Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan

Publication date: Available online 29 July 2018

Source: Clinical Immunology

Author(s): Sonia Qureshi, Muhammad Dawood Amir Sheikh, Farah Naz Qamar, Wayne Bainter, Janet Chou, Raif S. Geha

Abstract

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.

https://ift.tt/2NOKzYE