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GTR Home > Conditions/Phenotypes > Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease

Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease

Synonyms
IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA

Summary

Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses. Laboratory findings are variable, but usually show thrombocytopenia, sometimes with abnormal platelet morphology, increased serum IgE, IgA, or IgM, leukocytosis, decreased or increased T lymphocytes, and increased eosinophils. Detailed studies show impaired neutrophil and T-cell chemotaxis, as well as impaired T-cell activation due to defects in F-actin (see 102610) polymerization (summary by Brigida et al., 2018). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARC41, IMD71, PLTEID, p40-ARC, p41-ARC, ARPC1B
    Summary: actin related protein 2/3 complex subunit 1B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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