Autoinflammation, Immune Dysregulation and Eosinophilia (AIIDE)
Autozomálně dominantní
Caused by gain-of-function changes in one copy of JAK1 that make the JAK1 signalling protein overactive.
Příznaky a projevy
Eczema-like skin inflammation and asthma have been reported with JAK1 gain-of-function changes.
Co se diagnózou změní
Care is led by clinical immunology. JAK inhibitor medicines, which target the overactive pathway, are a possible option, alongside treatment of individual complications. Genetic counselling and testing of relatives are appropriate, as each child of an affected person has a 1 in 2 chance of inheriting the change.
Analyzované geny
Známé také jako
AIIDE
