X-linked hyper IgM syndrome

Term ID

DOID:6620

Synonyms

• HIGM1
• hyper-IgM immunodeficiency syndrome type 1
• hyper-IgM syndrome 1
• hyper-IgM syndrome type 1
• hyperimmunoglobulin M syndrome
• immunodeficiency with hyper-IgM type 1
• X-linked hyper-IgM immunodeficiency
• XHIM

Definition

A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome

References

• GARD:73
• MESH:D053307
• MIM:308230
• NCI:C158531
• ORDO:101088
• SNOMEDCT_US_2023_03_01:403835002
• UMLS_CUI:C0398689

Ontology

Human Disease   ( DOID:6620 )