immunodeficiency 71

Term ID

DOID:0112004

Synonyms

• IMD71
• immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
• platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
• PLTEID

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. https://pubmed.ncbi.nlm.nih.gov/30254128/

References

• OMIM:617718

Ontology

Human Disease   ( DOID:0112004 )