Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Clinical immunology (Orlando, Fla.) - 1 Jan 2019

Qureshi Sonia, Sheikh Muhammad Dawood Amir, Qamar Farah Naz

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agammaglobulinemia
Share to Basic Helix-Loop-Helix Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 30063982
DOI: 10.1016/j.clim.2018.07.016

Genes

TCF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan.PMID 30063982Read ↗

TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia.Semantic proximity Read ↗

Autosomal dominant TCF3 deficiency with absent B cells and a unique immunoglobulin profile.Semantic proximity Read ↗

Novel STAT3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotypeSemantic proximity Read ↗

A novel mutation in DNMT3B gene causing ICF1 syndrome in an infant with refractory thrombocytopenia.Semantic proximity Read ↗

A case of selective IgG subclass deficiency with STAT3 mutation.Semantic proximity Read ↗

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.Semantic proximity Read ↗

A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.Semantic proximity Read ↗

A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family.Semantic proximity Read ↗

X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan.Semantic proximity Read ↗

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency DisordersSemantic proximity Read ↗

Novel mutations in a Japanese patient with CD19 deficiency.Semantic proximity Read ↗

Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.