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, patients usually die at < 2 years of age. Initially SCID was classified by if the patient was T or B cell deficient or normal, with subsets of NK deficiency or not (i.e. T–B– NK –,T–B+ NK +, etc.) Molecular genetics now has identified multiple genes that are associated with different SCID phenotypes. The genes can cause disease by affecting the hematopoietic precursor survival, cause problems with cytokine signaling, allow toxic metabolite accumulation, genetic recombination, and other mechanisms. Most SCID genes have an autosomal recessive inheritance. Thymic abnormalities are often grouped with SCID because of phenotypic and genetic similarities. DiGeorge syndrome...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news