First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey

To the Editor, X-linked lymphoproliferative disease (XLP) is a rare disorder characterized by an extreme vulnerability to Epstein- Barr virus (EBV) infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH) [1]. XLP-1, its more common subtype, is caused by defects in the SH2D1A gene...

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Bibliographic Details
Published in:Turkish journal of haematology 2018, Vol.35 (3), p.200-202
Main Authors: Kesici, Selman, Yılmaz Keskin, Ebru, Chiang, Samuel C.C., Kasapkara, Çiğdem Seher, Sekine, Takuya, Akçaboy, Meltem, Fettah, Ali, Bryceson, Yenan T.
Format: Article
Language:English
Subjects:
Biomarkers
Bone marrow
Combined Modality Therapy
DNA Mutational Analysis
epstein-barr virus
Families & family life
Family medical history
Fatal Outcome
Fever
Genetic Association Studies
Genetic counseling
Genetic Predisposition to Disease
Hematology
hemophagocytosis
Hospitalization
Humans
Infections
Letters to the Editor
lymphoproliferative disease
Lymphoproliferative Disorders - diagnosis
Lymphoproliferative Disorders - drug therapy
Lymphoproliferative Disorders - genetics
Male
Medicin och hälsovetenskap
Mutation
Pediatrics
Pedigree
Signaling Lymphocytic Activation Molecule Associated Protein - genetics
Stem cells
Tıp
Transplants & implants
Turkey
Young Adult
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Summary:To the Editor, X-linked lymphoproliferative disease (XLP) is a rare disorder characterized by an extreme vulnerability to Epstein- Barr virus (EBV) infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH) [1]. XLP-1, its more common subtype, is caused by defects in the SH2D1A gene that encodes the signaling lymphocyte activation molecule-associated protein (SAP), which regulates the activation of T lymphocytes [2], whereas XLP-2 is caused by mutations in the XIAP gene, also known as BIRC4 [3].
ISSN:1300-7777
1308-5263
1308-5263
DOI:10.4274/tjh.2017.0445