hyper IgE recurrent infection syndrome 2

Term ID

DOID:0080594

Synonyms

• autosomal recessive hyper-IgE syndrome 2 with recurrent infections

Definition

A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. (2)

References

• GARD:2816
• MIM:243700
• ORDO:217390

Ontology

Human Disease   ( DOID:0080594 )