complement component 2 deficiency

Complement component 2 deficiency is a genetic condition that primarily affects the immune system, resulting from mutations in the C2 gene. Individuals with this condition often experience recurrent bacterial infections early in life, and there is an increased risk of developing autoimmune disorders such as lupus and vasculitis. Although infections tend to be more severe and frequent in infancy, they generally become less common during the teen and adult years. Precise prevalence rates have not been established, so the condition is considered to have an uncertain frequency in the population.

Patients with complement component 2 deficiency commonly present with recurrent bacterial infections that can be severe during early childhood. In addition to these infections, there is a notable risk for autoimmune conditions, with lupus and vasculitis being among the most frequently reported. Not all individuals experience all features, and severity varies considerably, which means that some affected individuals may have milder symptoms while others face more significant challenges during childhood.

Complement component 2 deficiency is caused by mutations in the C2 gene, which plays an important role in the immune system. The condition is inherited in an autosomal recessive manner, meaning that an affected individual has inherited two mutated copies of the C2 gene, one from each parent. This inheritance pattern indicates that both parents are typically carriers of the genetic variant even if they do not show symptoms, and genetic counseling can provide additional guidance for family planning.

Currently, management of complement component 2 deficiency focuses on supportive care and symptom management rather than specific, targeted treatments. A multidisciplinary team approach is typically employed to address recurrent infections and manage any associated autoimmune conditions. Patients are encouraged to work closely with their healthcare team to tailor supportive treatments to their individual needs, and genetic counseling is recommended to assist families in understanding the implications of this autosomal recessive condition.

The course of complement component 2 deficiency varies widely among affected individuals. Many patients experience more frequent and severe infections during early childhood, with a general trend toward fewer infections as they reach adolescence and adulthood. Outcomes depend on factors such as symptom severity, age at diagnosis, and access to specialized care, and modern supportive treatments have the potential to improve quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with genetic counselors and specialists familiar with this condition.