Orphanet: T B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

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T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

Disease definition

A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.

ORPHA:169160

Classification level: Disorder

Synonym(s):
- T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Infancy
ICD-10: D81.2
ICD-11: 4A01.10
OMIM: 610163 615615 615617
UMLS: C5679578
MeSH: -
GARD: -
MedDRA: -

Detailed information

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Article for general public
Arabic (2007, pdf) - IPOPI
Deutsch (2007, pdf) - IPOPI
Greek (2007, pdf) - IPOPI
English (2007, pdf) - IPOPI
Español (2007, pdf) - IPOPI
Eesti keel (2007, pdf) - IPOPI
Français (2007, pdf) - IPOPI
Português (2007, pdf) - IPOPI
Romanian (2007, pdf) - IPOPI
Russian (2007, pdf) - IPOPI
Svenska (2020) - Socialstyrelsen

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T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

ORPHA:169160

A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022) Polski ()

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