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

[The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Jul 2016

Zhang J, Wang Y N, Wang J S, Wu L, Wei N, Fu L, Gao Z, Chen J H, Pei R J, Wang Z

Abstract excerpt

OBJECTIVE: To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH). METHODS: Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Lymphohistiocytosis, Hemophagocytic

Share to Membrane Proteins

Share to Mutation, Missense

Share to Perforin

Share to Signaling Lymphocytic Activation Molecule Associated Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 27535855
DOI: 10.3760/cma.j.issn.0253-2727.2016.07.005
PMCID: PMC7365012

Genes

PRF1

Variants

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

[The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis].PMID 27535855Read ↗

Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from ChinaSemantic proximity Read ↗

Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.Semantic proximity Read ↗

[Association between genotype and clinical phenotype in children with primary hemophagocytic lymphohistiocytosis].Semantic proximity Read ↗

[Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis].Semantic proximity Read ↗

[Expression of porforin and granzyme B in familial hemophagocytic lymphohistiocytosis].Semantic proximity Read ↗

The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.Semantic proximity Read ↗

Molecular genetics of primary hemophagocytic lymphohistiocytosis among Polish patientsSemantic proximity Read ↗

[Association between gene polymorphisms of Perforin 1 and hemophagocytic lymphohistiocytosis].Semantic proximity Read ↗

Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico.Semantic proximity Read ↗

[Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in Chinese children: a primary study on clinical characteristics and gene mutations].Semantic proximity Read ↗

Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study.Semantic proximity Read ↗

Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.Semantic proximity Read ↗

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