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

[Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2011

Yang Xi, Wang Jing, An Yun-fei, Kanegane Hirokazu, Miyawaki Toshio, Zhao Xiao-dong

Abstract excerpt

OBJECTIVE: X-linked lymphoproliferative disease (XLP), a genetic disorder characterized by immunodeficiency to Epstein-Barr virus (EBV) infection, has been linked to mutations in the SH2D1A gene. XLP patient displays EBV associated fulminant infectious mononucleosis or hemophagocytic lymphohistocytosis, hypogammaglobulinemia or malignant lymphoma. Here we report the clinical features, gene mutation and SAP...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to DNA, Viral

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epstein-Barr Virus Infections

Share to Herpesvirus 4, Human

Share to Intracellular Signaling Peptides and Proteins

Share to Lymphoproliferative Disorders

Share to Signaling Lymphocytic Activation Molecule Associated Protein

Source

Identifiers

PMID: 21924052

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

[Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives].PMID 21924052Read ↗

[Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].Semantic proximity Read ↗

[Clinical and gene research of X-linked lymphoproliferative disease in a Chinese family].Semantic proximity Read ↗

Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.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 ↗

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.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 ↗

Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.Semantic proximity Read ↗

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

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

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.Semantic proximity Read ↗

X-linked lymphoproliferative syndromes: brothers or distant cousins?Semantic proximity Read ↗

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