Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups

Molecular Immunology

Volumn 46, Issue 1, 2008, Pages 202-206

  Jiao, Hong ^a   Tóth, Beáta ^b   Erdos, Melinda ^b   Fransson, Ingegerd ^a   Rákóczi, Éva ^b   Balogh, István ^b   Magyarics, Zoltán ^b   Dérfalvi, Beáta ^c   Csorba, Gabriella ^b   Szaflarska, Anna ^d   Megarbane, Andre ^e   Akatcherian, Carlo ^e   Dbaibo, Ghassan ^f   Rajnavölgyi, Éva ^b   Hammarström, Lennart ^a   Kere, Juha ^a   Lefranc, Gérard ^g   Maródi, László ^b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF DEBRECEN   (Hungary)

^c SEMMELWEIS UNIVERSITY   (Hungary)

^d JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^g CNRS and University Montpellier II   (France)

Author keywords

Hyper IgE syndrome; STAT3 mutation

Indexed keywords

INTERLEUKIN 6; MONOCYTE CHEMOTACTIC PROTEIN 1; PROTEIN SH2;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOKINE PRODUCTION; ETHNIC GROUP; FAMILIAL DISEASE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GERM LINE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUNGARY; HYPER IGE SYNDROME; LEBANON; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; POLAND; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DNA BINDING; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RUSSIAN FEDERATION; SCHOOL CHILD; STAT3 GENE; SWEDEN;

ADULT; CHILD; CHILD, PRESCHOOL; DEMOGRAPHY; DNA; ETHNIC GROUPS; FEMALE; HUMANS; JOB'S SYNDROME; MALE; MUTATION; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RESTRICTION MAPPING; STAT3 TRANSCRIPTION FACTOR;

EID: 52949142293     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2008.07.001     Document Type: Article

References (17)

1. Becker S., Groner B., and Müller C.W. Three-dimensional structure of the Stat3beta homodimer bound to DNA. Nature 394 (1998) 145-151
2. Buckley R.H. The hyper-IgE syndrome. Clin. Rev. Allergy Immunol. 20 (2001) 139-154
3. Chen X., Vinkemeier U., Zhao Y., Jeruzalmi D., Darnell Jr. J.E., and Kuriyan J. Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA. Cell 93 (1998) 827-839
4. Chen Z., Laurence A., and O'Shea J.J. Signal transduction pathways and transcriptional regulation in the control of Th17 differentiation. Semin. Immunol 19 (2007) 400-408
5. Davis S.D., Schaller J., and Wedgwood R.J. Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. Lancet 1 (1966) 1013-1015
6. Freeman A.F., Collura-Burke C.J., Patronas N.J., Ilcus L.S., Darnell D., Davis J., Puck J.M., and Holland S.M. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics 119 (2007) e1121-e1125
7. Grimbacher B., Holland S.M., and Puck J.M. Hyper-IgE syndromes. Immunol. Rev. 203 (2005) 244-250
8. Holland S.M., DeLeo F.R., Elloumi H.Z., Hsu A.P., Uzel G., Brodsky N., Freeman A.F., Demidowich A., Davis J., Turner M.L., Anderson V.L., Darnell D.N., Welch P.A., Kuhns D.B., Frucht D.M., Malech H.L., Gallin J.I., Kobayashi S.D., Whitney A.R., Voyich J.M., Musser J.M., Woellner C., Schäffer A.A., Puck J.M., and Grimbacher B. STAT3 Mutations in the Hyper-IgE Syndrome. N. Engl. J. Med. 357 (2007) 1608-1619
9. Ling J.C., Freeman A.F., Gharib A.M., Arai A.E., Lederman R.J., Rosing D.R., and Holland S.M. Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin. Immunol. 122 (2007) 255-258
10. Mathur A.N., Chang H.C., Zisoulis D.G., Stritesky G.L., Yu Q., O'Malley J.T., Kapur R., Levy D.E., Kansas G.S., and Kaplan M.H. Stat3 and Stat4 direct development of IL-17-secreting Th cells. J. Immunol. 178 (2007) 4901-4907
11. Minegishi Y., Saito M., Morio T., Watanabe K., Agematsu K., Tsuchiya S., Takada H., Hara T., Kawamura N., Ariga T., Kaneko H., Kondo N., Tsuge I., Yachie A., Sakiyama Y., Iwata T., Bessho F., Ohishi T., Joh K., Imai K., Kogawa K., Shinohara M., Fujieda M., Wakiguchi H., Pasic S., Abinun M., Ochs H.D., Renner E.D., Jansson A., Belohradsky B.H., Metin A., Shimizu N., Mizutani S., Miyawaki T., Nonoyama S., and Karasuyama H. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 25 (2006) 745-755
12. Minegishi Y., Saito M., Tsuchiya S., Tsuge I., Takada H., Hara T., Kawamura N., Ariga T., Pasic S., Stojkovic O., Metin A., and Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448 (2007) 1058-1062
13. Ng P.C., and Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 12 (2002) 436-446
14. Ramensky V., Bork P., and Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30 (2002) 3894-3900
15. Renner E.D., Puck J.M., Holland S.M., Schmitt M., Weiss M., Frosch M., Bergmann M., Davis J., Belohradsky B.H., and Grimbacher B. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J. Pediatr. 144 (2004) 93-99
16. Takeda K., Noguchi K., and Shi W. Targeted disruption of the mouse Stat3 gene leads to early embryonic lethality. Proc. Natl. Acad. Sci. U.S.A. 94 (1997) 3801-3804
17. Yang X.O., Panopoulos A.D., Nurieva R., Chang S.H., Wang D., Watowich S.S., and Dong C. STAT3 regulates cytokine-mediated generation of inflammatory helper T cells. J. Biol. Chem. 282 (2007) 9358-9363