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Contact Info

For information, or to submit a new mutation, contact the database curator.
Email: twins@mail.nih.gov

Additional Information From NIAID

Laboratory of Clinical Infectious Diseases

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Literature Citations

Hyper IgE Syndrome

Grimbacher B, Holland SM, Puck JM. Hyper-IgE Syndromes. Immunol Rev. 2005 Feb;203:244-50.

Buckley RH. The hyper-IgE syndrome. Clin Rev Allergy Immunol. 2001;20:139-54.

Grimbacher, B, Holland SM, Gallin JI et al. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999;340:692-702.

Hill HR. The syndrome of hyperimmunoglobulinemia E and recurrent infections. Am J Dis Child. 1982; 136(9):767-71.

Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972; 49:59-70.

Davis SD, Schaller J, Wedgwood RJ. Job's syndrome: recurrent, "cold", staphylococcal abscesses. Lancet. 1966. 1:1013-15.

Expanded Clinical Features

Ling JC, Freeman AF, Gharib AM, Arai AE, Lederman RJ, Rosing DR, Holland SM. Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin Immunol. 2007;122:255-8.

Freeman AF, Collura-Burke CJ, Patronas NJ, Ilcus LS, Darnell D, Davis J, Puck JM, Holland SM. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics. 2007;119:e1121-5.

Freeman AF, Kleiner DE, Nadiminti H, Davis J, Quezado M, Anderson V, Puck JM, Holland SM. Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol. 2007 ;119:1234-40.

Freeman AF, Ling J, Collins M, McCarthy E, Davis J, Puck J, Holland SM. Minimal trauma fractures and reduced bone mineral density in Hyper IgE Syndrome. Pediatric Academic Societies Annual Conference, Toronto, 2007.

Genetics

Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch P, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B. STAT3 Mutations in Hyper IgE Recurrent Infection Syndrome. N Engl J Med. 2007 Sept 18; [Epub ahead of print]

Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Ariga T, Pasic S, Stojkovic O, Metin A, Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007 Aug 5; [Epub ahead of print]

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Last Updated March 24, 2010