has material basis in germline mutation in ARPC1B inherited bleeding disorder, platelet-type immunodeficiency disease platelet abnormalities with eosinophilia and immune-mediated inflammatory disease https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/immunodeficiency_71_with_inflammatory_disease_and_congenital_thrombocytopenia PLTEID A multisytem disorder caused by a variation in the ARPC1B gene, characterized by recurrent bacterial and viral infections beginning in infancy or early childhood, accompanied by inflammatory manifestations such as vasculitis, eczema, colitis, hepatosplenomegaly, and systemic autoinflammation. Affected individuals show congenital thrombocytopenia with variable platelet abnormalities including small, misshapen platelets and dense‑granule defect, and additional laboratory findings such as eosinophilia and elevated IgE or IgA. Functional studies demonstrate defects in neutrophil and T‑cell chemotaxis and impaired T‑cell activation caused by abnormal F‑actin polymerization, consistent with loss of ARPC1B function. immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MEDGEN:1618052 ARPC1B-related platelet disorder with immune-mediated inflammatory disease platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 OMIM:617718 MONDO:0060583 UMLS:C4540232 inherited thrombocytopenia