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Page 1
FOXP3 exon 2 controls Treg stability and autoimmunity.
Du J, Wang Q, Yang S, Chen S, Fu Y, Spath S, Domeier P, Hagin D, Anover-Sombke S, Haouili M, Liu S, Wan J, Han L, Liu J, Yang L, Sangani N, Li Y, Lu X, Janga SC, Kaplan MH, Torgerson TR, Ziegler SF, Zhou B. Du J, et al. Among authors: anover sombke s. Sci Immunol. 2022 Jun 24;7(72):eabo5407. doi: 10.1126/sciimmunol.abo5407. Epub 2022 Jun 24. Sci Immunol. 2022. PMID: 35749515 Free PMC article.
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Gambineri E, Ciullini Mannurita S, Hagin D, Vignoli M, Anover-Sombke S, DeBoer S, Segundo GRS, Allenspach EJ, Favre C, Ochs HD, Torgerson TR. Gambineri E, et al. Among authors: anover sombke s. Front Immunol. 2018 Nov 1;9:2411. doi: 10.3389/fimmu.2018.02411. eCollection 2018. Front Immunol. 2018. PMID: 30443250 Free PMC article.
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, Leppert MF, Getz MM, Seger RA, Hill HR, Belohradsky BH, Torgerson TR, Ochs HD. Renner ED, et al. Among authors: anover sombke s. J Allergy Clin Immunol. 2008 Jul;122(1):181-7. doi: 10.1016/j.jaci.2008.04.037. J Allergy Clin Immunol. 2008. PMID: 18602572 Free PMC article.
Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents.
Gruenberg DA, Añover-Sombke S, Gern JE, Holland SM, Rosenzweig SD, Torgerson TR, Seroogy CM. Gruenberg DA, et al. Among authors: anover sombke s. J Allergy Clin Immunol. 2010 Jan;125(1):264-5. doi: 10.1016/j.jaci.2009.07.061. Epub 2009 Nov 11. J Allergy Clin Immunol. 2010. PMID: 19910038 Free PMC article.
STAT3 mutation in the original patient with Job's syndrome.
Renner ED, Torgerson TR, Rylaarsdam S, Añover-Sombke S, Golob K, LaFlam T, Zhu Q, Ochs HD. Renner ED, et al. Among authors: anover sombke s. N Engl J Med. 2007 Oct 18;357(16):1667-8. doi: 10.1056/NEJMc076367. N Engl J Med. 2007. PMID: 17942886 No abstract available.
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B. Salzer U, et al. Among authors: anover sombke s. Blood. 2009 Feb 26;113(9):1967-76. doi: 10.1182/blood-2008-02-141937. Epub 2008 Nov 3. Blood. 2009. PMID: 18981294 Free PMC article.