" /> Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia - CISMeF





Preferred Label : Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia;

Symbol : IMD71;

CISMeF acronym : PLTEID; IMD71;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PLTEID; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the actin-related protein 2/3 complex, subunit 1B gene (ARPC1B, 604223.0001);

Prefixed ID : #617718;

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08/07/2025


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