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

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

Proceedings of the National Academy of Sciences of the United States of America - 26 Jun 2012

Roberts Joseph L, Buckley Rebecca H, Luo Biao, Pei Jianming, Lapidus Alla, Peri Suraj, Wei Qiong, Shin Jinwook, Parrott Roberta E, Dunbrack Roland L, Testa Joseph R, Zhong Xiao-Ping, Wiest David L

Abstract excerpt

Analysis of the molecular etiologies of SCID has led to important insights into the control of immune cell development. Most cases of SCID result from either X-linked or autosomal recessive inheritance of mutations in a known causative gene. However, in some cases, the molecular etiology remains...

Read the complete abstract on PubMed

Topics

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

Share to Heterozygote
Share to Immunodeficiency and Autoimmune Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocyte Common Antigens

Share to Loss of Heterozygosity

Share to Neurogenetic and Muscular Disorders Research

Share to Polymorphism, Single Nucleotide

Share to Severe Combined Immunodeficiency

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 22689986
DOI: 10.1073/pnas.1202249109
PMCID: PMC3387083

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22689986-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.PMID 22689986Read ↗

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.Semantic proximity Read ↗

The multiple causes of human SCID.Semantic proximity Read ↗

Mutation Analysis of Three Infantile Cases of X-linked Severe Combined Immunodeficiency.Semantic proximity Read ↗

Fine mapping of the human SCIDX1 locus at Xq12-13.1.Semantic proximity Read ↗

Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.Semantic proximity Read ↗

In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.Semantic proximity Read ↗

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.Semantic proximity Read ↗

Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).Semantic proximity Read ↗

Potential targets for autosomal SCID mutations.Semantic proximity Read ↗

The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1Semantic proximity Read ↗

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)Semantic proximity Read ↗

Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots.Semantic proximity Read ↗

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