Lymphoproliferative syndrome 2

Preferred Label : Lymphoproliferative syndrome 2;

Symbol : LPFS2;

CISMeF acronym : LPFS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cd27 deficiency;

Description : Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily, member 7 gene (TNFRSF7, 186711.0001);

Neoplasia : Lymphoproliferative disorder (in some patients); Hemophagocytic lymphohistiocytosis (in some patients); Lymphoma (in some patients);

Laboratory abnormalities : Increased susceptibility to EBV infection; Persistent EBV viremia; Decreased fibrinogen (in some patients);

Prefixed ID : #615122;

Details

Origin ID

615122;

UMLS CUI

C3554540;

Automatic exact mappings (from CISMeF team)
- CD27 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Combined immunodeficiency due to CD27 deficiency [ORDO Disease]
- lymphoproliferative syndrome 2 [DO Concept]
DO Cross reference
- lymphoproliferative syndrome 2 [DO Concept]
Genes related to phenotype
- Cd27 antigen [OMIM gene]
HPO term(s)
- Aplastic anemia [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased lymphocyte proliferation in response to mitogen [HPO term]
- EBV encephalitis [HPO term]
- EBV meningitis [HPO term]
- Fever [HPO term]
- Hemophagocytosis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hodgkin lymphoma [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoma [HPO term]
- Lymphoproliferative disorder [HPO term]
- Oral ulcer [HPO term]
- Pancytopenia [HPO term]
- Persistent EBV viremia [HPO term]
- Recurrent infections [HPO term]
- Recurrent pneumonia [HPO term]
- Sepsis [HPO term]
- Severe varicella zoster infection [HPO term]
- Splenomegaly [HPO term]
- Uveitis [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to CD27 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- lymphoproliferative syndrome 2 [DO Concept]

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