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

Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation.

Pediatric blood & cancer - 1 Dec 2014

Hussein Ayad Ahmed, Hamadah Tuka, Qandeel Monther, Sughayer Maher, Amarin Rula, Mansour Asem, Chiang Samuel C, Al-Zaben Abdulhadi, Meeths Marie, Bryceson Yenan T

Abstract excerpt

Individuals with biallelic truncating PRF1 mutations typically present with fulminant early-onset familial hemophagocytic lymphohistiocytosis (FHL). We report a 19-year-old male with a 5-year history of recurrent fever and headaches progressing to refractory seizures. Brain imaging revealed multiple ring enhancing lesions. Laboratory investigations demonstrated that the patient displayed defective lymphocyte...

Read the complete abstract on PubMed

Topics

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

Share to Antibodies, Monoclonal, Murine-Derived
Share to Antineoplastic Agents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brain Diseases

Share to Combined Modality Therapy

Share to Hematopoietic Stem Cell Transplantation

Share to Lymphohistiocytosis, Hemophagocytic

Share to Perforin

Share to Rituximab

Source

Identifiers

PMID: 25110876
DOI: 10.1002/pbc.25166

Genes

PRF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation.PMID 25110876Read ↗

Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Chinese Infant with PRF1 Homozygous Mutation: a Case Report.Semantic proximity Read ↗

Familial hemophagocytic lymphohistiocytosis in a 6-week-old male infant.Semantic proximity Read ↗

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.Semantic proximity Read ↗

Successful reduced-intensity cord blood transplantation in infants with familial hemophagocytic lymphohistiocytosis type 2.Semantic proximity Read ↗

Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.Semantic proximity Read ↗

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.Semantic proximity Read ↗

Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.Semantic proximity Read ↗

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.Semantic proximity Read ↗

Allogeneic hematopoietic stem cell transplant for familial hemophagocytic lymphohistiocytosis: a case report and literature review.Semantic proximity Read ↗

Case Report: Primary hemophagocytic lymphohistiocytosis with a homozygous PRF1 variant: a case suggesting early immunoporosis and an expanded phenotypic spectrum.Semantic proximity Read ↗

Prognostic Features of Pediatric Primary Hemophagocytic Lymphohistiocytosis With CNS Involvement.Semantic proximity Read ↗

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense MutationsSemantic proximity Read ↗

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