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

Orpha code: 169160OMIM code: 615617

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID z powodu CD3delta/CD3epsilon/CD3zeta
Kod ORPHA
169160
Kod OMIM
615617
Kod ICD10
D81.2
Kod ICD11
4A01.10

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl