loading...| Preferred Name |
Severe combined immunodeficiency |
|
| Synonyms |
SCID |
|
| Definitions |
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) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_183660 |
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| alternative_term |
SCID |
|
| definition |
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) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells. |
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| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660 |
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| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive X-linked recessive |
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| hasDbXref |
MeSH:D016511 MedDRA:10069566 UMLS:C0085110 ICD-11:4A01.10 |
|
| label |
Severe combined immunodeficiency |
|
| notation |
ORPHA:183660 Clinical group |
|
| prefixIRI |
ORDO:Orphanet_183660 |
|
| prefLabel |
Severe combined immunodeficiency |
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| present_in |
Chile AND has_birth_prevalence_average_value : 1.28 AND has_birth_prevalence_range : 1-9 / 100 000 Costa rica AND has_birth_prevalence_average_value : 3.79 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Greece AND has_birth_prevalence_average_value : 1.7 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown United States AND has_birth_prevalence_average_value : 1.72 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.65 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_506219 |