Cuándo sospechar de la inmunodeficiencia combinada grave en niños

Severe combined immunodeficiency comprises a collection of genetic defects that involve both humoral and cellular immunity. A profound lack of immune function leads to infections that are generally fatal in infancy unless the immune system can be reconstituted. Infants with severe combined immunodeficiency appear normal at birth. Combined immunodeficiency has most often an early onset, frequently with protracted diarrhea, interstitial pneumonia, recurrent or persistent candidiasis, and failure to thrive. Infections are sustained by intracellular pathogens (especially Pneumocystis jiroveci), viruses, bacteria, and fungi. Lymphopenia is a laboratory hallmark of severe combined immunodeficiency. Hematopoietic stem cell transplantation is the treatment of choice for severe combined immunodeficiency, and can cure 97% of the affected patients. Promising results have been achieved with gene therapy, although long-term safety remains an issue.