User:Mr. Ibrahem/X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is a genetic disorder that affects the body's ability to fight infection. Those affected typically present around 6 months of age with recurrent bacterial infections including pneumonia, middle ear infections, cellulitis, diarrhea, and conjunctivitis. Other symptoms include a lack of tonsils and no lymph nodes. Complications can include bronchiectasis and cancer.

Its is caused by various mutations of the Bruton's tyrosine kinase (Btk) gene and is inherited in an X-linked recessive manner. The underlying mechanism involves an inability to form mature B cells, and thus the inability to make antibodies. It is a type of primary immunodeficiency disorder. Diagnosis is usually based on low immunoglobulins and B cells in the blood and can be confirmed by genetic testing.

There is no cure. Treatment is generally with immunoglobulin therapy either through a vein (IVIG) or subcutaneously (SCIG). When infections do occur, longer courses of antibiotics are generally required. Long-term antibiotics may also be used to try to prevent infections. Those affected should receive all vaccines except live vaccines. Treatment is required for survival and with treatment survival is generally beyond the age of 40.

XLA affects about 1 in 100,000 live newborn males. It was described by Ogden Bruton in 1952 and was the first known primary immunodeficiency disorder. Effective treatment became available in the 1970s; however, is often costly.