Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Journal of Clinical Immunology

Volumn 32, Issue 1, 2012, Pages 39-49

  Mizukami, Tomoyuki ^a,b   Obara, Megumi ^a   Nishikomori, Ryuta ^c   Kawai, Tomoki ^c   Tahara, Yoshihiro ^a   Sameshima, Naoki ^a   Marutsuka, Kousuke ^a   Nakase, Hiroshi ^c   Kimura, Nobuhiro ^d   Heike, Toshio ^c   Nunoi, Hiroyuki ^a  

^a UNIVERSITY OF MIYAZAKI   (Japan)

^b Kumamoto Saishunsou National Hospital   (Japan)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d FUKUOKA UNIVERSITY   (Japan)

Author keywords

Gene reversion; Infliximab; NEMO colitis

Indexed keywords

I KAPPA B KINASE GAMMA; INFLIXIMAB; TUMOR NECROSIS FACTOR ALPHA; ANTIINFLAMMATORY AGENT; I KAPPA B KINASE; IKBKG PROTEIN, HUMAN; MONOCLONAL ANTIBODY;

ARTICLE; AUTOIMMUNE DISEASE; CASE REPORT; CHILD; COLITIS; DISEASE SEVERITY; DRUG RESPONSE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE DEFICIENCY; IMMUNOSUPPRESSIVE TREATMENT; INFLAMMATORY COLITIS; MALE; PATHOGENESIS; PRIORITY JOURNAL; SCHOOL CHILD; SYMPTOM; T LYMPHOCYTE; X LINKED ANHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY; BIOSYNTHESIS; COLON; DRUG ANTAGONISM; GENETICS; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNOLOGY; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; TREATMENT OUTCOME;

ANTI-INFLAMMATORY AGENTS; ANTIBODIES, MONOCLONAL; BASE SEQUENCE; CHILD; COLITIS; COLON; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; HUMANS; I-KAPPA B KINASE; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION; T-LYMPHOCYTES; TREATMENT OUTCOME; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84862265794     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-011-9600-0     Document Type: Article

References (33)

1. Zonana J, Elder M, Schneider L, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKKgamma (NEMO). Am J Hum Genet. 2000;67:1555-62.
2. Döffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001;27:277-85. (Pubitemid 32201848)
3. Jain A, Ma CA, Liu S, et al. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol. 2001;2:223-8. (Pubitemid 33705998)
4. Orange JS, Brodeur SR, Jain A, et al. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. J Clin Invest. 2002;109:1501-9. (Pubitemid 34596176)
5. Orange JS, Jain A, Ballas ZK, et al. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol. 2004;113:725-33. (Pubitemid 38530430)
6. Pai S, Levy O, Jabara H, et al. Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency. J Allergy Clin Immunol. 2008;122:1113-1118.e1111.
7. Tono C, Takahashi Y, Terui K, et al. Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen. Bone Marrow Transplant. 2007;39:801-4. (Pubitemid 46901979)
8. Mancini AJ, Lawley LP, Uzel G. X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. Arch Dermatol. 2008;144:342-6. (Pubitemid 351439117)
9. Fish J, Duerst R, Gelfand E, et al. Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. Bone Marrow Transplant. 2009;43:217-21.
10. Permaul P, Narla A, Hornick J, et al. Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. Immunol Res. 2009;44:89-98.
11. Cheng L, Kanwar B, Tcheurekdjian H, et al. Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. Clin Immunol. 2009;132:124-31.
12. Hanson E, Monaco-Shawver L, Solt L, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122:1169-1177.e1116.
13. Takada H, Nomura A, Ishimura M, et al. NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients. Clin Genet. 2010;78:575-9.
14. Marks DJ, Miyagi K, Rahman FZ, et al. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease. Am J Gastroenterol. 2009;104:117-24.
15. Nenci A, Becker C, Wullaert A, et al. Epithelial NEMO links innate immunity to chronic intestinal inflammation. Nature. 2007;446:557-61. (Pubitemid 46514732)
16. Nagano M, Kimura N, Ishii E, et al. Clonal expansion of alphabeta-T lymphocytes with inverted Jbeta1 bias in familial hemophagocytic lymphohistiocytosis. Blood. 1999;94:2374-82. (Pubitemid 29467685)
17. Kimura N, Toyonaga B, Yoshikai Y, et al. Sequences and repertoire of the human T cell receptor alpha and beta chain variable region genes in thymocytes. Eur J Immunol. 1987;17:375-83. (Pubitemid 17060792)
18. Nishikomori R, Akutagawa H, Maruyama K, et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood. 2004;103:4565-72. (Pubitemid 38745984)
19. Ogura Y, Imamura Y, Murakami Y, et al. Intracellular cytokine patterns of peripheral blood T cells as a useful indicator of activeness of Crohn's disease. Hiroshima J Med Sci. 2005;54:1-8. (Pubitemid 40563064)
20. Stephan V, Wahn V, Le Deist F, et al. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med. 1996;335:1563-7. (Pubitemid 26384751)
21. Wada T, Yasui M, Toma T, et al. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. Blood. 2008;112:1872-5.
22. Hirschhorn R, Yang D, Puck J, et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet. 1996;13:290-5. (Pubitemid 26230494)
23. Wada T, Toma T, Okamoto H, et al. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood. 2005;106:2099-101. (Pubitemid 41291725)
24. Ariga T, Kondoh T, Yamaguchi K, et al. Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. J Immunol. 2001;166:5245-9. (Pubitemid 32280741)
25. Filipe-Santos O, Bustamante J, Haverkamp MH, 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. (Pubitemid 44036280)
26. Nenci A, Huth M, Funteh A, et al. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling. Hum Mol Genet. 2006;15:531-42. (Pubitemid 43205419)
27. Van den Brande J, Braat H, van den Brink G, et al. Infliximab but not etanercept induces apoptosis in lamina propria T-lymphocytes from patients with Crohn's disease. Gastroenterology. 2003;124:1774-85. (Pubitemid 36666774)
28. Nos P, Bastida G, Beltran B, et al. Crohn's disease in common variable immunodeficiency: treatment with antitumor necrosis factor alpha. Am J Gastroenterol. 2006;101:2165-6. (Pubitemid 44337648)
29. Chua I, Standish R, Lear S, et al. Anti-tumour necrosis factoralpha therapy for severe enteropathy in patients with common variable immunodeficiency (CVID). Clin Exp Immunol. 2007;150:306-11. (Pubitemid 47609561)
30. Uzel G, Orange JS, Poliak N, et al. Complications of tumor necrosis factor-à blockade in chronic granulomatous diseaserelated colitis. Clin Infect Dis. 2010;51:1429-34.
31. Mackey AC, Green L, Liang LC, et al. Hepatosplenic T cell lymphoma associated with infliximab use in young patients treated for inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2007;44:265-7. (Pubitemid 46175082)
32. Mackey AC, Green L, Leptak C, et al. Hepatosplenic T cell lymphoma associated with infliximab use in young patients treated for inflammatory bowel disease: update. J Pediatr Gastroenterol Nutr. 2009;48:386-8.
33. Diak P, Siegel J, La Grenade L, et al. Tumor necrosis factor alpha blockers and malignancy in children: forty-eight cases reported to the Food and Drug Administration. Arthritis Rheum. 2010;62:2517-24.