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

Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.

Clinical and experimental immunology - 1 Sept 2002

Ursini M V, Gaetaniello L, Ambrosio R, Matrecano E, Apicella A J, Salerno M C, Pignata C

Abstract excerpt

Severe combined immunodeficiency (SCID) is a heterogeneous group of disorders characterized by defect of T- and B-cell immunity. In many cases of autosomal recessive SCID, thus far described, the molecular alteration involves genes encoding for molecules that participate in the signal transduction. We report on a patient affected by a combined immunodeficiency, characterized by severe T-cell functional...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Differentiation, T-Lymphocyte
Share to Human Growth Hormone

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

Share to Interleukin Receptor Common gamma Subunit

Share to Milk Proteins

Share to Receptors, Interleukin-7

Share to Receptors, Somatotropin

Share to Severe Combined Immunodeficiency

Share to STAT5 Transcription Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 12197892
DOI: 10.1046/j.1365-2249.2002.01823.x
PMCID: PMC1906458

Genes

GHR
JAK2

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

Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.PMID 12197892Read ↗

A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.Semantic proximity Read ↗

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.Semantic proximity Read ↗

Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene.Semantic proximity Read ↗

Genetics of SCID.Semantic proximity Read ↗

X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update.Semantic proximity Read ↗

Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency.Semantic proximity Read ↗

Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.Semantic proximity Read ↗

A novel mutant gammac chain from a patient with typical phenotype of X-linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL-2 and IL-4 receptor action.Semantic proximity Read ↗

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.Semantic proximity Read ↗

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.Semantic proximity Read ↗

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.Semantic proximity Read ↗

Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.Semantic proximity Read ↗

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