Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

Journal of Clinical Immunology

Volumn 35, Issue 2, 2015, Pages 135-146

  Punwani, Divya ^a   Wang, Haopeng ^a   Chan, Alice Y ^a   Cowan, Morton J ^a   Mallott, Jacob ^a   Sunderam, Uma ^c   Mollenauer, Marianne ^a   Srinivasan, Rajgopal ^c   Brenner, Steven E ^b   Mulder, Arend ^d   Claas, Frans H J ^d   Weiss, Arthur ^a   Puck, Jennifer M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c TATA CONSULTANCY SERVICES   (India)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

BCL10; bone marrow transplant hematopoietic cell transplant; CARD11; CARMA1; combined immunodeficiency (CID); erythroderma; immune dysregulation

Indexed keywords

GENOMIC DNA; MUCOSA ASSOCIATED LYMPHOID TISSUE 1 PROTEIN; PROTEIN; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG; CASPASE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MALT1 PROTEIN, HUMAN; MESSENGER RNA; TUMOR PROTEIN;

ARTICLE; B LYMPHOCYTE; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL PROLIFERATION; CELL TRANSPLANTATION; CHIMERA; CYTOMEGALOVIRUS; DISEASE ASSOCIATION; DRIED BLOOD SPOT TESTING; ENTERITIS; FAMILY HISTORY; GENE MUTATION; HEMATOPOIETIC CELL; HUMAN; HUMAN TISSUE; IMMUNE DYSREGULATION; IN VITRO STUDY; INFANT; INTRACELLULAR SIGNALING; LYMPHOCYTE; LYMPHOCYTIC INFILTRATION; MALE; MEDICAL HISTORY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RASH; SEVERE COMBINED IMMUNODEFICIENCY; WESTERN BLOTTING; ADULT; ALLOTRANSPLANTATION; AMINO ACID SEQUENCE; CHILD; FEMALE; GENE EXPRESSION; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY; IMMUNOLOGY; IMMUNOPHENOTYPING; METABOLISM; MONONUCLEAR CELL; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; SIGNAL TRANSDUCTION; SKIN; TRANSFORMED CELL LINE; VIROLOGY;

ADULT; AMINO ACID SEQUENCE; B-LYMPHOCYTES; BASE SEQUENCE; CASPASES; CELL LINE, TRANSFORMED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOPHENOTYPING; INFANT; INFANT, NEWBORN; LEUKOCYTES, MONONUCLEAR; MALE; MUTATION; NEOPLASM PROTEINS; NF-KAPPA B; RNA, MESSENGER; SEVERE COMBINED IMMUNODEFICIENCY; SIGNAL TRANSDUCTION; SKIN; TRANSPLANTATION CHIMERA; TRANSPLANTATION, HOMOLOGOUS;

EID: 84925533763     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0125-1     Document Type: Article

References (43)

1. Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014;5:162. doi:10.3389/fimmu.2014.00162.
2. Buckley RH. The multiple causes of human SCID. J Clin Invest. 2004;114(10):1409–11. doi:10.1172/JCI23571.
3. Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD. How i treat ADA deficiency. Blood. 2009;114(17):3524–32. doi:10.1182/blood-2009-06-189209.
4. Ochs HD, Puck J. Primary Immunodeficiency Diseases, A Molecular and Genetic Approach. 2nd ed. 2006–7.
5. Feske S. ORAI1 and STIM1 deficiency in human and mice: roles of store-operated Ca2+ entry in the immune system and beyond. Immunol Rev. 2009;231(1):189–209. doi:10.1111/j.1600-065X.2009.00818.x.
6. Griscelli C, Lisowska-Grospierre B, Mach B. Combined immunodeficiency with defective expression in MHC class II genes. Immunodefic Rev. 1989;1(2):135–53.
7. Puck JM. Neonatal screening for severe combined immunodeficiency. Curr Opin Pediatr. 2011;23(6):667–73. doi:10.1097/MOP.0b013e32834cb9b0.
8. Ghosh S, May MJ, Kopp EB. NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses. Annu Rev Immunol. 1998;16:225–60. doi:10.1146/annurev.immunol.16.1.225.
9. Thome M, Charton JE, Pelzer C, Hailfinger S. Antigen receptor signaling to NF-kappaB via CARMA1, BCL10, and MALT1. Cold Spring Harb Perspect Biol. 2010;2(9):a003004. doi:10.1101/cshperspect.a003004.
10. Ruefli-Brasse AA, French DM, Dixit VM. Regulation of NF-kappaB-dependent lymphocyte activation and development by paracaspase. Science. 2003;302(5650):1581–4. doi:10.1126/science.1090769.
11. Thome M, Tschopp J. TCR-induced NF-kappaB activation: a crucial role for Carma1, Bcl10 and MALT1. Trends Immunol. 2003;24(8):419–24.
12. Qiao Q, Yang C, Zheng C, Fontan L, David L, Yu X, et al. Structural architecture of the CARMA1/Bcl10/MALT1 signalosome: nucleation-induced filamentous assembly. Mol Cell. 2013;51(6):766–79. doi:10.1016/j.molcel.2013.08.032.
13. Ruland J, Mak TW. Transducing signals from antigen receptors to nuclear factor kappaB. Immunol Rev. 2003;193:93–100.
14. Thome M. CARMA1, BCL-10 and MALT1 in lymphocyte development and activation. Nat Rev Immunol. 2004;4(5):348–59. doi:10.1038/nri1352.
15. Oeckinghaus A, Wegener E, Welteke V, Ferch U, Arslan SC, Ruland J, et al. Malt1 ubiquitination triggers NF-kappaB signaling upon T-cell activation. EMBO J. 2007;26(22):4634–45. doi:10.1038/sj.emboj.7601897.
16. Sun L, Deng L, Ea CK, Xia ZP, Chen ZJ. The TRAF6 ubiquitin ligase and TAK1 kinase mediate IKK activation by BCL10 and MALT1 in T lymphocytes. Mol Cell. 2004;14(3):289–301.
17. Zhou H, Wertz I, O’Rourke K, Ultsch M, Seshagiri S, Eby M, et al. Bcl10 activates the NF-kappaB pathway through ubiquitination of NEMO. Nature. 2004;427(6970):167–71. doi:10.1038/nature02273.
18. Orange JS, Geha RS. Finding NEMO: genetic disorders of NF-[kappa]B activation. J Clin Invest. 2003;112(7):983–5. doi:10.1172/JCI19960.
19. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, et al. 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. 2000;67(6):1555–62. doi:10.1086/316914.
20. Greil J, Rausch T, Giese T, Bandapalli OR, Daniel V, Bekeredjian-Ding I, et al. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. J Allergy Clin Immunol. 2013;131(5):1376–83 e3. doi:10.1016/j.jaci.2013.02.012.
21. Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. J Allergy Clin Immunol. 2013;131(2):477–85 e1. doi:10.1016/j.jaci.2012.11.050.
22. Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013;132(1):151–8. doi:10.1016/j.jaci.2013.04.047.
23. McKinnon ML, Rozmus J, Fung SY, Hirschfeld AF, Del Bel KL, Thomas L, et al. Combined immunodeficiency associated with homozygous MALT1 mutations. J Allergy Clin Immunol. 2013. doi:10.1016/j.jaci.2013.10.045.
24. Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, et al. The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. J Allergy Clin Immunol. 2014;134(2):276–84. doi:10.1016/j.jaci.2014.06.015.
25. Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540–9. doi:10.1007/s10875-012-9846-1.
26. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115(2):391–8. doi:10.1016/j.jaci.2004.10.012.
27. Mulder A, Kardol MJ, Uit het Broek CM, Tanke-Visser J, Young NT, Claas FH. A human monoclonal antibody against HLA-Cw1 and a human monoclonal antibody against an HLA-A locus determinant derived from a single uniparous female. Tissue Antigens. 1998;52(4):393–6.
28. Zoet YM, Eijsink C, Bohmova R, Witvliet MD, Kardol MJ, Franke ME, et al. Single-antigen-expressing cell lines are excellent tools for detecting human leukocyte antigen-C-reactive antibodies in kidney transplant recipients. Transplantation. 2005;79(9):1268–72.
29. Duquesnoy RJ, Marrari M, Jelenik L, Zeevi A, Claas FH, Mulder A. Structural aspects of HLA class I epitopes reacting with human monoclonal antibodies in Ig-binding, C1q-binding and lymphocytotoxicity assays. Hum Immunol. 2013;74(10):1271–9. doi:10.1016/j.humimm.2013.05.016.
30. Yu JW, Jeffrey PD, Ha JY, Yang X, Shi Y. Crystal structure of the mucosa-associated lymphoid tissue lymphoma translocation 1 (MALT1) paracaspase region. Proc Natl Acad Sci U S A. 2011;108(52):21004–9. doi:10.1073/pnas.1111708108.
31. Nakielny S, Dreyfuss G. Nuclear export of proteins and RNAs. Curr Opin Cell Biol. 1997;9(3):420–9.
32. Kau TR, Way JC, Silver PA. Nuclear transport and cancer: from mechanism to intervention. Nat Rev Cancer. 2004;4(2):106–17. doi:10.1038/nrc1274.
33. Izumiyama K, Nakagawa M, Yonezumi M, Kasugai Y, Suzuki R, Suzuki H, et al. Stability and subcellular localization of API2-MALT1 chimeric protein involved in t(11;18) (q21;q21) MALT lymphoma. Oncogene. 2003;22(50):8085–92. doi:10.1038/sj.onc.1207002.
34. Nakagawa M, Hosokawa Y, Yonezumi M, Izumiyama K, Suzuki R, Tsuzuki S, et al. MALT1 contains nuclear export signals and regulates cytoplasmic localization of BCL10. Blood. 2005;106(13):4210–6. doi:10.1182/blood-2004-12-4785.
35. Ruland J, Duncan GS, Wakeham A, Mak TW. Differential requirement for Malt1 in T and B cell antigen receptor signaling. Immunity. 2003;19(5):749–58.
36. Ferch U, zum Buschenfelde CM, Gewies A, Wegener E, Rauser S, Peschel C, et al. MALT1 directs B cell receptor-induced canonical nuclear factor-kappaB signaling selectively to the c-Rel subunit. Nat Immunol. 2007;8(9):984–91. doi:10.1038/ni1493.
37. Schmidt-Supprian M, Tian J, Grant EP, Pasparakis M, Maehr R, Ovaa H, et al. Differential dependence of CD4 + CD25+ regulatory and natural killer-like T cells on signals leading to NF-kappaB activation. Proc Natl Acad Sci U S A. 2004;101(13):4566–71. doi:10.1073/pnas.0400885101.
38. Molinero LL, Yang J, Gajewski T, Abraham C, Farrar MA, Alegre ML. CARMA1 controls an early checkpoint in the thymic development of FoxP3+ regulatory T cells. J Immunol. 2009;182(11):6736–43. doi:10.4049/jimmunol.0900498.
39. Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med. 2013;369(26):2504–14. doi:10.1056/NEJMoa1309199.
40. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60. doi:10.1093/bioinformatics/btp324.
41. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491–8. doi:10.1038/ng.806.
42. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303. doi:10.1101/gr.107524.110.
43. Cingolani P, Platts A, le Wang L, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. 2012;6(2):80–92. doi:10.4161/fly.19695.