Immunodeficiency 46 (IMD46)

Immunodeficiency 46, also known as tfrc-related combined immunodeficiency, is related to immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis and occlusion of gallbladder. An important gene associated with Immunodeficiency 46 is TFRC (Transferrin Receptor), and among its related pathways/superpathways is 3q29 copy number variation syndrome. Affiliated tissues include b cells and t cells, and related phenotypes are intermittent thrombocytopenia and recurrent sinopulmonary infections