Name: Immunodeficiency 116 | Acronym: IMD116
Alt. names: CD8 deficiency, familial

Gene: CD8A | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2001

Last updated on: 2024-01-12 10:14:44 by

OMIM: 608957

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Immunologic disorder characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood. Laboratory studies show absence of CD8+ T cells, whereas other lymphocyte numbers and immunoglobulin levels are normal (Dumontet et al., 2015).

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Asymptomatic individuals have been described. Refs. PMIDs: 11435463; 17658607