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Phenotypically, patients have markedly reduced circulating T cells, an absence of serum Ig in spite of normal B-cell numbers, preserved NK cell numbers and function. Ig levels and NK phenotype are distinct from gamma common chain deficiency, clinically the patients are indistinguishable, with severe and persistent viral and protozoal infections. The recurrent bacterial infections like pneumonia, otitis media, sepsis, persistant viral infections (RSV, enterovirus, parainfluenza, CMV), opportunist infections (Pneumocystis carinii pneumonia) have the onset soon after birth. Other features include failure to thrive and diarrhoea.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Treatment of infections with antibacterials, antifungals, and antivirals. Bone marrow transplantation is the only treatment of SCID. Other recommendations include: intravenous gamma-globulin infusion, irradiation of all blood products.
- Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease
- Severe combined immunodeficiency, eMedicine