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Article

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

Journal of clinical immunology - 1 May 2018

Stepensky Polina, Keller Baerbel, Shamriz Oded, von Spee-Mayer Caroline, Friedmann David, Shadur Bella, Unger Susanne, Fuchs Sebastian, NaserEddin Adeeb, Rumman Nisreen, Amro Sara, Molho Pessach Vered, Abuzaitoun Omar, Somech Raz, Elpeleg Orly, Ehl Stephan, Warnatz Klaus

Abstract excerpt

PURPOSE: All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664C>T (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of life, despite the presence of nearly normal NK and T cell numbers. Reporting five children of one extended family with hemizygous mutations in IL2RG, we...

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PMID: 29948574
DOI: 10.1007/s10875-018-0514-y

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