has material basis in germline mutation in LIG1 immunodeficiency disease immunodeficiency 96 https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/immunodeficiency_96 immunodeficiency, autosomal recessive due to LIG1 deficiency An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair. OMIM:619774 UMLS:C5676930 MEDGEN:1810465 MONDO:0030693 IMD96 immunodeficiency 96 DOID:0061066