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Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.
Keller B, Kfir-Erenfeld S, Matusewicz P, Hartl F, Lev A, Lee YN, Simon AJ, Stauber T, Elpeleg O, Somech R, Stepensky P, Minguet S, Schraven B, Warnatz K. Keller B, et al. Among authors: stepensky p. J Clin Immunol. 2023 Dec 19;44(1):4. doi: 10.1007/s10875-023-01614-4. J Clin Immunol. 2023. PMID: 38112969 Free PMC article.
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, Saleh H, Simanovsky N, Kogot-Levin A, Weintraub M, Ganaiem H, Shaag A, Zenvirt S, Borkhardt A, Elpeleg O, Bryant NJ, Mevorach D. Stepensky P, et al. Blood. 2013 Jun 20;121(25):5078-87. doi: 10.1182/blood-2012-12-475566. Epub 2013 Apr 18. Blood. 2013. PMID: 23599270 Free article.
174 results