immunodeficiency 131

Term ID

DOID:0061125

Synonyms

Definition

A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25. https://pubmed.ncbi.nlm.nih.gov/36917008/

References

MIM:621097

Ontology

Human Disease ( DOID:0061125 )

Relationships

is a type of: autosomal dominant disease lung disease primary immunodeficiency disease

autosomal dominant disease lung disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models