immunodeficiency 72

Term ID

DOID:0112015

Synonyms

• immunodeficiency 72 with autoinflammation

Definition

A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. https://pubmed.ncbi.nlm.nih.gov/32647003/

References

• OMIM:618982

Ontology

Human Disease   ( DOID:0112015 )