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

Sonia Qureshi, Muhammad Dawood Amir Sheikh, Farah Naz Qamar

Research output: Contribution to journalLetterpeer-review

17 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)100-101
Number of pages2
JournalClinical Immunology
Volume198
DOIs
Publication statusPublished - Jan 2019

Keywords

  • Autosomal Recessive Agammaglobulinemia
  • Primary immunodeficiency
  • TCF3 gene

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