B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations (BILU)

B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations, also known as hoffman syndrome, is related to muscular pseudohypertrophy-hypothyroidism syndrome and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations is TOP2B (DNA Topoisomerase II Beta). Affiliated tissues include b cells and t cells.