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

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

British journal of haematology - 1 Jul 1999

Ting S S, Leigh D, Lindeman R, Ziegler J B

Abstract excerpt

Severe combined immunodeficiency is a heterogenous syndrome of varied genetic origins of which the X-linked type is the commonest (XSCID). The most sensitive method for diagnosis of XSCID in the absence of X-linked inheritance pattern is by mutation analysis. In this report we have performed mutation analysis in 13 unrelated boys transplanted (BMT) for SCID without a known cause to determine the frequency of...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Exons
Share to Hair

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Receptors, Cytokine

Share to Sequence Analysis

Share to Severe Combined Immunodeficiency

Source

Identifiers

PMID: 10444186
DOI: 10.1046/j.1365-2141.1999.01527.x

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots.PMID 10444186Read ↗

X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.Semantic proximity Read ↗

Molecular approaches in the diagnosis of primary immunodeficiency diseases.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 ↗

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.Semantic proximity Read ↗

Molecular basis for X-linked immunodeficiencies.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 ↗

Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency.Semantic proximity Read ↗

B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.Semantic proximity Read ↗

Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.Semantic proximity Read ↗

Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests.Semantic proximity Read ↗

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.Semantic proximity Read ↗

Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.Semantic proximity Read ↗

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