Autosomal recessive agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan
Letter to the Editor
Paediatrics and Child Health
Autosomal Recessive Agammaglobulinemia (ARA) is an uncommon type of primary immunodeficiency characterized by mutations in genes responsible for early B cell differentiation and function. One such gene is the TCF3 gene, which encodes a transcription factor important for immunoglobulin gene expression. We present the case of a 9 year old girl with history of diarrhea and recurrent pneumonias. Laboratory investigation showed significantly reduced levels of immunoglobulins along with a significant fall in the number of CD19+ cells. Genetic analysis identified a TCF3 gene base deletion covering exons 5-11.
Publication ( Name of Journal)
Qamar, F. N.,
Geha, R. S.
(2018). Autosomal recessive agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan. Clinical Immunology, 6616(18), 30415-30417.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/392