TRIANGLE disease
TRIANGLE disease is a rare genetic disorder of the immune system. TRIANGLE stands for “TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion” where TPP2 is the causative gene. This disease manifests as recurrent infection, autoimmunity, and neurodevelopmental delay. TRIANGLE disease was first described in a collaborative study by Dr. Helen C. Su from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, and Dr. Sophie Hambleton from the University of Newcastle and their collaborators in 2014. The disease was also described by the group of Ehl et al.
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TRIANGLE disease
TRIANGLE disease is a rare genetic disorder of the immune system. TRIANGLE stands for “TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion” where TPP2 is the causative gene. This disease manifests as recurrent infection, autoimmunity, and neurodevelopmental delay. TRIANGLE disease was first described in a collaborative study by Dr. Helen C. Su from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, and Dr. Sophie Hambleton from the University of Newcastle and their collaborators in 2014. The disease was also described by the group of Ehl et al.
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TRIANGLE disease is a rare gen ...... bed by the group of Ehl et al.
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ICD10
ORPHA
Wikipage page ID
47,929,454
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1,022,266,709
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TRIANGLE disease has an autosomal recessive pattern of inheritance
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ICD
D61.0
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Orphanet
synonyms
TPPII-related immunodeficiency ...... nd lysosomal expansion disease
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hypernym
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TRIANGLE disease is a rare gen ...... bed by the group of Ehl et al.
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label
TRIANGLE disease
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