pikulová Z, Stikarovská D, Pešák S, et al. Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations. Hum Immunol. 2012;73:1147–54.

Cui CY, Schlessinger D. EDA signaling and skin appendage development. Cell Cycle. 2006;5:2477–83.

Marienfeld RB, Palkowitsch L, Ghosh S. Dimerization of the I kappa B kinase-binding domain of NEMO is required for tumor necrosis factor alpha-induced NF-kappa B activity. Mol Cell Biol. 2006;26:9209–19.

Rushe M, Silvian L, Bixler S, Chen LL, Cheung A, Bowes S, et al. Structure of a NEMO/IKK-associating domain reveals architecture of the interaction site. Structure. 2008;16:798–808.

Gautheron J, Pescatore A, Fusco F, Esposito E, Yamaoka S, Agou F, et al. Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology. Hum Mol Genet. 2010;19:3138–49.

Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 2016;53:575–90.