immunodeficiency 112

Term ID

DOID:0061079

Synonyms

Definition

A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/29230214/

References

MIM:620449

Ontology

Human Disease ( DOID:0061079 )

Relationships

is a type of: autosomal recessive disease T cell, B cell, and NK cell deficiency

autosomal recessive disease T cell, B cell, and NK cell deficiency Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models