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

Sonia Qureshi; Muhammad Dawood Amir Sheikh; Farah Naz Qamar

doi:10.1016/j.clim.2018.07.016

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 journal › Letter › peer-review

18 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 language	English
Pages (from-to)	100-101
Number of pages	2
Journal	Clinical Immunology
Volume	198
DOIs	https://doi.org/10.1016/j.clim.2018.07.016
Publication status	Published - Jan 2019

Keywords

Autosomal Recessive Agammaglobulinemia
Primary immunodeficiency
TCF3 gene

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.clim.2018.07.016

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title = "Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan",

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.",

keywords = "Autosomal Recessive Agammaglobulinemia, Primary immunodeficiency, TCF3 gene",

author = "Sonia Qureshi and Sheikh, {Muhammad Dawood Amir} and Qamar, {Farah Naz}",

note = "Publisher Copyright: {\textcopyright} 2018 Elsevier Inc.",

year = "2019",

month = jan,

doi = "10.1016/j.clim.2018.07.016",

language = "English",

volume = "198",

pages = "100--101",

journal = "Clinical Immunology",

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TY - JOUR

T1 - Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan

AU - Qureshi, Sonia

AU - Sheikh, Muhammad Dawood Amir

AU - Qamar, Farah Naz

PY - 2019/1

Y1 - 2019/1

N2 - 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.

AB - 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.

KW - Autosomal Recessive Agammaglobulinemia

KW - Primary immunodeficiency

KW - TCF3 gene

UR - http://www.scopus.com/inward/record.url?scp=85060765879&partnerID=8YFLogxK

U2 - 10.1016/j.clim.2018.07.016

DO - 10.1016/j.clim.2018.07.016

M3 - Letter

C2 - 30063982

AN - SCOPUS:85060765879

SN - 1521-6616

VL - 198

SP - 100

EP - 101

JO - Clinical Immunology

JF - Clinical Immunology

ER -

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

Abstract

Keywords

UN SDGs

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