ORPHA:276
T-B+NK- severe combined immunodeficiency due to gamma chain deficiency
Synonyms: SCIDX1 · T-B+K- severe combined immunodeficiency, X-linked · T-B+NK- SCID due to gamma chain deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK- severe combined immunodeficiency due to gamma chain deficiency | SCIDX1 · T-B+K- severe combined immunodeficiency, X-linked · T-B+NK- SCID due to gamma chain deficiency |
| fr | Déficit immunitaire combiné sévère T-B+NK- par déficit en chaîne gamma | DICS T-B+K- par déficit en chaîne gamma · Déficit immunitaire combiné sévère T-B+K- lié à l'X · IDCS T-B+K- par déficit en chaîne gamma · Immunodéficience combinée sévère T-B+K- par déficit en chaîne gamma · SCID T-B+K- par déficit en chaîne gamma · SCIDX1 |
| de | Immundefekt, kombinierter schwerer, T-B+NK-, durch Gamma-Ketten-Defekt | T-B+NK- SCID durch Gamma-Ketten-Defekt · SCIDX1 · Immundefekt, kombinierter schwerer, T-B+K- , X-chromosomaler |
| es | Inmunodeficiencia combinada grave T-B+NK- por deficiencia de cadena gamma | IDCG T-B+NK- por deficiencia de cadena gamma · SCID T-B+NK- por deficiencia de cadena gamma · SCIDX1 · Inmunodeficiencia combinada grave T-B+K- ligada al cromosoma X |
| it | Immunodeficienza combinata grave T-B+NK- da deficit della catena gamma | SCID T-B+NK- da deficit della catena gamma · Immunodeficienza combinata grave T-B+NK-, legata all'X · SCIDX1 |
| nl | T-B+NK- ernstige gecombineerde immuundeficiëntie door gammaketendeficiëntie | SCIDX1 · T-B+K- ernstige gecombineerde immuundeficiëntie, X-gebonden · T-B+NK- SCID door gammaketendeficiëntie |
| pt | Imunodeficiência combinada grave T-B+ devida a deficiência na cadeia gama | |
| pl | Ciężki złożony Niedobór odporności T-B spowodowany niedoborem łańcuchów gamma | SCIDX1 · T-B+ ciężki Niedobór odporności sprzężony z chromosomem X · T-B+ SCID spowodowany niedoborem łańcuchów gamma |
| cs | T-B+ těžká kombinovaná imunodeficience způsobená deficitem gama řetězce | SCIDX1 · T-B+ SCID způsobený deficitem gama řetězce · T-B+ X-vázaná těžká kombinovaná imunodeficience |
| uk | Т-В+ важкий комбінований імунодефіцит внаслідок дефіциту гамма-ланцюга | SCIDX1 · Т-В+ SCID внаслідок дефіциту гамма-ланцюга · Т-В+ важкий комбінований імунодефіцит, зчеплений з Х-хромосомою |
| zh | γ链缺乏所致T-B+严重联合免疫缺陷 | X连锁T-B+严重联合免疫缺陷 |
| tr | T-B + gama zinciri eksikliğine bağlı ağır kombine immün yetmezlik | SCIDX1 · Gama zinciri eksikliğine bağlı T-B + SCID · T-B + ağır kombine immün yetmezlik, X'e bağlı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300400 | E | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0010315 | E | validated | |
| UMLS | C4707334 | E | validated | |
| GARD | 5618 | 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 (1):
- ORPHA:720287T-B+NK- severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL2RG | Disease-causing germline mutation(s) in | Assessed | HGNC:6010 | ENSG00000147168 | 308380 | Xq13.1 | interleukin 2 receptor subunit gamma |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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
33 annotations · validated 2019-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010701 | Abnormal immunoglobulin level | |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0001888 | Lymphopenia | |
| HP:0002090 | Pneumonia | |
| HP:0001954 | Recurrent fever | |
| HP:0040218 | Reduced natural killer cell count | |
| HP:0031397 | Reduced proportion of naive T cells | |
| Frequent (79-30%) | ||
| HP:0031545 | Abnormally low T cell receptor excision circle level | |
| HP:0012735 | Cough | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0045080 | Decreased proportion of CD3-positive T cells | |
| HP:0002014 | Diarrhea | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0005390 | Recurrent opportunistic infections | |
| HP:0100806 | Sepsis | |
| HP:0000988 | Skin rash | |
| Occasional (29-5%) | ||
| HP:0030813 | Absent tonsils | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0001508 | Failure to thrive | |
| HP:0002732 | Lymph node hypoplasia | |
| HP:0005376 | Recurrent Haemophilus influenzae infections | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0011370 | Recurrent cutaneous fungal infections | |
| HP:0005353 | Recurrent herpes | |
| HP:0005428 | Severe recurrent varicella | |
| Very rare (<4-1%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0003237 | Increased circulating IgG level | |
| HP:0000952 | Jaundice | |
| HP:0002665 | Lymphoma | |
| HP:0005523 | Lymphoproliferative disorder | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301584[PMID]_11129345[PMID]_21732012[PMID]_26454313[PMID]_21094519[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276
- This record as JSON: /data/d/276.json