immunodeficiency 82

Term ID

DOID:0061053

Synonyms

• immunodeficiency 82 with systemic inflammation

Definition

A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. https://pubmed.ncbi.nlm.nih.gov/33782605/

References

• MIM:619381

Ontology

Human Disease   ( DOID:0061053 )