Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (OMIM )-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.
And another 1 symptoms. If you need more information about this disease we can help you.
Hemophagocytic Lymphohistiocytosis, Familial, 3; Fhl3 Is also known as hplh3, hlh3.
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
UNC13D
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
UNC13D
Specificity
100 %
Genes
100 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
UNC13D
Specificity
100 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
UNC13D
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
UNC13D
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
STX11, STXBP2, DCLRE1C, UNC13D, PRF1, RAG1, RAG2
Specificity
15 %
Genes
100 % |
You can check the following sources for additional information.
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