Conditions / Genetic
immunodeficiency 121
info · Genetic
A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chrom
A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22.
Signs and symptoms
- Decreased naive CD4+ T cell proportion
- Abnormally low T cell receptor excision circle level
- Recurrent infections
- Decreased total T cell count
- Diarrhea
- Decreased total B cell count
- Decreased mitogen-induced T-cell proliferation
- Erythroderma
- Immunodeficiency
- Failure to thrive
Also known as: immunodeficiency 121 with autoinflammation