Conditions / Genetic
immunodeficiency 70
info · Genetic
A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS
A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3.
Signs and symptoms
- Retinal vasculitis
- Decreased circulating immunoglobulin concentration
- Furuncle
- Achalasia
- Colitis
- Palmar warts
- Plantar warts
- Recurrent sinusitis
- Chronic fatigue
- Celiac disease
Also known as: IMD70