Associated Papers
Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.
Gaebler C et al.
Nature, 2026
Familial hemophagocytic lymphohistiocytosis type 2 mimicking CLIPPERS syndrome.
Lago-Gancedo H et al.
Medicina Clinica, 2026
Adult Onset of Type 2 Familial Hemophagocytic Lymphohistiocytosis After SARS-CoV-2 Vaccination with an Unusual Neurological Onset: The Great Mimic.
Bellisario F et al.
Diagnostics (basel, Switzerland), 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis.
Brik Simon D et al.
Genes, 2025
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
Late-onset hemophagocytic lymphohistiocytosis associated with monoallelic STX11 mutation in an adult: a case report and rationale for early allogeneic hematopoietic cell transplantation.
Zaucha JM et al.
Annals of Hematology, 2025
Molecular dynamics simulations of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients.
Narayan AB et al.
International Journal of Biological Macromolecules, 2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
Severe Aplastic Anemia Complicated with Fatal Invasive Fungal Infections in a Young Patient Harboring Perforin Gene Polymorphisms.
Krithinaki MI et al.
Hematology Reports, 2025
Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.
Bravo-Perez C et al.
The Journal of Clinical Investigation, 2025
No Association Between HLH-associated Gene Variants and Life-Threatening COVID-19.
Covill LE et al.
Journal of Clinical Immunology, 2025
A Challenging Diagnosis of Hemophagocytic Lymphohistiocytosis with Unusual Pulmonary Manifestations: A Case Report.
Carducci C et al.
The Open Respiratory Medicine Journal, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.
Henter JI et al.
Blood, 2024
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Correia Marques M et al.
Arthritis & Rheumatology (hoboken, N.j.), 2024
Germline variants in acquired aplastic anemia: current knowledge and future perspectives.
Wang P et al.
Haematologica, 2024
Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry.
Pegoraro F et al.
Haematologica, 2024
Severe Features of Systemic Juvenile Idiopathic Arthritis in Patients With Congenital Heart Disease.
Aires BP et al.
The Journal of Rheumatology, 2024
Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis.
Kadi Ozan Z et al.
Journal of Pediatric Hematology/oncology, 2024
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.
Rafati M et al.
Transplantation and Cellular Therapy, 2024
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Wilke MVMB et al.
Orphanet Journal of Rare Diseases, 2024
Familial hemophagocytic lymphohistiocytosis: from macrophage activation syndrome to CLIPPERS.
Lemarchant B et al.
Journal of Neurology, 2024
Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.
Ishimura M et al.
International Journal of Hematology, 2024
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Marques MC et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Stadermann A et al.
International Journal of Molecular Sciences, 2024
Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants.
Bloch C et al.
The Journal of Allergy and Clinical Immunology, 2024
Genetics of Primary Hemophagocytic Lymphohistiocytosis.
Karageorgos S et al.
Advances in Experimental Medicine and Biology, 2024
Genetics of Acquired Cytokine Storm Syndromes : Secondary HLH Genetics.
Schulert GS et al.
Advances in Experimental Medicine and Biology, 2024
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.
Sangiorgi E et al.
Genes, 2023
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.
Xin X et al.
The American Journal of the Medical Sciences, 2023
First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
Sienes Bailo P et al.
Annals of Clinical Biochemistry, 2023
Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes.
Rocco JM et al.
The Journal of Infectious Diseases, 2023
Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.
You Y et al.
Medicine, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
sCD25 as an independent adverse prognostic factor in adult patients with HLH: results of a multicenter retrospective study.
Wimmer T et al.
Blood Advances, 2023
Hemophagocytic Syndrome and COVID-19: A Comprehensive Review.
Fadlallah MM et al.
Cureus, 2023
DOCK2 Mutation and Recurrent Hemophagocytic Lymphohistiocytosis.
Reiff DD et al.
Life (basel, Switzerland), 2023
Novel Candidate loci and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing.
Andrés-Zayas C et al.
Cancers, 2023