X-linked Severe Combined Immunodeficiency

Summarized by Plex Health
Last Updated: 07 May 2022

X-linked severe combined immunodeficiency is an inherited disorder of the body immune system that happens practically solely in males. Children with X-linked SCID are prone to recurrent and persistent infections since they do not have the necessary immune cells to combat off specific microorganisms, viruses, and fungis. If untreated, babies with X-linked SCID can develop poor growth, chronic diarrhea, a fungal infection called thrush, skin breakouts, and lethal infections. X-linked SCID is the most common form of a group of severe combined immunodeficiency disorders. The incidence of all severe combined immunodeficiency disorders is 1 in 60,000 babies and it is estimated that one-quarter to one-third of these cases are X-linked SCID. Variations in the IL2RG genetics cause X-linked SCID. The IL2RG genetics provides directions for making a protein that is important for normal body immune system function. This protein is necessary for the development and maturation of developing body immune system cells called lymphocytes. Variations in the IL2RG genetics stop these cells from developing and functioning normally.

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