SNP Shot: Genomic Insights

ZAP70-related severe combined immunodeficiency (SCID) is a genetic condition that weakens the immune system. It is one type of SCID, a category of disorders resulting from various genetic defects. Individuals with ZAP70-related SCID have almost no immune defenses against bacteria, viruses, and fungi. This makes them highly susceptible to recurring and persistent infections that can be severe or fatal. These infections are often caused by opportunistic organisms, which rarely cause illness in individuals with healthy immune systems. Infants with ZAP70-related SCID commonly develop pneumonia, chronic diarrhea, and extensive skin rashes. Their growth is also significantly slower compared to healthy children. Without treatment to restore immune function, children with ZAP70-related SCID generally survive only one to two years.

In most cases, ZAP70-related SCID is diagnosed within the first six months of life. However, there has been at least one reported case where symptoms appeared later in childhood, with milder manifestations such as recurrent respiratory and skin infections.

Inheritance:

ZAP70-related SCID follows an autosomal recessive inheritance pattern. This means that for an individual to be affected, they must inherit a mutated copy of the ZAP70 gene from both parents. The parents, each carrying a single copy of the altered gene, are typically unaffected carriers of the condition.