immunodeficiency 90

Term ID

DOID:0061060

Synonyms

• immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction

Definition

A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/32350755/

References

• MIM:613759

Ontology

Human Disease   ( DOID:0061060 )