Novel TRAC variant causing autosomal recessive TCR-alpha/beta deficient immunodeficiency 7.
Saima Mehmood, Saba Siddiqui, Madia Kazmi et al.
✦ AI-curated · Sources linked
Case in brief
Monozygotic twin brothers presented in early infancy with severe, recurrent diarrhoea and profound T-cell lymphopenia. Immunological assessment revealed significantly reduced immunoglobulins and very low CD3+, CD4+, and CD8+ T cell subsets. Genetic testing identified a novel homozygous TRAC frameshift mutation, leading to complete loss of protein expression and a more severe phenotype than previously reported TRAC variants.
What made this case unusual
The twins exhibited a clinical picture resembling very-early-onset inflammatory bowel disease, expanding the phenotypic spectrum of TRAC deficiency.
Diagnostic / clinical pearl
Clinicians should consider T-cell defects in infants with severe gastrointestinal symptoms and perform genetic testing to identify underlying immunodeficiencies.
Why it matters
This case highlights the importance of early recognition and diagnosis of rare primary immunodeficiency disorders, especially in populations with high consanguinity.