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. NEJM 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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