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A human case of GIMAP6 deficiency: a novel primary immune deficiency.
Shadur B, Asherie N, Kfir-Erenfeld S, Dubnikov T, NaserEddin A, Schejter YD, Elpeleg O, Mor-Shaked H, Stepensky P. Shadur B, et al. Among authors: nasereddin a. Eur J Hum Genet. 2021 Apr;29(4):657-662. doi: 10.1038/s41431-020-00773-x. Epub 2020 Dec 16. Eur J Hum Genet. 2021. PMID: 33328581 Free PMC article.
Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.
NaserEddin A, Shamriz O, Keller B, Alzyoud RM, Unger S, Fisch P, Prus E, Berkun Y, Averbuch D, Shaag A, Wahadneh AM, Conley ME, Warnatz K, Elpeleg O, Stepensky P. NaserEddin A, et al. J Clin Immunol. 2015 May;35(4):356-60. doi: 10.1007/s10875-015-0164-2. Epub 2015 Apr 17. J Clin Immunol. 2015. PMID: 25893637
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
Stepensky P, Chacón-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Méndez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sánchez-Puig N, Elpeleg O. Stepensky P, et al. J Med Genet. 2017 Aug;54(8):558-566. doi: 10.1136/jmedgenet-2016-104366. Epub 2017 Mar 22. J Med Genet. 2017. PMID: 28331068
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.
Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K. Stepensky P, et al. Among authors: nasereddin a. J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9. J Clin Immunol. 2018. PMID: 29948574
141 results