Conditions / Genetic
immunodeficiency 22
info · Genetic
A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1
A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
Signs and symptoms
- Autoimmunity
- Retinal vasculitis
- Decreased circulating IgE concentration
- Recurrent lower respiratory tract infections
- Protracted diarrhea
- Decreased total CD4+ T cell proportion
- Failure to thrive
- Anemia
- Pericarditis
- Fever
Also known as: IMD22; SCID due to LCK deficiency; SCID due to lymphocyte-specific protein tyrosine kinase deficiency; severe combined immunodeficiency due to LCK deficiency; severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency