ORPHA:444463
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Synonyms: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II · Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease · TRIANGLE disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II · Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease · TRIANGLE disease |
| fr | Syndrome d'anémie hémolytique autoimmune-thrombocytopénie autoimmune-déficit immunitaire primaire par déficit en TPP2 | Syndrome d'anémie hémolytique autoimmune-thrombocytopénie autoimmune-déficit immunitaire primaire par déficit en tripeptidyl-peptidase II · Syndrome d'anémie hémolytique autoimmune-thrombocytopénie autoimmune-immunodéficience primaire par décit en TPP2 · Maladie TRIANGLE · Syndrome d'Evans associé à une immunodéficience primaire |
| de | Syndrom der autoimmunen hämolytischen Anämie mit autoimmuner Thrombozytopenie und primärem Immundefekt | Autoimmunhämolytische Anämie-Autoimmunthrombozytopenie-primärer Immundefekt-Syndrom durch TPP2-Mangel · Evans-Syndrom mit assoziiertem primären Immundefekt · TPPII-Defizienz · TPPII-assoziierter Immundefekt, Autoimmunität und neurologische Entwicklungsstörungen mit gestörter Glykolyse und lysosomaler Expansion · TRIANGLE-Krankheit · Tripeptidyl-Peptidase II-Mangel |
| es | Síndrome de anemia hemolítica autoinmune-trombocitopenia autoinmune-inmunodeficiencia primaria por deficiencia de TPP2 | Enfermedad TRIANGLE · Inmunodeficiencia asociada a TPPII, autoinmunidad, y retraso del neurodesarrollo con alteración de la expansión lisosomal y de la glucólisis · Síndrome de Evans asociado a inmunodeficiencia primaria · Síndrome de anemia hemolítica autoinmune-trombocitopenia autoinmune-inmunodeficiencia primaria por deficiencia de tripeptidil-peptidasa II |
| it | Sindrome anemia emolitica autoimmune-trombocitopenia autoimmune-immunodeficienza primitiva correlata a TPP2 | Anemia emolitica autoimmune e trombocitopenia autoimmune con immunodeficienza primitiva · Immunodeficienza TPPII-correlata, autoimmunità, e ritardo del neurosviluppo con difetto della glicolisi ed espansione lisosomiale · Malattia TRIANGLE · Sindrome anemia emolitica autoimmune-trombocitopenia autoimmune-immunodeficienza primitiva correlata alla tripeptidil-peptidasi II · Sindrome di Evans associata a immunodeficienza primitiva |
| nl | Auto-immune hemolytische anemie - auto-immune trombocytopenie - primaire immuundeficiëntie-syndroom door TPP2-deficiëntie | Auto-immune hemolytische anemie - auto-immune trombocytopenie - primaire immuundeficiëntie-syndroom door deficiëntie van tripeptidyl-peptidase II · Syndroom van Evans geassocieerd met primaire immuundeficiëntie · TPPII-gerelateerde immuundeficiëntie, auto-immuniteit en neurologische ontwikkelingsachterstand met verstoorde glycolyse en lysosomale expansie · TRIANGLE-ziekte |
| pt | Síndrome de anemia hemolítica autoimune-trombocitopenia autoimune-imunodeficiência primária por deficiência TPP2 | Doença TRIANGLE · Imunodeficiência, autoimunidade e perturbação do neurodesenvolvimento TPPII-relacionada com anomalia da glicólise e doença lisossomal de expansão · Síndrome Evans associado a imunodeficiência primária · Síndrome de anemia hemolítica autoimune-trombocitopenia autoimune-imunodeficiência primária por tripeptidil-peptidase II |
| pl | Zespół Evansa związany z pierwotnym niedoborem odporności | Autoimmunologiczna niedokrwistość hemolityczna i małopłytkowość autoimmunologiczna z pierwotnym niedoborem odporności · Choroba TRIANGLE · Niedobór odporności zależny od TPPII, autoagresja, opóźnienie rozwoju nerwowego z upośledzeniem glikolizy i ekspansą lyzosomów · Zespół autoimmunologicznej niedokrwistości hemolitycznej, małopłytkowości autoimmunologicznej, i pierwotnego niedoboru odporności spowodowany niedoborem TPP2 |
| cs | Syndrom zahrnující autoimunitní hemolytickou anemii, trombocytopenii a primární imunodeficit | Syndrom zahrnující autoimunitní hemolytickou anémii, autoimunitní trombocytopenii a primární imunodeficienci · Deficit TPPII · Deficit tripeptidyl-peptidázy II · Onemocnění zahrnující TPPII-vázanou imunodeficienci, autoimunitu a opoždění nervového vývoje s poruchou glykolýzy a lysozomální expanzí · TRIANGLE onemocnění |
| uk | Синдром аутоімунної гемолітичної анемії-аутоімунної тромбоцитопенії-первинного імунодефіциту внаслідок дефіциту TPP2 | Синдром аутоімунної гемолітичної анемії - аутоімунної тромбоцитопенії - первинного імунодефіциту, зумовлений трипептидилпептидазою II · Синдром Еванса, повязаний з первинним імунодефіцитом · Імунодефіцит, повязаний з TPPII, аутоімунне захворювання та затримка нервового розвитку з порушенням гліколізу та хворобою лізосомальної експансії · Хвороба TRIANGLE |
| zh | 自身免疫性溶血性贫血-自身免疫性血小板减少原发性免疫缺陷综合征 | TRIANGLE疾病 |
| tr | Otoimmün hemolitik anemi-otoimmün trombositopeni-primer immün yetmezlik sendromu | Tripeptidil-peptidaz II eksikliği · primer immün yetmezlik ile seyreden Evans sendromu · TPPII-ilişkili immün yetmezlik, otoimmünite ve bozulmuş glikoliz ve lizozomal genişleme hastalığı ile seyreden nörogelişim geriliği · TPPII eksikliği · TRIANGLE hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619220 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | attributed | validated |
| MONDO | 0018636 | E | validated | |
| UMLS | C5543159 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TPP2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12016 | ENSG00000134900 | 190470 | 13q33.1 | tripeptidyl peptidase 2 | 25414442[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 25414442[PMID]_25525876[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25414442[PMID]_25525876[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
14 annotations · validated 2016-10-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001973 | Autoimmune thrombocytopenia | |
| Very frequent (99-80%) | ||
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0012115 | Hepatitis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001888 | Lymphopenia | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0000403 | Recurrent otitis media | |
| HP:0011947 | Respiratory tract infection | |
| HP:0001297 | Stroke | |
| HP:0002725 | Systemic lupus erythematosus | |
| Frequent (79-30%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0001269 | Hemiparesis | |
| HP:0001878 | Hemolytic anemia | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 25414442[PMID]_25525876[PMID]_25414442[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444463
- This record as JSON: /data/d/444463.json