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

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).

Blood - 21 Jun 2012

Pagel Julia, Beutel Karin, Lehmberg Kai, Koch Florian, Maul-Pavicic Andrea, Rohlfs Anna-Katharina, Al-Jefri Abdullah, Beier Rita, Bomme Ousager Lilian, Ehlert Karoline, Gross-Wieltsch Ute, Jorch Norbert, Kremens Bernhard, Pekrun Arnulf, Sparber-Sauer Monika, Mejstrikova Ester, Wawer Angela, Ehl Stephan, zur Stadt Udo, Janka Gritta

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically determined hyperinflammatory syndrome caused by uncontrolled immune response mediated by T-lymphocytes, natural killer (NK) cells, and macrophages. STXBP2 mutations have recently been associated with FHL5. To better characterize the genetic and clinical spectrum of FHL5, we analyzed a cohort of 185 patients with suspected FHL for mutations in...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Epistasis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Infant, Newborn

Share to Lymphohistiocytosis, Hemophagocytic

Share to Models, Biological

Share to Munc18 Proteins

Share to Qa-SNARE Proteins

Source

Identifiers

PMID: 22451424
DOI: 10.1182/blood-2011-12-398958

Genes

FHL5
STXBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).PMID 22451424Read ↗

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

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.Semantic proximity Read ↗

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.Semantic proximity Read ↗

A Case of Fetal Familial Hemophagocytic Lymphohistiocytosis Type 5 caused by STXBP2 Gene Mutation.Semantic proximity Read ↗

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.Semantic proximity Read ↗

Familial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2.Semantic proximity Read ↗

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

Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.Semantic proximity Read ↗

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

Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.Semantic proximity Read ↗

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

Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.Semantic proximity Read ↗

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