Lymphoproliferative Syndrome 1; Lpfs1

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Lymphoproliferative Syndrome 1; Lpfs1

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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.

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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 Panel complete gene list BLM, SH2D1A, BRCA1, BRCA2, STXBP2, FAS, CD27, FASLG, WAS, IKZF1, CASP10, CARD11, TNFRSF13B, ADA, DOCK8, CTLA4, MAGT1, ITK, NBN, NF1, ATM, PIK3CD, PRF1 Specificity 5 % Genes 100 %
ITK. By Institute for Human Genetics University Clinic Freiburg (Germany). ITK Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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