IRAK4 Deficiency: Symptoms, Causes & Management | Rare Disease Info

IRAK-4 deficiency is a rare genetic disorder that affects the immune system. It is caused by mutations in the IRAK4 gene, which encodes a protein that is involved in the inflammatory response. IRAK-4 deficiency can lead to a variety of symptoms, including:

* Recurrent infections, including pneumonia, meningitis, and sepsis

* Failure to thrive

* Developmental delay

* Intellectual disability

* Autoimmune disorders, such as rheumatoid arthritis and lupus

* Allergies

* Eczema

* Increased risk of cancer

The severity of the symptoms of IRAK-4 deficiency can vary from person to person. Some people may only have mild symptoms, while others may have severe, life-threatening infections.