autosomal recessive hyper-IgE syndrome 3 with recurrent infections

Term ID

DOID:0080595

Synonyms

• hyper IgE recurrent infection syndrome 3

Definition

A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. https://www.ncbi.nlm.nih.gov/pubmed/29907690

References

• MIM:618282

Ontology

Human Disease   ( DOID:0080595 )