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Article

Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).

British journal of haematology - 1 Jun 1998

Wengler G S, Giliani S, Fiorini M, Mella P, Mantuano E, Zanola A, Pollonini G, Eibl M M, Ugazio A G, Notarangelo L D, Parolini O

Abstract excerpt

X-linked severe combined immunodeficiency (SCIDX1) is an inherited disease characterized by profound abnormalities of cell-mediated and humoral immunity. Patients with SCIDX1 have defects in the common cytokine receptor gamma chain gene (IL2RG) that encodes a shared, essential component of the receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9 and IL-15. We have characterized nine SCIDX1 families by using a...

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Identifiers

PMID: 9633906
DOI: 10.1046/j.1365-2141.1998.00721.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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