Delayed presentation of severe combined immunodeficiency due to prolonged maternal T cell engraftment.
Severe combined immunodeficiency (SCID) is a primary immunodeficiency disorder with heterogenous genetic etiologies. We describe a typical case in a 9-year-old boy that was masked by a clinically functional maternal T cell engraftment leading to late presentation with Pneumocystis jiroveci pneumonia and cytomegalovirus infection, probably following exhaustion of maternally engrafted cells. Based on immunological findings, he had a T- B+SCID phenotype.This report suggests that in rare cases, engrafted maternal T cell might persist for long time leading to partial constitution of immune function and delayed clinical presentation of SCID.
Al-Muhsen
Saleh Z
SZ
Department of Pediatrics, King Khaled University Hospital, King Saud University, Riyadh, Saudi Arabia. almuhsen@ksu.edu.sa
D002648:Child; D003586:Cytomegalovirus Infections; D005260:Female; D006801:Humans; D008213:Lymphocyte Activation; D010641:Phenotype; D045363:Pneumocystis carinii / Q000276:immunology / Q000302:isolation & purification; D011020:Pneumonia, Pneumocystis / Q000175:diagnosis / Q000209:etiology / Q000382:microbiology; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D013601:T-Lymphocytes / Q000276:immunology*; D013997:Time Factors; D053632:X-Linked Combined Immunodeficiency Diseases / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics