NIK deficiency

NIK deficiency is a very rare inherited immune system disorder caused by changes (mutations) in the MAP3K14 gene, which provides instructions for making a protein called NF-κB-inducing kinase, or NIK. This protein plays a key role in helping the immune system develop and work properly. When NIK is missing or does not work correctly, the immune system cannot build and organize certain important structures — including the spleen, lymph nodes, and patches of immune tissue in the gut — that are needed to fight infections. People with NIK deficiency have a condition called combined immunodeficiency, meaning both the antibody-producing (B cell) and infection-fighting (T cell) arms of the immune system are affected. This leads to repeated, serious infections starting in early childhood. Patients may also have low levels of protective antibodies in the blood and an unusually small or absent spleen. The condition is sometimes referred to as MAP3K14 deficiency. Treatment focuses on preventing and treating infections, replacing missing antibodies through regular infusions (immunoglobulin replacement therapy), and in some cases, bone marrow (stem cell) transplantation, which may offer the best chance of correcting the underlying immune problem. Early diagnosis is very important to reduce the risk of serious complications from infections.

Bring these to your next appointment

• Q1.What type of genetic testing should my child have to confirm the diagnosis?,Should other family members be tested to see if they are carriers?,Is my child a candidate for stem cell (bone marrow) transplantation, and what are the risks and benefits?,How often does my child need immunoglobulin infusions, and can these be done at home?,Which vaccines are safe for my child to receive?,What infections should I watch for, and when should I go to the emergency room?,Are there any clinical trials or research studies we could join?

Common questions about NIK deficiency