4.5 Review

Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children

Related references

Note: Only part of the references are listed.
Editorial Material Clinical Neurology

Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation

Giorgia Bucciol et al.

Summary: Encephalitis and encephalopathy in children pose a diagnostic challenge. This case report highlights the importance of considering hemophagocytic lymphohistiocytosis (HLH) as a differential diagnosis, especially in isolated central nervous system forms. Inborn errors of immunity may underlie isolated encephalitis, and should be included in the differential diagnosis for these presentations.

NEUROLOGY (2022)

Article Immunology

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Aziz Bousfiha et al.

Summary: The article provides an updated phenotypic classification of IEI for clinicians, covering 485 underlying phenotypes, including novel monogenic defects and an autoimmune phenocopy.

JOURNAL OF CLINICAL IMMUNOLOGY (2022)

Article Radiology, Nuclear Medicine & Medical Imaging

MRI findings of central nervous system involvement in children with haemophagocytic lymphohistiocytosis: correlation with clinical biochemical tests

W. Ma et al.

Summary: The study found a close correlation between brain MRI findings and biochemical tests in children with HLH-CNS, with significant differences in biochemical values among different MRI groups. Some biochemical indicators were positively correlated with MRI results.

CLINICAL RADIOLOGY (2021)

Article Immunology

Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients

Katarzyna Babol-Pokora et al.

Summary: This study investigated the molecular genetics and outcomes of pediatric patients with HLH in Poland, finding that familial HLH variants were common and Epstein-Barr virus was the most common trigger for secondary HLH. The overall survival rate of patients was 74% with a median follow-up of 3.6 years.

ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS (2021)

Article Clinical Neurology

Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome

Guillaume Taieb et al.

Summary: In adults with CLIPPERS, a significant proportion have mutations in HLH genes. This treatable genetic condition should be considered in CLIPPERS patients, especially those with atypical presentations.

NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION (2021)

Article Clinical Neurology

Neurological involvement in secondary hemophagocytic lymphohistiocytosis in children

Nail Benallegue et al.

Summary: Secondary hemophagocytic lymphohistiocytosis (sHLH) presents distinct neurological characteristics on MRI compared to primary hemophagocytic lymphohistiocytosis (pHLH) and acute disseminated encephalomyelitis (ADEM). Neurological symptoms of sHLH are non-specific, but favorable outcomes are seen in most children.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2021)

Article Genetics & Heredity

Epidemiological investigation of hemophagocytic lymphohistiocytosis in China

Shuyan Yao et al.

Summary: Research on hemophagocytic lymphohistiocytosis (HLH) has mainly focused on etiology and treatment, with few epidemiological reports. Data on HLH cases in China in 2019 showed that Epstein-Barr virus accounted for 44.01% of cases in 31 regions. Age and gender differences were found in the distribution of HLH etiology in China.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Review Hematology

Pediatric hemophagocytic lymphohistiocytosis

Scott W. Canna et al.

BLOOD (2020)

Article Medicine, General & Internal

Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis

F. Locatelli et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Article Immunology

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis

Annaliesse Blincoe et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2020)

Review Immunology

Application of Flow Cytometry in Primary Immunodeficiencies: Experience From India

Manisha Rajan Madkaikar et al.

FRONTIERS IN IMMUNOLOGY (2019)

Article Clinical Neurology

Pediatric CNS-isolated hemophagocytic lymphohistiocytosis

Leslie A. Benson et al.

NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION (2019)

Article Medicine, General & Internal

Adult haemophagocytic syndrome

Manuel Ramos-Casals et al.

LANCET (2014)

Review Biochemical Research Methods

Contemporary diagnostic methods for hemophagocytic lymphohistiocytic disorders

Theodore S. Johnson et al.

JOURNAL OF IMMUNOLOGICAL METHODS (2011)

Review Oncology

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis

Jan-Inge Henter et al.

PEDIATRIC BLOOD & CANCER (2007)