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3.
Clin Immunol ; 218: 108525, 2020 09.
Article in English | MEDLINE | ID: mdl-32659374

ABSTRACT

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.


Subject(s)
Adenosine Deaminase/deficiency , Adenosine Deaminase/genetics , Immunologic Deficiency Syndromes/genetics , Immunologic Deficiency Syndromes/immunology , Intercellular Signaling Peptides and Proteins/deficiency , Intercellular Signaling Peptides and Proteins/genetics , Lymphocytes/immunology , Child , Genetic Variation , Humans , Male , Siblings
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