Lymphoproliferative syndrome, X-linked, 1

Preferred Label : Lymphoproliferative syndrome, X-linked, 1;

Symbol : XLP1;

CISMeF acronym : EBVS; IMD5; LYP; XLPD; XLP; XLP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 5; IMD5; EBVS; XLP; Infectious mononucleosis, severe, susceptibility to; Duncan disease; XLPD; LYP; Ebv infection, severe, susceptibility to; Epstein-barr virus infection, familial fatal; Immunodeficiency, X-linked progressive combined variable; Purtilo syndrome; Lymphoproliferative disease, X-linked;

Description : X-linked lymphoproliferative syndrome, or Duncan disease, is a primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis (Purtilo et al., 1977; Purtilo, 1981; Purtilo and Grierson, 1991; Coffey et al., 1998; Booth et al., 2011). - Genetic Heterogeneity of X-linked/Autosomal Lymphoproliferative Syndrome See XLP2 (300635), caused by mutation in the XIAP gene (300079) also on Xq25; LPFS1 (613011), caused by mutation in the ITK gene (186973) on chromosome 5q32; and LPFS2 (615122), caused by mutation in the CD27 gene (186711) on chromosome 12p13.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the SH2 domain protein 1A gene (SH2D1A, 300490.0001);

Neoplasia : Hemophagocytic lymphohistiocytosis; Lymphoma;

Laboratory abnormalities : Increased IgM levels; Reduced IgG levels;

Prefixed ID : #308240;

Details

Origin ID

308240;

UMLS CUI

C5399825;

Automatic exact mappings (from CISMeF team)
- Duncan disease [PASCAL descriptor]
- Epstein-Barr Virus [NCIt concept]
- Immunodeficiency following hereditary defective response to Epstein-Barr virus [ICD-10 Sub-category]
- Lymphomatoid Papulosis [NCIt concept]
- Lymphomatoid papulosis [ORDO Disease]
- PTPN22 wt Allele [NCIt concept]
- SH2 Domain Containing 1A Protein Measurement [NCIt concept]
- SH2 domain containing 1A [ORDO Gene]
- SH2 domain containing 1A [HGNC gene]
- SH2D1A Deficiency [NCIt concept]
- SH2D1A wt Allele [NCIt concept]
- Tyrosine-Protein Phosphatase Non-Receptor Type 22 [NCIt concept]
- X-Linked Protoporphyria [NCIt concept]
- X-linked erythropoietic protoporphyria [ORDO Disease]
- X-linked lymphoproliferative disease due to SH2D1A deficiency [ORDO Disease]
- X-linked lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- herpesvirus 4, human [MeSH Descriptor]
- herpesvirus 4, human [MeSH concept]
- lymphoproliferative disorders [MeSH Descriptor]
- protein tyrosine phosphatase non-receptor type 22 [ORDO Gene]
Broader ORDO disease(s)
- X-linked lymphoproliferative disease [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked Lymphoproliferative Syndrome 1 [NCIt concept]
- X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder) [SNOMED CT concept]
- X-linked lymphoproliferative syndrome 1 [DO Concept]
DO Cross reference
- X-linked lymphoproliferative syndrome 1 [DO Concept]
False automatic mappings
- Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 [ICD-11 More detail]
Genes related to phenotype
- Sh2 domain protein 1a [OMIM gene]
HPO term(s)
- Aplastic anemia [HPO term]
- Burkitt lymphoma [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating antibody level [HPO term]
- Dysgammaglobulinemia [HPO term]
- Fulminant hepatitis [HPO term]
- Hemophagocytosis [HPO term]
- Hepatic encephalopathy [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgM level [HPO term]
- Infectious encephalitis [HPO term]
- Lymphadenopathy [HPO term]
- Lymphocytosis [HPO term]
- Lymphoma [HPO term]
- Meningitis [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Recurrent pharyngitis [HPO term]
- Recurrent respiratory infections [HPO term]
- Reduced natural killer cell activity [HPO term]
- Severe Epstein Barr virus infection [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Variable immunodeficiency [HPO term]
- Vasculitis [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Abnormal B cell count [HPO term]
- Abnormal T cell count [HPO term]
ORDO concept(s)
- X-linked lymphoproliferative disease [ORDO Disease]
- X-linked lymphoproliferative disease due to SH2D1A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-Linked Lymphoproliferative Syndrome [NCIt concept]
- X-Linked lymphoproliferative disorder [MeSH concept]
- X-linked Lymphoproliferative Syndrome 1 [NCIt concept]
- X-linked lymphoproliferative disease [ORDO Disease]
- X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder) [SNOMED CT concept]
- X-linked lymphoproliferative disorder [Disease (Nov.)]
- X-linked lymphoproliferative syndrome [MedDRA Preferred Term]
- X-linked lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- X-linked lymphoproliferative syndrome 1 [DO Concept]
- x-linked lymphoproliferative syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- X-Linked Lymphoproliferative Syndrome [NCIt concept]
- X-linked lymphoproliferative disease [ICD-11 More detail]
- X-linked lymphoproliferative disease [ORDO Disease]

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