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Monoallelic STAT1 mutations and disease patterns

Publication: LymphoSign Journal
11 September 2014

Abstract

Monoallelic mutations in STAT1 are associated with a myriad of clinical phenotypes. Some clinical patterns appear to be preferentially associated with mutations in various STAT1 domains. Included are trends of phenotype-genotype correlations in patients with mutations in STAT1.

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REFERENCES

Ahonen P., Myllärniemi S., Sipilä I., and Perheentupa J. Clinical variation of autoimmune polynendocrinolopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients N. Engl. J. Med. 1990 322 1829
Bentur L., Nisbet-Brown E., Levison H., and Roifman C.M. Lung disease associated with IgG subclass deficiency in chronic mucocutaneous candidiasis J. Pediatr. 1991 118 82
Finnish–German APECED Cosortium An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains Nat. Genet. 1997 17 399
Liu L., Okada S., Kong X.F., Smeekens S.P., Joosten L.A.B., Gilissen C., Arts P., Rosentul D.C., Carmichael A.J., Smits-van der Graaf C.A.A., Bart Jan Kullberg B.J., van der Meer J.W.M., Desa Lilic D., Veltman J.A., and Netea M.G. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis J. Exp. Med. 2011 208 1635
Maródi L., Cypopwyj S., Tóth B., Smeekens S.P., Joosten L.A.B., Gilissen C., Arts P., Rosentul D.C., Carmichael A.J., Smits-van der Graaf C.A.A., Bart Jan Kullberg B.J., van der Meer J.W.M., Desa Lilic D., Veltman J.A., and Netea M.G. Molecular mechanisms of mucocutaneous immunity against cadida and Staphylococcus species J. Allergy. Clin. Immunol. 2012 130 1019
Sampaio E.P., Hsu A.P., Pechacek J., Bax H.I., Dias D.L., Paulson M.L., Chandrasekaran P., Rosen L.B., Carvalho D.S., Ding L., Vinh D.C., Browne S.K., Datta S., Milner J.D., Kuhns D.B., Long Priel D.A., Sadat M.A., Shiloh M., De Marco B., Alvares M., Gillman J.W., Ramarathnam V., de la Morena M., Bezrodnik L., Moreira I., Uzel G., Johnson D., Spalding C., Zerbe C.S., Wiley H., Greenberg D.E., Hoover S.E., Rosenzweig S.D., Galgiani J.N., and Holland S.M. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation and disseminated coccidiodomycosis and histoplasmosis J. Allergy. Clin. Immunol. 2013 131 1624
Sharfe N., Nahum A., Newell A., Dadi H., Ngan B., Pereira S.L., Herbrick J.A., and Roifman C.M. Fatal combined immunodeficiency associated with heterozygous mutation in STAT1 J. Allergy. Clin. Immunol. 2014 133 807
Takezaki S., Yamada M., Kato M., Park M.J., Maruyama K., Yamazaki Y., Chida N., Ohara O., Kobayashi I., and Ariga T. Chronic Mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain J. Immunol. 2012 189 1521
Uzel G., Sampaio E.P., Lawrence M.G., Hsu A.P., Hackett M., Dorsey M.J., Noel R.J., Verbsky J.W., Freeman A.F., Janssen E., Bonilla F.A., Pechacek J., Chandrasekaran P., Browne S.K., Agharahimi A., Gharib A.M., Mannurita S.C., Yim J.J., Gambineri E., Torgerson T., Tran D.Q., Milner J.D., and Holland S.M. Dominant gain-of-funtion STAT1 mutationsin FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome J. Allergy. Clin. Immunol. 2013 131 1611
Van de Veerdonk F.L., Plantinga T.S., Hoischen A., Smeekens S.P., Joosten L.A.B., Gilissen C., Arts P., Rosentul D.C., Carmichael A.J., Smits-van der Graaf C.A.A., Bart Jan Kullberg B.J., van der Meer J.W.M., Desa Lilic D., Veltman J.A., and Netea M.G. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis N. Eng. J. Med. 2011 365 54
Chaim M. Roifman, MD, FRCP, FCACB
Editor-in-Chief

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Published In

cover image LymphoSign Journal
LymphoSign Journal
Volume 1Number 2December 2014
Pages: 57 - 59

History

Accepted manuscript online: 11 September 2014
Version of record online: 11 September 2014

Authors

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Chaim M. Roifman, MD, FRCP, FCACB

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Cited by

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2. Autosomal dominant transmission of signal transduction and activator of transcription 1 (STAT1) mutation (Thr385Met) and extended lifespan

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