Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Synonyms: Evans syndrome associated with primary immunodeficiency | TPPII deficiency | TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease | TRIANGLE disease | Tripeptidyl-peptidase II deficiency
A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral bacterial and fungal infections severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells platelets and neutrophils and mild to moderate developmental delay. Laboratory findings include decreased circulating T- B- and natural killer cells and hypergammaglobulinemia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome?
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Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.