immunodeficiency 133

Term ID

DOID:0061096

Synonyms

• immunodeficiency 133 with autoimmunity and autoinflammation

Definition

A primary immunodeficiency disease that is characterized recurrent infections and features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages. https://pubmed.ncbi.nlm.nih.gov/37349293/

References

• MIM:620565

Ontology

Human Disease   ( DOID:0061096 )