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

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

European journal of pediatrics - 1 Feb 2020

Xu Tao, Zhao Qin, Li Wenyan, Chen Xuemei, Xue Xiuhong, Chen Zhi, Du Xiao, Bai Xiaoming, Zhao Qian, Zhou Lina, Tang Xuemei, Yang Xi, Kanegane Hirokazu, Zhao Xiaodong

Abstract excerpt

X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency disease that can be divided into two types: SAP deficiency (XLP1) and XIAP deficiency (XLP2), caused by mutations in the SH2D1A and XIAP genes, respectively. Few cases of XLP (particularly XIAP deficiency) have been reported in mainland China; hence, little is known about the characteristics of Chinese patients with XLP. We identified...

Read the complete abstract on PubMed

Topics

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

Share to Cause of Death
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematopoietic Stem Cell Transplantation

Share to Intracellular Signaling Peptides and Proteins

Share to Lymphoproliferative Disorders

Share to Risk Assessment

Share to Signaling Lymphocytic Activation Molecule Associated Protein

Share to Survival Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 31754776
DOI: 10.1007/s00431-019-03512-7
PMCID: PMC6970958

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.PMID 31754776Read ↗

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 syndromes and related autosomal recessive disorders.Semantic proximity Read ↗

SAP and XIAP deficiency in hemophagocytic lymphohistiocytosisSemantic proximity Read ↗

Clinical and genetic characteristics of XIAP deficiency in Japan.Semantic proximity Read ↗

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).Semantic proximity Read ↗

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

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

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

X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti-tumor and humoral immune responses.Semantic proximity Read ↗

Distinct clinical characteristics and outcome caused by a novel deletion mutation in XIAP/BIRC4 gene: a case reportSemantic proximity Read ↗

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

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.Semantic proximity Read ↗

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