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.
Genetic and Rare Diseases Information Center (GARD)
International Patient Organization for Primary Immunodeficiencies
Revised June 2022