期刊
CLINICAL IMMUNOLOGY
卷 218, 期 -, 页码 -出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2020.108525
关键词
ADA2 deficiency; DADA2; Lymphoproliferation; Large granular lymphocytes; T-cell repertoire; Hypogammaglobulinemia; Lymphopenia
类别
The presence of large granular lymphocytes has been reported in patients with ADA2 deficiency and T-LGL leukemia. Here we describe two siblings with novel ADA2 variants, expanding the mutational spectrum of ADA2 deficiency. We show that lymphoproliferation, persistence of large granular lymphocytes, T-cell perturbations, and activation of PI3K pathway, measured by means of phosphorylation levels of S6, are detectable in DADA2 patients without T-LGL leukemia.
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