Conditions / Syndrome
ectodermal dysplasia and immunodeficiency 1
info · Syndrome
An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) o
An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28.
Signs and symptoms
- Recurrent sepsis
- Recurrent lower respiratory tract infections
- Hypopigmentation of the skin
- Bacteremia
- Sparse eyebrow
- Unusual infectious osteomyelitis
- Dry skin
- Bacterial cellulitis
- Unusual mycobacterial infection
- Conical incisor