Combined immunodeficiency associated with homozygous MALT1 mutations

Journal of Allergy and Clinical Immunology

Volumn 133, Issue 5, 2014, Pages

  McKinnon, Margaret L ^a   Rozmus, Jacob ^a   Fung, Shan Yu ^a   Hirschfeld, Aaron F ^a   Del Bel, Kate L ^a   Thomas, Leah ^a   Marr, Nico ^a   Martin, Spencer D ^b   Marwaha, Ashish K ^a   Priatel, John J ^a   Tan, Rusung ^a   Senger, Christof ^a   Tsang, Angela ^a   Prendiville, Julie ^a   Junker, Anne K ^a   Seear, Michael ^a   Schultz, Kirk R ^a   Sly, Laura M ^a   Holt, Robert A ^b   Patel, Millan S ^a   Friedman, Jan M ^a   Turvey, Stuart E ^a   more..

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BRITISH COLUMBIA CANCER AGENCY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 2 RECEPTOR ALPHA; MALT1 PROTEIN; PROTEIN; PROTEIN BCL 10; TRANSCRIPTION FACTOR FOXP3; UNCLASSIFIED DRUG;

ADOLESCENT; BONE DENSITY; CASE REPORT; CD3+ T LYMPHOCYTE; CHICKENPOX; COMBINED IMMUNODEFICIENCY; DERMATITIS; ESOPHAGUS STENOSIS; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; LETTER; LYMPHOCYTIC INFILTRATION; PRIORITY JOURNAL; REGULATORY T LYMPHOCYTE; STAPHYLOCOCCAL SKIN INFECTION; EXOME; FAMILY HISTORY; GENE; HOMOZYGOSITY; HUMORAL IMMUNITY; LYMPHOCYTE ACTIVATION; MUCOSA ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1; NUCLEOTIDE SEQUENCE; SEQUENCE ALIGNMENT;

ADOLESCENT; CASPASES; FEMALE; HOMOZYGOTE; HUMANS; MUTATION; NEOPLASM PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84899620444     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.10.045     Document Type: Article

References (17)

1. H. Hara, T. Wada, C. Bakal, I. Kozieradzki, S. Suzuki, and N. Suzuki et al. The MAGUK family protein CARD11 is essential for lymphocyte activation Immunity 18 2003 763 775
2. L. Xue, S.W. Morris, C. Orihuela, E. Tuomanen, X. Cui, and R. Wen et al. Defective development and function of Bcl10-deficient follicular, marginal zone and B1 B cells Nat Immunol 4 2003 857 865
3. J. Ruland, G.S. Duncan, A. Wakeham, and T.W. Mak Differential requirement for Malt1 in T and B cell antigen receptor signaling Immunity 19 2003 749 758
4. A.A. Ruefli-Brasse, D.M. French, and V.M. Dixit Regulation of NF-kappaB-dependent lymphocyte activation and development by paracaspase Science 302 2003 1581 1584
5. J. Greil, T. Rausch, T. Giese, O.R. Bandapalli, V. Daniel, and I. Bekeredjian-Ding et al. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency J Allergy Clin Immunol 131 2013 1376 1383.e3
6. P. Stepensky, B. Keller, M. Buchta, A.K. Kienzler, O. Elpeleg, and R. Somech et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects J Allergy Clin Immunol 131 2013 477 485.e1
7. H.H. Jabara, T. Ohsumi, J. Chou, M.J. Massaad, H. Benson, and A. Megarbane et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency J Allergy Clin Immunol 132 2013 151 158
8. M.W. Tusche, L.A. Ward, F. Vu, D. McCarthy, M. Quintela-Fandino, and J. Ruland et al. Differential requirement of MALT1 for BAFF-induced outcomes in B cell subsets J Exp Med 206 2009 2671 2683
9. K. Warnatz, U. Salzer, M. Rizzi, B. Fischer, S. Gutenberger, and J. Bohm et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans Proc Natl Acad Sci U S A 106 2009 13945 13950
10. H. Li, and R. Durbin Fast and accurate long-read alignment with Burrows-Wheeler transform Bioinformatics 26 2010 589 595
11. H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, and N. Homer et al. The Sequence Alignment/Map format and SAMtools Bioinformatics 25 2009 2078 2079
12. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res 38 2010 e164
13. P. Kumar, S. Henikoff, and P.C. Ng Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat Protoc 4 2009 1073 1081
14. G.R. Abecasis, D. Altshuler, A. Auton, L.D. Brooks, R.M. Durbin, and R.A. Gibbs et al. A map of human genome variation from population-scale sequencing Nature 467 2010 1061 1073
15. J.M. Schwarz, C. Rodelsperger, M. Schuelke, and D. Seelow MutationTaster evaluates disease-causing potential of sequence alterations Nat Methods 7 2010 575 576
16. L.F. Schimke, J. Sawalle-Belohradsky, J. Roesler, A. Wollenberg, A. Rack, and M. Borte et al. Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis J Allergy Clin Immunol 126 2010 611 617.e1
17. A.F. Hirschfeld, J.A. Bettinger, R.E. Victor, D.J. Davidson, A.J. Currie, and J.M. Ansermino et al. Prevalence of Toll-like receptor signalling defects in apparently healthy children who developed invasive pneumococcal infection Clin Immunol 122 2007 271 278