Term Name:	immunodeficiency 133
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.
Ontology:	Human Disease [DOID:0061096]   ( DOID:0061096 )