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 risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Blood - 11 Apr 2013

Jessen Birthe, Bode Sebastian F N, Ammann Sandra, Chakravorty Subarna, Davies Graham, Diestelhorst Jana, Frei-Jones Melissa, Gahl William A, Gochuico Bernadette R, Griese Matthias, Griffiths Gillian, Janka Gritta, Klein Christoph, Kögl Tamara, Kurnik Karin, Lehmberg Kai, Maul-Pavicic Andrea, Mumford Andrew D, Pace David, Parvaneh Nima, Rezaei Nima, de Saint Basile Geneviève, Schmitt-Graeff Annette, Schwarz Klaus, Karasu Gulsun T, Zieger Barbara, Zur Stadt Udo, Aichele Peter, Ehl Stephan

Abstract excerpt

Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient also carri...

Read the complete abstract on PubMed

Topics

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

Share to Cytotoxicity, Immunologic
Share to Flow Cytometry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hermanski-Pudlak Syndrome

Share to Lymphohistiocytosis, Hemophagocytic

Share to Mice, Knockout

Share to rab GTP-Binding Proteins

Share to rab27 GTP-Binding Proteins

Share to T-Lymphocytes, Cytotoxic

Source

Open in PubMed Open full text

Identifiers

PMID: 23403622
DOI: 10.1182/blood-2012-10-463166
PMCID: PMC3624940

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23403622-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.PMID 23403622Read ↗

Graded Defects in Cytotoxicity Determine Severity of Hemophagocytic Lymphohistiocytosis in Humans and MiceSemantic proximity Read ↗

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice.Semantic proximity Read ↗

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome.Semantic proximity Read ↗

Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.Semantic proximity Read ↗

Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.Semantic proximity Read ↗

Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity.Semantic proximity Read ↗

Inherited defects in lymphocyte cytotoxic activity.Semantic proximity Read ↗

An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorderSemantic proximity Read ↗

Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicitySemantic proximity Read ↗

Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.Semantic proximity Read ↗

Perforin and lymphohistiocytic proliferative disorders.Semantic proximity Read ↗

Cytotoxic granule secretion by lymphocytes and its link to immune homeostasisSemantic proximity Read ↗

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