MHC class II deficiency

MHC class II deficiency is a rare genetic disorder in which people lack or have reduced expression of human leukocyte antigen (HLA) class II proteins. These proteins play a key role in the body’s immune system by helping it recognize foreign substances. Without proper HLA class II expression, both the cellular and humoral arms of the immune system are affected, leading to a severe defect in the response to infections. People with this condition commonly experience a high risk of infections. Many also suffer from severe malabsorption and failure to thrive, particularly during early childhood. The condition is serious and, in many cases, can be fatal at a young age.

Common signs of MHC class II deficiency include a marked susceptibility to infections, severe malabsorption, and failure to thrive. These symptoms indicate that the immune system is not functioning as it should, making it hard for people with this condition to fight off infections.

The condition is caused by a defect in the expression of HLA class II. This genetic defect determines the body’s inability to properly produce these important immune system molecules. Detailed genetic and risk factor information is limited, but the root cause is tied to faulty production of HLA class II proteins.

Information about treatment is currently limited for this condition.

The outlook for people with MHC class II deficiency is generally poor as the condition is often fatal in early childhood. The severity of immune system compromise contributes to significant challenges in managing infections and maintaining overall health.

Information about research is currently limited for this condition.