immunodeficiency 132B

A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material

A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32.

Signs and symptoms

• Recurrent lower respiratory tract infections
• Atrophic gastritis
• Increased size of nasopharyngeal adenoids
• Enlarged tonsils
• Mediastinal lymphadenopathy
• Thyroiditis
• Decreased total lymphocyte count
• Pyoderma
• Arthritis
• Ileitis