FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 71 ID (Ontology) DOID:0112004 (Human Disease)
Definition A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1.
Also Known As "IMD71" ; "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" ; "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 71       1
 for disease ribbon | immunodeficiency 71       1
 model of | immunodeficiency 71       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__combined immunodeficiency_____|
                                  immunodeficiency 71  1 rec.
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Is a autosomal recessive disease
combined immunodeficiency
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Synonyms
  • "IMD71" EXACT OMO:0003012
    "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" EXACT
    "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT
    "PLTEID" EXACT OMO:0003012
Secondary IDs
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MIM:617718