Lymphoproliferative Syndrome 1; Lpfs1
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 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Lymphoproliferative Syndrome 1; Lpfs1
- Anemia
- Hepatomegaly
- Fever
- Splenomegaly
- Immunodeficiency
- Recurrent infections
- Thrombocytopenia
- Pneumonia
- Hepatosplenomegaly
- Autoimmunity
And another 23 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Lymphoproliferative Syndrome 1; Lpfs1 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 ITK Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ITK
Specificity
100 %
Genes
100 % |
|
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
FAS, FASLG, CASP10, CASP8, MAGT1, FADD, ITK, KRAS, NRAS
Specificity
12 %
Genes
100 % |
|
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, GATA2, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A
Specificity
7 %
Genes
100 % |
|
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
FAS, FASLG, CASP10, CASP8, MAGT1, FADD, ITK, KRAS, NRAS
Specificity
12 %
Genes
100 % |
|
Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A
Specificity
8 %
Genes
100 % |
|
ITK Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ITK
Specificity
100 %
Genes
100 % |
|
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.
By Genetic Services Laboratory University of Chicago (United States).
BLM, SH2D1A, BRCA1, BRCA2, STXBP2, FAS, CD27, FASLG, WAS, IKZF1, CASP10, CARD11, TNFRSF13B, ADA, DOCK8, CTLA4, MAGT1, ITK, NBN, NF1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
 ITK.
By Institute for Human Genetics University Clinic Freiburg (Germany).
ITK
Specificity
100 %
Genes
100 % |
You can get up to 26 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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