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

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.

Journal of clinical immunology - 1 Jan 2015

Tóth B, Soltész B, Gyimesi E, Csorba G, Veres Á, Lányi Á, Kovács G, Maródi L, Erdős M

Abstract excerpt

We describe here a novel c.137 + 5G > A intronic mutation in the SH2D1A gene of the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP) in association with Epstein-Barr virus (EBV)-induced fatal infectious mononucleosis (FIM) in an 8-year-old male patient and his 3-year-old step brother. The mother and the maternal grandmother of the boys are healthy and heterozygous for this sequence...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Complementary
Share to Epstein-Barr Virus Infections

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Introns

Share to Lymphoproliferative Disorders

Share to Pedigree

Share to Sequence Deletion

Share to Signaling Lymphocytic Activation Molecule Associated Protein

Source

Identifiers

PMID: 25491288
DOI: 10.1007/s10875-014-0117-1

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.PMID 25491288Read ↗

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.Semantic proximity Read ↗

X-linked lymphoproliferative disease type 1: a clinical and genetic updateSemantic proximity Read ↗

X-linked lymphoproliferative syndromes and related autosomal recessive disorders.Semantic proximity Read ↗

XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP.Semantic proximity Read ↗

X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein.Semantic proximity Read ↗

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective.Semantic proximity Read ↗

Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.Semantic proximity Read ↗

Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein.Semantic proximity Read ↗

Absence of SLAM mutations in EBV-associated lymphoproliferative disease patients.Semantic proximity Read ↗

Pathogenesis and diagnosis of X-linked lymphoproliferative disease.Semantic proximity Read ↗

SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses.Semantic proximity Read ↗

Potential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report.Semantic proximity Read ↗

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