X-linked severe combined immunodeficiency (X-SCID) is an inherited condition of the immune system that causes recurrent and persistent infections, particularly in males.
Symptoms can begin within the first months of life and can be life-threatening.
This condition is caused by pathogenic (disease-causing) variants in the IL2RG gene and exhibits X-linked recessive inheritance. This means that the mother must be a carrier to have a 50% chance of their sons having the condition and their daughters being carriers. Carriers typically do not experience any symptoms.
Resources:
Genetic and Rare Diseases Information Center (GARD)
International Patient Organization for Primary Immunodeficiencies
Revised June 2022
