ICHAD syndrome

Term ID

DOID:0070796

Synonyms

• ICHAD
• immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay

Definition

An immune system disease characterized by onset of immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay soon after birth or in early infancy that has_material_basis_in heterozygous gain-of-function mutation in the IKZF2 gene on chromosome 2q34. Affected individuals have recurrent, mainly respiratory, infections and may have autoimmune features. https://pubmed.ncbi.nlm.nih.gov/37316189/

References

• MIM:621234
• ORDO:699599
• UMLS_CUI:C6012290

Ontology

Human Disease   ( DOID:0070796 )