immunodeficiency 50

A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_materi

A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.

Signs and symptoms

• Recurrent urinary tract infections
• Decreased circulating immunoglobulin concentration
• Decreased total lymphocyte count
• Eczematoid dermatitis
• Recurrent respiratory infections
• Decreased total neutrophil count

Also known as: CID due to Moesin deficiency; IMD50; MSN-related combined immunodeficiency; X-linked Moesin-associated immunodeficiency; combined immunodeficiency due to Moesin deficiency