Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

Human Mutation

Volumn 33, Issue 9, 2012, Pages 1377-1387

  Tsumura, Miyuki ^a   Okada, Satoshi ^a,b   Sakai, Hidemasa ^c   Yasunaga, Shin'ichiro ^d   Ohtsubo, Motoaki ^d   Murata, Takuji ^e   Obata, Hideto ^f,g   Yasumi, Takahiro ^c   Kong, Xiao Fei ^b   Abhyankar, Avinash ^b   Heike, Toshio ^c   Nakahata, Tatsutoshi ^h   Nishikomori, Ryuta ^c   Al Muhsen, Saleh ^i,j   Boisson Dupuis, Stéphanie ^b,k   Casanova, Jean Laurent ^b,k   Alzahrani, Mofareh ^l   Shehri, Mohammed Al ^l   Elghazali, Geyhad ^l   Takihara, Yoshihiro ^d   Kobayashi, Masao ^a   more..

^a HIROSHIMA UNIVERSITY   (Japan)

^b ROCKEFELLER UNIVERSITY   (United States)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d HIROSHIMA UNIVERSITY   (Japan)

^e OSAKA MEDICAL COLLEGE   (Japan)

^f OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g Yukoukai General Hospital   (Japan)

^h KYOTO UNIVERSITY   (Japan)

ⁱ KING SAUD UNIVERSITY   (Saudi Arabia)

^j KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^k IMAGINE INSTITUTE   (France)

^l KING FAHAD MEDICAL CITY   (Saudi Arabia)

more..

Author keywords

Dominant negative effect; MSMD; Osteomyelitis; STAT1

Indexed keywords

ALPHA INTERFERON; CIPROFLOXACIN; GAMMA INTERFERON; INTERLEUKIN 27; INTERLEUKIN 29; ISONIAZID; PROTEIN SH2; RIFAMPICIN; STAT1 PROTEIN; TYROSINE;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BCG VACCINATION; BONE BIOPSY; CASE REPORT; CELL STIMULATION; CELLULAR IMMUNITY; CONTROLLED STUDY; CYTOKINE PRODUCTION; DIMERIZATION; DNA BINDING; FAMILY HISTORY; FEMALE; GENE INDUCTION; GENE MUTATION; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; JAPAN; MALE; MISSENSE MUTATION; MYCOBACTERIOSIS; MYCOBACTERIUM TUBERCULOSIS; OSTEOMYELITIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; SAUDI ARABIA; SIGNAL TRANSDUCTION; SKIN BIOPSY;

ACTIVE TRANSPORT, CELL NUCLEUS; ALLELES; BCG VACCINE; CHILD; CYTOKINES; DISEASE SUSCEPTIBILITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HUMANS; INFANT; INTERFERON-ALPHA; INTERFERON-GAMMA; INTERLEUKINS; LEUKOCYTES, MONONUCLEAR; LOSS OF HETEROZYGOSITY; MALE; MUTATION, MISSENSE; MYCOBACTERIUM BOVIS; MYCOBACTERIUM TUBERCULOSIS; PHOSPHORYLATION; PROTEIN MULTIMERIZATION; SIGNAL TRANSDUCTION; SRC HOMOLOGY DOMAINS; STAT1 TRANSCRIPTION FACTOR; TUBERCULOSIS; TYROSINE;

BACTERIA (MICROORGANISMS);

EID: 84865174263     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22113     Document Type: Article

References (51)

1. Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Doffinger R, Bernaudin F, Jeppsson O, Gollob JA, et al. 1998a. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280:1432-1435.
2. Altare F, Lammas D, Revy P, Jouanguy E, Doffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, et al. 1998b. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J Clin Invest 102:2035-2040.
3. Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, et al. 2011. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol 12:213-221.
4. Casanova JL, Abel L. 2002. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 20:581-620.
5. Casanova JL, Abel L. 2007. Primary immunodeficiencies: a field in its infancy. Science 317:617-619.
6. Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, et al. 2006a. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet 2:e131.
7. Chapgier A, Kong XF, Boisson-Dupuis S, Jouanguy E, Averbuch D, Feinberg J, Zhang SY, Bustamante J, Vogt G, Lejeune J, Mayola E, de Beaucoudrey L, et al. 2009. A partial form of recessive STAT1 deficiency in humans. J Clin Invest 119:1502-1514.
8. Chapgier A, Wynn RF, Jouanguy E, Filipe-Santos O, Zhang S, Feinberg J, Hawkins K, Casanova JL, Arkwright PD. 2006b. Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J Immunol 176:5078-5083.
9. Chen X, Vinkemeier U, Zhao Y, Jeruzalmi D, Darnell JE Jr., Kuriyan J. 1998. Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA. Cell 93:827-839.
10. de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Janniere L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, et al. 2010. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 89:381-402.
11. de Jong R, Altare F, Haagen IA, Elferink DG, Boer T, van Breda Vriesman PJ, Kabel PJ, Draaisma JM, van Dissel JT, Kroon FP, Casanova JL, Ottenhoff TH. 1998. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280:1435-1438.
12. Doffinger R, Jouanguy E, Dupuis S, Fondaneche MC, Stephan JL, Emile JF, Lamhamedi-Cherradi S, Altare F, Pallier A, Barcenas-Morales G, Meini E, Krause C, et al. 2000. Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection. J Infect Dis 181:379-384.
13. Dorman SE, Holland SM. 1998. Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 101:2364-2369.
14. Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, Rosenzweig SD, Newport M, Levin M, Roesler J, Kumararatne D, Casanova JL, et al. 2004. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 364:2113-2121.
15. Doyle SE, Schreckhise H, Khuu-Duong K, Henderson K, Rosler R, Storey H, Yao L, Liu H, Barahmand-pour F, Sivakumar P, Chan C, Birks C, et al. 2006. Interleukin-29 uses a type 1 interferon-like program to promote antiviral responses in human hepatocytes. Hepatology 44:896-906.
16. Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, Holland SM, Schreiber RD, Casanova JL. 2001. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 293:300-303.
17. Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, Yang K, Chapgier A, Eidenschenk C, Eid P, Al Ghonaium A, Tufenkeji H, et al. 2003. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 33:388-391.
18. Feinberg J, Fieschi C, Doffinger R, Feinberg M, Leclerc T, Boisson-Dupuis S, Picard C, Bustamante J, Chapgier A, Filipe-Santos O, Ku CL, de Beaucoudrey L, et al. 2004. Bacillus Calmette-Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur J Immunol 34:3276-3284.
19. Fieschi C, Bosticardo M, de Beaucoudrey L, Boisson-Dupuis S, Feinberg J, Santos OF, Bustamante J, Levy J, Candotti F, Casanova JL. 2004. A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors. Blood 104:2095-2101.
20. Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, Jouanguy E, Boisson-Dupuis S, Fieschi C, Picard C, Casanova JL. 2006a. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 18:347-361.
21. Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, et al. 2006b. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 203:1745-1759.
22. Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, Menon G, Trouillet C, et al. 2011. IRF8 mutations and human dendritic-cell immunodeficiency. NEngl J Med 365:127-138.
23. Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. 2005. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33:D514-D517.
24. Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL. 1996. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 335:1956-1961.
25. Jouanguy E, Dupuis S, Pallier A, Doffinger R, Fondaneche MC, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile JF, Lutz P, Bordigoni P, Cokugras H, et al. 2000. In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest 105:1429-1436.
26. Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondaneche MC, Tuerlinckx D, Blanche S, Emile JF, Gaillard JL, Schreiber R, Levin M, Fischer A, Hivroz C, et al. 1997. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J Clin Invest 100:2658-2664.
27. Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondaneche MC, Dupuis S, Doffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, et al. 1999. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet 21:370-378.
28. Kim HS, Lee MS. 2007. STAT1 as a key modulator of cell death. Cell Signal 19:454-465.
29. Kim TK, Maniatis T. 1996. Regulation of interferon-gamma-activated STAT1 by the ubiquitin-proteasome pathway. Science 273:1717-1719.
30. Kong XF, Ciancanelli M, Al-Hajjar S, Alsina L, Zumwalt T, Bustamante J, Feinberg J, Audry M, Prando C, Bryant V, Kreins A, Bogunovic D, et al. 2010. A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood 116:5895-5906.
31. Kotenko SV, Gallagher G, Baurin VV, Lewis-Antes A, Shen M, Shah NK, Langer JA, Sheikh F, Dickensheets H, Donnelly RP. 2003. IFN-lambdas mediate antiviral protection through a distinct class II cytokine receptor complex. Nat Immunol 4:69-77.
32. Kristensen IA, Veirum JE, Moller BK, Christiansen M. 2011. Novel STAT1 Alleles in a patient with impaired resistance to mycobacteria. J Clin Immunol 31:265-271.
33. Lim CP, Cao X. 2006. Structure, function, and regulation of STAT proteins. Mol Biosyst 2:536-550.
34. Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, et al. 2011. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 208:1635-1648.
35. Marcello T, Grakoui A, Barba-Spaeth G, Machlin ES, Kotenko SV, MacDonald MR, Rice CM. 2006. Interferons alpha and lambda inhibit hepatitis C virus replication with distinct signal transduction and gene regulation kinetics. Gastroenterology 131:1887-1898.
36. Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Ariga T, Pasic S, Stojkovic O, Metin A, Karasuyama H. 2007. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448:1058-1062.
37. Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M. 1996. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 335:1941-1949.
38. Ohno Y, Yasunaga S, Ohtsubo M, Mori S, Tsumura M, Okada S, Ohta T, Ohtani K, Kobayashi M, Takihara Y. 2010. Hoxb4 transduction down-regulates Geminin protein, providing hematopoietic stem and progenitor cells with proliferation potential. Proc Natl Acad Sci U S A 107:21529-21534.
39. Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M. 2007. The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction. J Med Genet 44:485-491.
40. Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, et al. 2011. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 332:65-68.
41. Reich NC. 2007. STAT dynamics. Cytokine Growth Factor Rev 18:511-518.
42. Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, Leppert MF, Getz MM, et al. 2008. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol 122:181-187.
43. Sheppard P, Kindsvogel W, Xu W, Henderson K, Schlutsmeyer S, Whitmore TE, Kuestner R, Garrigues U, Birks C, Roraback J, Ostrander C, Dong D, et al. 2003. IL-28, IL-29 and their class II cytokine receptor IL-28R. Nat Immunol 4:63-68.
44. Taniguchi T, Ogasawara K, Takaoka A, Tanaka N. 2001. IRF family of transcription factors as regulators of host defense. Annu Rev Immunol 19:623-655.
45. Ungureanu D, Silvennoinen O. 2005. SLIM trims STATs: ubiquitin E3 ligases provide insights for specificity in the regulation of cytokine signaling. Sci STKE 2005:pe49.
46. Vairo D, Tassone L, Tabellini G, Tamassia N, Gasperini S, Bazzoni F, Plebani A, Porta F, Notarangelo LD, Parolini S, . Giliani S, Badolato R. 2011. Severe impairment of IFN-gamma and IFN-alpha responses in cells of a patient with a novel STAT1 splicing mutation. Blood 118:1806-1817.
47. van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Smits-van der Graaf CA, Kullberg BJ, van der Meer JW, et al. 2011. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 365:54-61.
48. Vogt G, Bustamante J, Chapgier A, Feinberg J, Boisson Dupuis S, Picard C, Mahlaoui N, Gineau L, Alcais A, Lamaze C, Puck JM, de Saint Basile G, et al. 2008. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med 205:1729-1737.
49. Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, et al. 2005. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 37:692-700.
50. Yoshida H, Miyazaki Y. 2008. Regulation of immune responses by interleukin-27. Immunol Rev 226:234-247.
51. Zhang SY, Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, Picard C, Abel L, Jouanguy E, Casanova JL. 2008. Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense. Immunol Rev 226:29-40.