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

Immunological and molecular study in children with combined immunodeficiency.

European annals of allergy and clinical immunology - 1 Jul 2024

Kholoussi S, Ramadan A, Kholoussi N, Ashaat E A, Fayez A G, Raouf H A, Helwa I, Esmaiel N N, Ghorab R, Abo-Shanab A M

Abstract excerpt

Summary: Background. Severe combined immunodeficiency (SCID) is a form of immunodeﬁciencies (PID), caused by molecular defects. These defects can restrict the development and function of lymphocytes. Early diagnosis and treatment of SCID can lead to disease-free survival. This study aims to investigate some of the possible underlying genetic defects in a group of Egyptian infants and children with clinical and...

Read the complete abstract on PubMed

Topics

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

Share to B-Lymphocytes
Share to Egypt

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Immunoglobulins

Share to Immunophenotyping

Share to Killer Cells, Natural

Share to Nuclear Proteins

Share to Severe Combined Immunodeficiency

Source

Identifiers

PMID: 36786340
DOI: 10.23822/EurAnnACI.1764-1489.286

Genes

RAG1
RAG2

Variants

rs10836573
rs10836573
rs10836573
rs10836573
rs10836573
rs10836573
rs10836573
rs10836573

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Immunological and molecular study in children with combined immunodeficiency.PMID 36786340Read ↗

Clinical, Immunological and Molecular Findings of Patients with Severe Combined Immunodeficiency: Introducing of 7 Novel Mutations in 7 GenesSemantic proximity Read ↗

Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.Semantic proximity Read ↗

Severe combined immunodeficiences: new and old scenarios.Semantic proximity Read ↗

A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.Semantic proximity Read ↗

Mutational landscape of severe combined immunodeficiency patients from Turkey.Semantic proximity Read ↗

Retrospective analysis of patients with severe combined immune deficiency: A 20-year Single center experienceSemantic proximity Read ↗

Genetics of severe combined immunodeficiencySemantic proximity Read ↗

Severe combined immunodeficiency diagnosis and genetic defects.Semantic proximity Read ↗

Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.Semantic proximity Read ↗

Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.Semantic proximity Read ↗

Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.Semantic proximity Read ↗

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.Semantic proximity Read ↗

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