Pathologic findings in NEMO deficiency: A surgical and autopsy survey

Pediatric and Developmental Pathology

Volumn 18, Issue 5, 2015, Pages 387-400

  Huppmann, Alison R ^a   Leiding, Jennifer W ^b,c   Hsu, Amy P ^b   Raffeld, Mark ^a   Uzel, Gulbu ^b   Pittaluga, Stefania ^a   Holland, Steven M ^b  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Autopsy; Immunodeficiency; Mycobacteria; NEMO; NF B; Pathology

Indexed keywords

I KAPPA B KINASE GAMMA; I KAPPA B KINASE; IKBKG PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; ATYPICAL MYCOBACTERIOSIS; AUTOPSY; BLOOD; BONE MARROW; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; ECTODERMAL DYSPLASIA; ENZYME DEFICIENCY; FIBROMATOSIS; GASTROINTESTINAL TRACT; GENE; GENOTYPE; HUMAN; HUMAN TISSUE; IKBKG GENE; INFLAMMATION; LIVER; LYMPH NODE; MICROADENOMA; NONSENSE MUTATION; NONTUBERCULOUS MYCOBACTERIAL INFECTION; NUCLEAR FACTOR KAPPA B ESSENTIAL MODULATOR DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN; SPLEEN; THYMUS; COMMON VARIABLE IMMUNODEFICIENCY; DEFICIENCY; FEMALE; GENETICS; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COMMON VARIABLE IMMUNODEFICIENCY; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; I-KAPPA B KINASE; MALE; MIDDLE AGED; YOUNG ADULT;

EID: 84948947546     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/15-05-1631-OA.1     Document Type: Article

References (26)

1. Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kB signaling. Nat Genet 2001;27:277-285.
2. Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA. The presentation and natural history of immunodeficiency caused by nuclear factor kB essential modulator mutation. J Allergy Clin Immunol 2004;113:725-733.
3. Zonana J, Elder ME, Schneider LC, 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;67:1555-1562.
4. Gilmore TD. Introduction to NF-kB: players, pathways, perspectives. Oncogene 2006;25:6680-6684.
5. Castaneda B, Simon Y, Jacques J, et al. Bone resorption control of tooth eruption and root morphogenesis: Involvement of the receptor activator of NF-kB (RANK). J Cell Physiol 2011;226:74-85.
6. Hanson EP, Monaco-Shawver L, Solt LA, et al. Hypomorphic nuclear factor-kB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol 2008;122:1169.e16-1177.e16.
7. Cheng LE, Kanwar B, Tcheurekdjian H, et al. Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. Clin Immunol 2009;132:124-131.
8. Nedorost ST, Elewski B, Tomford JW, Camisa C. Rosacea-like lesions due to familial Mycobacterium avium-intracellulare infection. Int J Dermatol 1991;30:491-497.
9. Temmerman ST, Ma CA, Zhao Y, et al. Defective nuclear IKKa function in patients with ectodermal dysplasia with immune deficiency. J Clin Invest 2012;122:315-326.
10. Orange JS, Brodeur SR, Jain A, et al. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. J Clin Invest 2002;109:1501-1509.
11. Vedvyas C, Winterfield LS, Vleugels RA. Calciphylaxis: a systematic review of existing and emerging therapies. J Am Acad Dermatol 2012;67:e253-260.
12. Bardin T. Musculoskeletal manifestations of chronic renal failure. Curr Opin Rheumatol 2003;15:48-54.
13. Osako MK, Nakagami H, Shimamura M, et al. Cross-talk of receptor activator of nuclear factor-kB ligand signaling with reninangiotensin system in vascular calcification. Arterioscler Thromb Vasc Biol 2013;33:1287-1296.
14. Darnay BG, Ni J, Moore PA, Aggarwal BB. Activation of NF-kB by RANK requires tumor necrosis factor receptorassociated factor (TRAF) 6 and NF-kB-inducing kinase: identification of a novel TRAF6 interaction motif. J Biol Chem 1999;274:7724-7731.
15. Sobacchi C, Frattini A, Guerrini MM, et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet 2007;39:960-962.
16. Dunn V, Condon VR, Rallison ML. Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy. AJR Am J Roentgenol 1979;132:541-545.
17. Nenci A, Becker C, Wullaert A, et al. Epithelial NEMO links innate immunity to chronic intestinal inflammation. Nature 2007;446:557-561.
18. Pasparakis M. IKK/NF-kB signaling in intestinal epithelial cells controls immune homeostasis in the gut. Mucosal Immunol 2008;1(suppl 1):S54-S57.
19. Spehlmann ME, Eckmann L. Nuclear factor-kB in intestinal protection and destruction. Curr Opin Gastroenterol 2009;25:92-99.
20. Haverkamp MH, Arend SM, Lindeboom JA, Hartwig NG, van Dissel JT. Nontuberculous mycobacterial infection in children: a 2-year prospective surveillance study in the Netherlands. Clin Infect Dis 2004;39:450-456.
21. 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: 1745-1759.
22. Holland SM, Eisenstein EM, Kuhns DB, et al. Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon gamma: a preliminary report. N Engl J Med 1994; 330:1348-1355.
23. von Bernuth H, Ku CL, Rodriguez-Gallego C, et al. A fast procedure for the detection of defects in Toll-like receptor signaling. Pediatrics 2006;118:2498-2503.
24. Dai YS, Liang MG, Gellis SE, et al. Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kB essential modulator mutation, with or without ectodermal dysplasia. J Am Acad Dermatol 2004;51:718-722.
25. Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001;2:223-228.
26. Jain A, Ma CA, Lopez-Granados E, et al. Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation. J Clin Invest 2004;114:1593-1602.