Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

Haematologica

Volumn 98, Issue 10, 2013, Pages 1641-1649

  Hirata, Osamu ^a   Okada, Satoshi ^a,b   Tsumura, Miyuki ^a   Kagawa, Reiko ^a   Miki, Mizuka ^a   Kawaguchi, Hiroshi ^a   Nakamura, Kazuhiro ^a   Boisson Dupuis, Stéphanie ^b,c   Casanova, Jean Laurent ^b,c   Takihara, Yoshihiro ^d   Kobayashi, Masao ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b ROCKEFELLER UNIVERSITY   (United States)

^c IMAGINE INSTITUTE   (France)

^d HIROSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; CD14 ANTIGEN; CEFOTAXIME; CLARITHROMYCIN; COTRIMOXAZOLE; CXCL9 CHEMOKINE; GAMMA INTERFERON; IMMUNOGLOBULIN G; PERVANADATE; RIFAMPICIN; STAT1 PROTEIN; TUMOR NECROSIS FACTOR;

ADULT; ARTICLE; ATYPICAL MYCOBACTERIOSIS; BACKACHE; BONE SCINTISCANNING; CASE REPORT; CHILD; CONTROLLED STUDY; DNA BINDING; EOSINOPHILIA; FEMALE; FEVER; FLOW CYTOMETRY; GEL MOBILITY SHIFT ASSAY; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; INFLAMMATION; INTERMITTENT CLAUDICATION; LEUKOCYTOSIS; MALE; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOMYELITIS; PRESCHOOL CHILD; RASH; REAL TIME POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; STAT1 GENE;

ADOLESCENT; CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE; HUMANS; MUTATION; MYCOBACTERIUM INFECTIONS, NONTUBERCULOUS; OSTEOMYELITIS; PEDIGREE; PHOSPHORYLATION; STAT1 TRANSCRIPTION FACTOR; TYROSINE;

EID: 84881133692     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2013.083741     Document Type: Article

References (48)

1. Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol. 2002;20:581-620.
2. Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005;33(Database issue):D514-7.
3. Alcais A, Fieschi C, Abel L, Casanova JL. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med. 2005;202(12):1617-21.
4. Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, et al. Inborn errors of IL-12/23-and IFN-gammamediated immunity: molecular, cellular, and clinical features. Semin Immunol. 2006;18(6):347-61.
5. Vogt G, Bustamante J, Chapgier A, Feinberg J, Boisson Dupuis S, Picard C, et al. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of Nglycosylation. J Exp Med. 2008;205(8): 1729-37.
6. Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol. 2011;12(3):213-21.
7. Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011;365 (2):127-38.
8. Al-Muhsen S, Casanova JL. The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol. 2008;122(6):1043-51; quiz 52-3.
9. Boisson-Dupuis S, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol. 2012;24(4):364-78.
10. Casanova JL, Holland SM, Notarangelo LD. Inborn errors of human JAKs and STATs. Immunity. 2012;36(4):515-28.
11. Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, et al. Mycobacterial disease and impaired IFNgamma immunity in humans with inherited ISG15 deficiency. Science. 2012;337 (6102):1684-8.
12. Casanova JL, Abel L. Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med. 2005;202(2):197-201.
13. Alcais A, Quintana-Murci L, Thaler DS, Schurr E, Abel L, Casanova JL. Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann NY Acad Sci. 2010;1214:18-33.
14. Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science. 2001;293(5528):300-3.
15. Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet. 2006;2(8):e131.
16. Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, et al. Dominantnegative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum Mutat. 2012;33(9):1377-87.
17. Sampaio EP, Bax HI, Hsu AP, Kristosturyan E, Pechacek J, Chandrasekaran P, et al. A novel STAT1 mutation associated with disseminated mycobacterial disease. J Clin Immunol. 2012;32(4):681-9.
18. Kristensen IA, Veirum JE, Moller BK, Christiansen M. Novel STAT1 alleles in a patient with impaired resistance to mycobacteria. J Clin Immunol. 2011;31(2): 265-71.
19. Vairo D, Tassone L, Tabellini G, Tamassia N, Gasperini S, Bazzoni F, et al. Severe impairment of IFN-gamma and IFN-alpha responses in cells of a patient with a novel STAT1 splicing mutation. Blood. 2011;118 (7):1806-17.
20. Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet. 2003;33(3):388-91.
21. Chapgier A, Wynn RF, Jouanguy E, Filipe-Santos O, Zhang S, Feinberg J, et al. 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. 2006;176 (8):5078-83.
22. Kong XF, Ciancanelli M, Al-Hajjar S, Alsina L, Zumwalt T, Bustamante J, et al. A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood. 2010;116(26):5895-906.
23. Shuai K, Ziemiecki A, Wilks AF, Harpur AG, Sadowski HB, Gilman MZ, et al. Polypeptide signalling to the nucleus through tyrosine phosphorylation of Jak and Stat proteins. Nature. 1993;366(6455): 580-3.
24. Chen X, Vinkemeier U, Zhao Y, Jeruzalmi D, Darnell JE Jr, Kuriyan J. Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA. Cell. 1998;93(5):827-39.
25. Bach EA, Aguet M, Schreiber RD. The IFN gamma receptor: a paradigm for cytokine receptor signaling. Annu Rev Immunol. 1997;15:563-91.
26. van Boxel-Dezaire AH, Stark GR. Cell typespecific signaling in response to interferongamma. Curr Top Microbiol Immunol. 2007;316:119-54.
27. Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, et al. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet. 2013;22(4):769-81.
28. Bernabei P, Coccia EM, Rigamonti L, Bosticardo M, Forni G, Pestka S, et al. Interferon-gamma receptor 2 expression as the deciding factor in human T, B, and myeloid cell proliferation or death. J Leukoc Biol. 2001;70(6):950-60.
29. Tourkine N, Schindler C, Larose M, Houdebine LM. Activation of STAT factors by prolactin, interferon-gamma, growth hormones, and a tyrosine phosphatase inhibitor in rabbit primary mammary epithelial cells. J Biol Chem. 1995;270 (36):20952-61.
30. Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-offunction human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208(8):1635-48.
31. van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365(1):54-61.
32. Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LA, et al. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS One. 2011;6(12):e29248.
33. Takezaki S, Yamada M, Kato M, Park MJ, Maruyama K, Yamazaki Y, et al. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol. 2012; 189(3):1521-6.
34. Toth B, Mehes L, Tasko S, Szalai Z, Tulassay Z, Cypowyj S, et al. Herpes in STAT1 gain-of-function mutation [corrected]. Lancet. 2012;379(9835):2500.
35. Taniguchi T, Ogasawara K, Takaoka A, Tanaka N. IRF family of transcription factors as regulators of host defense. Annu Rev Immunol. 2001;19:623-55.
36. Taki S, Sato T, Ogasawara K, Fukuda T, Sato M, Hida S, et al. Multistage regulation of Th1-type immune responses by the transcription factor IRF-1. Immunity. 1997;6(6): 673-9.
37. Lohoff M, Ferrick D, Mittrucker HW, Duncan GS, Bischof S, Rollinghoff M, et al. Interferon regulatory factor-1 is required for a T helper 1 immune response in vivo. Immunity. 1997;6(6):681-9.
38. Kamijo R, Harada H, Matsuyama T, Bosland M, Gerecitano J, Shapiro D, et al. Requirement for transcription factor IRF-1 in NO synthase induction in macrophages. Science. 1994;263(5153):1612-5.
39. Martin E, Nathan C, Xie QW. Role of interferon regulatory factor 1 in induction of nitric oxide synthase. J Exp Med. 1994;180 (3):977-84.
40. Gough DJ, Levy DE, Johnstone RW, Clarke CJ. IFNgamma signaling-does it mean JAK-STAT? Cytokine Growth Factor Rev. 2008;19(5-6):383-94.
41. Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004;364(9451):2113-21.
42. Hoshina T, Takada H, Sasaki-Mihara Y, Kusuhara K, Ohshima K, Okada S, et al. Clinical and host genetic characteristics of mendelian susceptibility to mycobacterial diseases in Japan. J Clin Immunol. 2011;31 (3):309-14.
43. Lee WI, Huang JL, Lin TY, Hsueh C, Wong AM, Hsieh MY, et al. Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferongamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele. J Clin Immunol. 2009;29(2):238-45.
44. Glosli H, Stray-Pedersen A, Brun AC, Holtmon LW, Tonjum T, Chapgier A, et al. Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency. Clin Infect Dis. 2008;46(3):e23-7.
45. Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, et al. 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. 2007;44(8):485-91.
46. Sologuren I, Boisson-Dupuis S, Pestano J, Vincent QB, Fernandez-Perez L, Chapgier A, et al. Partial recessive IFN-{gamma}R1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. Hum Mol Genet. 2011;20(8):1509-23.
47. de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381-402.
48. Ginter T, Bier C, Knauer SK, Sughra K, Hildebrand D, Munz T, et al. Histone deacetylase inhibitors block IFNgammainduced STAT1 phosphorylation. Cell Signal. 2012;24(7):1453-60.