Conditions / Immune
immunodeficiency 94
info · Immune
A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene o
A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11.
Signs and symptoms
- Anteverted nares
- Short stature
- Deep philtrum
- Avascular necrosis
- Elevated circulating serum amyloid A concentration
- Prominent forehead
- Hypertelorism
- Hypertrichosis
- Lymphadenopathy
- Recurrent pneumonia
Also known as: immunodeficiency 94 with autoinflammation and dysmorphic facies