Conditions / Immune
immunodeficiency 133
info · Immune
A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that
A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21.
Signs and symptoms
- Encephalopathy
- Recurrent lower respiratory tract infections
- Post-vaccination varicella zoster virus infection
- B-cell lymphoma
- Nausea
- Constipation
- Microcephaly
- Combined immunodeficiency
- Decreased naive T cell proportion
- Cough
Also known as: immunodeficiency 133 with autoimmunity and autoinflammation