Severe combined immunodeficiency
Synonyms: SCID
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe combined immunodeficiency | SCID |
| fr | Déficit immunitaire combiné sévère | IDCS · Immunodéficience combinée sévère · SCID |
| de | Immundefekt, kombinierter schwerer | = en |
| es | Inmunodeficiencia combinada grave | IDCG · SCID |
| it | Immunodeficienza combinata grave | |
| nl | Ernstige gecombineerde immuundeficiëntie | = en |
| pt | Imunodeficiência combinada grave | |
| pl | Ciężki złożony Niedobór odporności | = en |
| cs | Těžká kombinovaná imunodeficience | = en |
| uk | Тяжкий комбінований імунодефіцит | = en |
| zh | 重症联合免疫缺陷 | = en |
| tr | Ağır kombine immün yetmezlik | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 4A01.10 | E | specific | validated |
| MONDO | 0015974 | E | validated | |
| MONDO | 15974 | E | validated | |
| MeSH | D016511 | E | validated | |
| UMLS | C0085110 | E | validated | |
| GARD | 7628 | E | validated | |
| MedDRA | 10069566 | 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 (2):
- ORPHA:101972Combined T and B cell immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:397802OBSOLETE: T+ B+ severe combined immunodeficiency referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
9 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.65 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | France | Value and class | Validated | 22288591[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Greece | Value and class | Validated | 21732012[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.75 / 100 000 | Australia | Value and class | Not yet validated | 18221464[PMID]_9314356[PMID]_ ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.28 / 100 000 | Chile | Value and class | Validated | 17191150[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.79 / 100 000 | Costa rica | Value and class | Validated | 17191150[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.72 / 100 000 | United States | Value and class | Validated | 25138334[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183660
- This record as JSON: /data/d/183660.json