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

Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.

Journal of clinical immunology - 1 Sept 2008

Ohm-Laursen Line, Nielsen Christian, Fisker Niels, Lillevang Søren Thue, Barington Torben

Abstract excerpt

INTRODUCTION: A 2.5-month old boy presented with recurrent wheezing, protracted diarrhea, erythrodermia, and failure to thrive. METHODS AND RESULTS: Laboratory analysis showed lymphocytopenia with severely reduced T-cell numbers but normal numbers of B and NK cells. Serum IgE was increased and the patient had eosinophilia. These presentations are consistent with atypical severe combined immunodeficiency...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 14
Share to Gene Rearrangement, B-Lymphocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoglobulin E

Share to Lymphopenia

Share to Receptors, Antigen, B-Cell

Share to Receptors, Antigen, T-Cell, alpha-beta

Share to Respiratory Sounds

Share to Severe Combined Immunodeficiency

Source

Identifiers

PMID: 18592361
DOI: 10.1007/s10875-008-9210-7

Genes

RAG1

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

Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.PMID 18592361Read ↗

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.Semantic proximity Read ↗

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.Semantic proximity Read ↗

Omenn syndrome: a disorder of Rag1 and Rag2 genes.Semantic proximity Read ↗

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.Semantic proximity Read ↗

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.Semantic proximity Read ↗

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.Semantic proximity Read ↗

Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.Semantic proximity Read ↗

RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.Semantic proximity Read ↗

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.Semantic proximity Read ↗

RAG Deficiency: Two Genes, Many Diseases.Semantic proximity Read ↗

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Semantic proximity Read ↗

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.Semantic proximity Read ↗

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