Name: Chronic lymphoproliferative disorder of NK-cells 2 | Acronym: CLPD-NK2
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Gene: JAK3 | MOI: Autosomal dominant | Mechanism of action: Gain of Function

No. of cases in DB: 0 | First reported in: 2020

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

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Description

There is one study in the literature reporting this condition (https://doi.org/10.1182/blood-2020-142078). The authors reported 2 subjects (mother and son), who presented at ages 35 and 12 years old with NK cell lymphoproliferation, lymphadenopathy, splenomegaly and autoimmunity. The mother had history of vasculitis while the son was diagnosed with CVID, recurrent multilineage autoimmune cytopenia and subsequently developed psoriasis at 18 years old. Immunophenotyping of the son revealed hypogammaglobulinemia with normal vaccine response, expanded aberrant NK cells, decreased FOXP3 expression in Tregs and B cell subsets showing decreased total and isotype-switched memory B cells. Marrow studies revealed normal karyotype, cellularity and maturation but prominent large granular lymphocytes with benign cytology. Other studies, have also reported GOF mutations in JAK3 in subjects diagnosed with CVID (PMID:29375547). See also studies PMID: 22705984, 23689514

Management

Description of management option has not been reviewed yet.