Back to Search
Start Over
X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis
- Source :
- Journal of Pediatric Hematology/Oncology. 39:e483-e485
- Publication Year :
- 2017
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2017.
-
Abstract
- Hemophagocytic lymphohistiocytosis is characterized by uncontrolled activation of the immune system that leads to systemic hyperinflammation. Lymphoproliferative syndrome linked to the X chromosome is a hereditary immunodeficiency characterized by an inability to mount an adequate immune response to an Epstein-Barr virus infection. Hemophagocytic lymphohistiocytosis is one of the main clinical features of X-linked lymphoproliferative syndrome. We report the case of a patient who presented with primary hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection without a familial history of immunodeficiency. A mutation in the SH2D1A gene was identified, which confirmed the diagnosis of type 1 X-linked lymphoproliferative syndrome.
- Subjects :
- Male
Epstein-Barr Virus Infections
Herpesvirus 4, Human
Biopsy
DNA Mutational Analysis
medicine.disease_cause
Multimodal Imaging
Lymphohistiocytosis, Hemophagocytic
Virus
Immunophenotyping
03 medical and health sciences
0302 clinical medicine
Immune system
Humans
Medicine
Signaling Lymphocytic Activation Molecule Associated Protein
Child
Codon
Immunodeficiency
X chromosome
Mutation
Hemophagocytic lymphohistiocytosis
business.industry
X-linked lymphoproliferative disease
Hematology
medicine.disease
Lymphoproliferative Disorders
Phenotype
Amino Acid Substitution
Oncology
030220 oncology & carcinogenesis
Pediatrics, Perinatology and Child Health
Immunology
business
Biomarkers
030215 immunology
Subjects
Details
- ISSN :
- 10774114
- Volume :
- 39
- Database :
- OpenAIRE
- Journal :
- Journal of Pediatric Hematology/Oncology
- Accession number :
- edsair.doi.dedup.....85a2b4ceff204e986eff2fc2277fcd4f