Bruton-Gitlin syndrome
Related people
Congenital mild form of Swiss-type agammaglobulinaemia with decreased quantity of gamma fraction of serum globulin. It is characterized by susceptibility to bacterial but not to viral infections and symptoms similar to those seen in rheumatoid arthritis. There is combined B-cell and T-cell deficiency, lymphopenia and recurrent respiratory and skin infections from the 2nd month of life. Inheritance is X-linked. In type III growth hormone deficiency is observed. The disease is a defect in the gene coding for Bruton's tyrosine kinase, a cell signalling molecule necessary for B-cell growth and development.
Bibliography
- O. C. Bruton:
Agammaglobulinemia. Pediatrics, Evanston, Illinois,1952, 9: 722-728. - D. Gitlin, J. M. Craig:
The thymus and other lymphoid tissues in congenital agammaglobulinemia.
Pediatrics, Evanston, Illinois, 1963, 32: 517-530.
What is an eponym?
An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.What is Whonamedit?
Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.Disclaimer:
Whonamedit? does not give medical advice.This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.