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

ORPHA: 1691602 Treatments Available

Overview

human disease

Available Treatments (2)

DrugFormStatusCountriesLead Time
Immunoglobulin
Cold Chain
IV infusion 10% solution (100mg/mL), subcutaneous injection 20% solutionFDA Approved1010d
Hematopoietic stem cell transplantation
Orphan Cold Chain
Intravenous infusion of stem cellsStandard of care1090d

Clinical Presentation

Signs and symptoms associated with T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta, sourced from HPO and Orphanet clinical annotations.

Recurrent infectionsDecreased total lymphocyte countFeverDecreased circulating total IgADecreased circulating IgG concentrationFailure to thrive secondary to recurrent infectionsDecreased mitogen-induced T-cell proliferationDecreased total T cell countOtitis mediaErythrodermaHepatosplenomegalyIncreased total eosinophil countDiarrheaAnorexiaPneumoniaRecurrent abscess formationProtracted diarrheaRecurrent herpesRecurrent candida infectionsRecurrent pneumoniaChronic oral candidiasisIncreased circulating immunoglobulin concentrationHepatitis

Classification & Codes

Orphanet Code

ORPHA:169160
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
OrphanetORPHA:169160
Treatments2 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO