immunodeficiency 102

A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in

A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26.

Signs and symptoms

• Decreased naive CD4+ T cell proportion
• Recurrent lower respiratory tract infections
• Reduced total natural killer cell count
• Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide
• Chronic rhinitis
• Decreased total leukocyte count
• Increased circulating interleukin 6 concentration
• Severe influenza infection
• Chronic sinusitis
• Decreased total B cell count