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

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Frontiers in immunology - 1 Jan 2020

Viñas-Giménez Laura, Padilla Natàlia, Batlle-Masó Laura, Casals Ferran, Rivière Jacques G, Martínez-Gallo Mónica, de la Cruz Xavier, Colobran Roger

Abstract excerpt

Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples from these patients. This is especially true for familial hemophagocytic lymphohistiocytosis (FHL), a life-threatening PID classically considered an autosomal recessive condition, but with...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune and Inflammatory Disorders Research
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Lymphohistiocytosis, Hemophagocytic

Share to Neurogenetic and Muscular Disorders Research

Share to Parvovirus B19 Infection Studies

Source

Open in PubMed Open full text

Identifiers

PMID: 32076423
DOI: 10.3389/fimmu.2020.00107
PMCID: PMC7006814

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.PMID 32076423Read ↗

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.Semantic proximity Read ↗

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

Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.Semantic proximity Read ↗

Genetic background of FHLH in Qatar: Registry data and population studySemantic proximity Read ↗

Genetic background of FHLH in Qatar: Registry data and population studySemantic proximity Read ↗

Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.Semantic proximity Read ↗

Genetics of Familial Hemophagocytic Lymphohistiocytosis (HLH).Semantic proximity Read ↗

Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.Semantic proximity Read ↗

Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic LymphohistiocytosisSemantic proximity Read ↗

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

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.Semantic proximity Read ↗

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