Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.

ABSTRACT: Biallelic null or hypomorphic variants in JAK3 cause SCID and less frequently Omenn syndrome. We investigated homozygous hypomorphic JAK3 mutations in two patients, and expression and function of a novel JAK3^R431P variant in Omenn syndrome. Immunophenotyping of PBMC from the patient with the novel JAK3^R431P variant was undertaken, by flow cytometry and Phosflow after stimulation with IL-2, IL-7, and IL-15. JAK3 expression was investigated by Western blotting. We report two patients with homozygous hypomorphic JAK3 variants and clinical features of Omenn syndrome. One patient had a previously described JAK3^R775H variant, and the second had a novel JAK3^R431P variant. One patient with a novel JAK3^R431P variant had normal expression of JAK

SUBMITTER: Tsilifis C 

PROVIDER: S-EPMC11006754 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature