SNP Shot: Genomic Insights

JAK3-deficient severe combined immunodeficiency (SCID) is a genetic immune system disease. People with this type of SCID don't have enough of the right immune cells to protect them from certain germs like bacteria, viruses, and fungi. This makes them very likely to get infections that keep coming back and can be very dangerous or even fatal. These infections are often caused by "opportunistic" organisms that don't usually make healthy people sick. Babies with JAK3-deficient SCID often have ongoing diarrhea, a fungal mouth infection called oral thrush, pneumonia, and skin problems. These constant illnesses also slow down their growth. Without medical care, individuals with JAK3-deficient SCID usually don't live past early childhood.

Inheritance:

JAK3-deficient SCID follows an autosomal recessive inheritance pattern. This means a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Parents who each carry one copy of the mutated gene typically don't have any symptoms themselves.