janus kinase-3 deficiency

A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessi

A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.

Signs and symptoms

• Decreased total T cell count
• Recurrent lower respiratory tract infections
• Abnormal B cell physiology
• Pneumonia
• Absent peripheral lymph nodes in presence of infection
• Decreased anti-CD3/28-induced T-cell proliferation
• Failure to thrive
• Impaired phytohemagglutinin-induced T lymphocyte transformation
• Recurrent otitis media
• Decreased total lymphocyte count