Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia D81.9

Immunodeficiency 71 with inflammatory manifestations and congenital thrombocytopenia and combined T- and B-cell immunodeficiency (IMD71) is an autosomal recessive inherited immune disorder characterized by the presence of recurrent bacterial and viral infections and inflammatory manifestations such as vasculitis, bronchial asthma, eczema in infancy or early childhood.

Laboratory findings vary but usually show thrombocytopenia, sometimes with abnormal platelet morphology; elevated serum IgE, IgA, or IgM; leukocytosis; decreased or increased T lymphocytes; and increased eosinophils.

Detailed studies show impaired neutrophil and T-cell chemotaxis and impaired T-cell activation due to defects in polymerization of F-actin.

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