Moesin deficiency
Related gene: MSN
Inheritance pattern: X-linked
Moesin deficiency is an X-linked immunodeficiency associated with lymphopenia, neutropenia, and recurrent bacterial infections. Prolonged or severe varicella virus infections have been described in several affected individuals. Eczema and autoimmune manifestations, including thrombocytopenia, have been described. Use of antibiotic prophylaxis, immunoglobulin (Ig) replacement therapy, and granulocyte colony-stimulating factor (GCSF) should be strongly considered. Hematopoietic stem cell transplant (HSCT) may also be a consideration.
