Does She Have SCID?

Discussion Severe-combined immunodefiency (SCID) is actually a group of inherited disorders with an absence or dysfunction of T, B and NK cells that results in severe dysfunction of the immune system. SCID is a primary immunodeficiency. SCID was thought to be a rare disorder but with the advent of neonatal screening the incidence in the US general population is estimated at ~1 in 58,000 live births, but with numbers higher or lower depending on the specific population. Patients often have failure to thrive, oral candidiasis, and diarrhea as infants as well as a variety of infectious diseases. They can also have interstitial lung disease due to Pneumocystis jiroveci or graft-vs-host disease because of maternal lymphocyte engraphment. Without treatment to reconstitute the immune system, pa...

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