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

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.

Journal of clinical immunology - 1 Jan 2020

Ben-Ali Meriem, Kechout Nadia, Mekki Najla, Yang Jing, Chan Koon Wing, Barakat Abdelhamid, Aadam Zahra, Gamara Jouda, Gargouri Lamia, Largueche Beya, BelHadj-Hmida Nabil, Nedri Amel, Ameur Houcine Ben, Mellouli Fethi, Boukari Rachida, Bejaoui Mohamed, Bousfiha Aziz, Ben-Mustapha Imen, Lau Yu-Lung, Barbouche Mohamed-Ridha

Abstract excerpt

Autosomal recessive agammaglobulinemia (ARA) is a primary immunodeficiency characterized by absent peripheral B cells, severe hypogammaglobulinemia, and absent BTK gene mutations. In ARA, mutations occur in genes encoding the pre-B cell receptor (pre-BCR) or downstream signaling proteins. In this work, we used candidate gene and whole-exome sequencing to investigate the molecular basis of ARA in 6 patients from 4...

Read the complete abstract on PubMed

Topics

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

Share to Agammaglobulinemia
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Exome Sequencing

Share to Homozygote

Share to Infant, Newborn

Share to North America

Source

Identifiers

PMID: 31696364
DOI: 10.1007/s10875-019-00706-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.PMID 31696364Read ↗

Agammaglobulinemia: causative mutations and their implications for novel therapies.Semantic proximity Read ↗

Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case reportSemantic proximity Read ↗

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.Semantic proximity Read ↗

B Cells and COVID-19: Lessons From Patients With Agammaglobulinemia and the Study of Functional B-Cell Polymorphisms.Semantic proximity Read ↗

Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.Semantic proximity Read ↗

Autosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype.Semantic proximity Read ↗

Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta.Semantic proximity Read ↗

Whole Genome Sequencing identifies novel structural variant in a large Indian family affected with X - linked agammaglobulinemiaSemantic proximity Read ↗

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).Semantic proximity Read ↗

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.Semantic proximity Read ↗

Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia.Semantic proximity Read ↗

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in MalaysiaSemantic proximity Read ↗

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