Lymphoproliferative syndrome 1

Preferred Label : Lymphoproliferative syndrome 1;

Symbol : LPFS1;

CISMeF acronym : LPFS1;

Type : Phenotype, molecular basis known;

Description : Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the IL2-inducible T-cell kinase gene (ITK, 186973.0001);

Neoplasia : Increased risk for lymphoma Hodgkin disease;

Laboratory abnormalities : Elevated erythrocyte sedimentation rate (ESR); Increased C-reactive protein; High EBV viral load;

Prefixed ID : #613011;

Details

Origin ID

613011;

UMLS CUI

C3552634;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to CD27 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) [SNOMED CT concept]
- Lymphoproliferative Syndrome 1 [NCIt concept]
- lymphoproliferative syndrome 1 [DO Concept]
- lymphoproliferative syndrome, Ebv-Associated, autosomal, 1 [MeSH concept]
- lymphoproliferative syndrome, Ebv-Associated, autosomal, 1 [MeSH Supplementary Concept]
DO Cross reference
- lymphoproliferative syndrome 1 [DO Concept]
Genes related to phenotype
- Il2-inducible t-cell kinase [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- B-cell lymphoma [HPO term]
- Childhood onset [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Hepatomegaly [HPO term]
- Hodgkin lymphoma [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Juvenile onset [HPO term]
- Leukopenia [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoproliferative disorder [HPO term]
- Pancytopenia [HPO term]
- Pericardial effusion [HPO term]
- Persistent EBV viremia [HPO term]
- Pleural effusion [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Splenomegaly [HPO term]
- Stomatitis [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Hemophagocytosis [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to ITK deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder) [SNOMED CT concept]
- lymphoproliferative syndrome 1 [DO Concept]

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