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Comèl-Netherton syndrome defined as primary immunodeficiency.
Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD. Renner ED, et al. J Allergy Clin Immunol. 2009 Sep;124(3):536-43. doi: 10.1016/j.jaci.2009.06.009. Epub 2009 Aug 14. J Allergy Clin Immunol. 2009. PMID: 19683336 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. 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. 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.
Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Burroughs LM, Torgerson TR, Storb R, Carpenter PA, Rawlings DJ, Sanders J, Scharenberg AM, Skoda-Smith S, Englund J, Ochs HD, Woolfrey AE. Burroughs LM, et al. J Allergy Clin Immunol. 2010 Nov;126(5):1000-5. doi: 10.1016/j.jaci.2010.05.021. J Allergy Clin Immunol. 2010. PMID: 20643476 Free PMC article.