Conditions / Immune
immunodeficiency 51
info · Immune
A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mu
A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.
Signs and symptoms
- Pustule
- Recurrent skin infections
- Recurrent cutaneous fungal infections
- Cutaneous abscess
- Recurrent mucocutaneous candidiasis
- Recurrent Staphylococcus aureus infection
- Recurrent otitis media
- Recurrent oral thrush
- Folliculitis
- Pustular rash
Also known as: CANDF5; IMD51; familial candidiasis 5