| Metadata | |
|---|---|
| ID | DOID:0061096 |
| Name | immunodeficiency 133 |
| 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/ |
| Xrefs | |
| Synonyms |
immunodeficiency 133 with autoimmunity and autoinflammation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |