Name: Immunodeficiency, common variable, 22 | Acronym: CVID22
Alt. names: ITPKB haploinsufficiency

Gene: ITPKB | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency

No. of cases in DB: 0 | First reported in: 2016

Last updated on: 2023-07-13 13:38:11 by Andrés Caballero-Oteyza

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ClinGen:

Only 1 case has been described in the literature with CVID and a chromosomic microdeletion (1q42.1-q42.3) including the gene ITPKB in one allele, and a synonymous variant on the second allele, which was presumed to possibly alter splicing because ITPKB expression was markedly reduced (PMID:26900472). The patient was a 26yo Caucasian man with recurrent S. aureus skin infections requiring multiple courses of antibiotics and incision and drainage for several deep skin abscesses. He also had a history of recurrent childhood ear infections, allergic rhinitis, eczema, schizophrenia, dystonia, seizure disorder and developmental delay. Labs were notable for reduced CD8+ T cells, CD19+ B cells, and NK cells along with poor lymphoproliferative responses and low IgG levels.

Description of management option has not been reviewed yet.