Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

MedGen UID:: 891742
•Concept ID:: CN237691
•: Disease or Syndrome

Synonyms:	autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome; Evans syndrome associated with primary immunodeficiency; TPPII deficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; triangle disease; TRIANGLE disease; Tripeptidyl-peptidase II deficiency; tripeptidyl-peptidase II deficiency
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018636
Orphanet:	ORPHA444463

Definition

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. [from ORDO]

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GTR
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CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

Immunodeficiency syndrome with autoimmunity
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

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Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome

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