Name: Combined immunodeficiency 35 | Acronym: CID35
Alt. names: ITPKB deficiency

Gene: ITPKB | MOI: Autosomal recessive | Mechanism of action: Loss of Function

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

Last updated on: 2023-07-13 13:45:51 by Andrés Caballero-Oteyza

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ClinGen:

Only 1 case has been described in the literature with this condition (PMID:31987846). The Egyptian girl - born to consanguineous parents - presented with persistent thrush shortly after birth, recurrent bacterial and fungal infections, recurrent pneumonias and Klebsiella pneumoniae skin abscesses in infancy, leukopenia, anemia, thrombocytopenia and failure to thrive. Immune phenotyping revealed very few T cells, normal levels of B cells and NK cells, and normal IgM and IgA, but reduced IgG. Her mother, father, and brother had no history of recurrent infections and normal quantitative lymphocyte subsets.

Description of management option has not been reviewed yet.