Combined immunodeficiency due to ITK deficiency
Synonyms: Autosomal recessive lymphoproliferative disease due to ITK deficiency · ITK deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to ITK deficiency | Autosomal recessive lymphoproliferative disease due to ITK deficiency · ITK deficiency |
| fr | Déficit immunitaire combiné par déficit en ITK | Déficit en ITK · Immunodéficience combinée par déficit en ITK · Maladie lymphoproliférative autosomique récessive par déficit en ITK |
| de | Immundefekt, kombinierter, durch ITK-Mangel | Autosomal-rezessives lymphoproliferatives Syndrom durch ITK-Defekt · ITK-Defizienz · ITK-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de ITK | Deficiencia de ITK · Enfermedad linfoproliferativa autosómica recesiva por deficiencia de ITK |
| it | Immunodeficienza combinata da deficit di ITK | |
| nl | Gecombineerde immuundeficiëntie door ITK-deficiëntie | ITK-deficiëntie · Autosomaal recessieve lymfoproliferatieve ziekte door ITK-deficiëntie |
| pt | Imunodeficiência combinada por deficiência de ITK | |
| pl | Złożony niedobór odporności z powodu deficytu ITK | Autosomal recessive lymphoproliferative disease due to ITK deficiency |
| cs | Kombinovaná imunodeficience způsobená deficitem ITK | ITK deficit · Autozomálně recesivní lymfoproliferativní onemocnění způsobené deficitem ITK |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом ІТК | Аутосомно-рецесивне лімфопроліферативне захворювання, зумовлене дефіцитом ІТК · Дефіцит ІТК |
| zh | ITK基因缺陷诱导的联合免疫缺陷 | ITK基因缺陷导致的常染色体隐性淋巴细胞增殖症 |
| tr | ITK eksikliğine bağlı kombine immün yetmezlik | ITK eksikliği · ITK eksikliğine bağlı otozomal Çekinik lenfoproliferatif hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613011 | E | validated | |
| ICD-10 | D82.3 | NTBT | attributed | validated |
| MONDO | 0013081 | E | validated | |
| UMLS | C3552634 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:718053Combined immunodeficiency with low CD4 and normal CD8
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664456Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
rare genetic diseases; rare immunological diseases - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITK | Disease-causing germline mutation(s) in | Assessed | HGNC:6171 | ENSG00000113263 | 186973 | 5q33.3 | IL2 inducible T cell kinase | 19425169[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 29942301[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29942301[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/538963
- This record as JSON: /data/d/538963.json