immunodeficiency 33

Term ID

DOID:0112003

Synonyms

• IMD33
• X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
• X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
• X-linked MSMD due to IKBKG deficiency
• X-linked MSMD due to NEMO deficiency

Definition

A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. (2)

References

• MESH:C567070
• MIM:300636

Ontology

Human Disease   ( DOID:0112003 )