Ontology highlight
ABSTRACT:
SUBMITTER: Tsilifis C
PROVIDER: S-EPMC11006754 | biostudies-literature | 2024 Apr
REPOSITORIES: biostudies-literature
Tsilifis Christo C Spegarova Jarmila Stremenova JS Good Ross R Griffin Helen H Engelhardt Karin R KR Graham Sophie S Hughes Stephen S Arkwright Peter D PD Hambleton Sophie S Gennery Andrew R AR
Journal of clinical immunology 20240410 4
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<sup>R431P</sup> variant in Omenn syndrome. Immunophenotyping of PBMC from the patient with the novel JAK3<sup>R431P</sup> 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 ...[more]