X-linked agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered by Ogden Bruton in 1952. It is often characterized by the body's inability to produce sufficient antibodies to fight off infections.
Pronunciation
X-linked agammaglobulinemia is pronounced as eks-linkt a-gamma-glob-u-lin-e-mia.
Etymology
The term "X-linked agammaglobulinemia" is derived from its genetic nature and the condition it causes. "X-linked" refers to the gene mutation being on the X chromosome, "a-" is a prefix meaning "without," "gammaglobulin" refers to a class of proteins in the blood, to which antibodies belong, and "-emia" is a suffix meaning "condition of the blood."
Symptoms
Patients with XLA typically present with recurrent bacterial infections from around 6 months of age, when maternal IgG antibodies are depleted. Common infections include otitis media, pneumonia, sinusitis, and septicemia.
Cause
XLA is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene, which plays a crucial role in the development of B cells in the immune system. This mutation leads to a severe reduction or absence of B cells, resulting in a decreased production of immunoglobulins or antibodies.
Diagnosis
Diagnosis of XLA is typically made based on clinical presentation, family history, and laboratory findings. The most definitive diagnostic test is the identification of a mutation in the BTK gene.
Treatment
Treatment for XLA primarily involves immunoglobulin replacement therapy, which provides the missing antibodies to the patient. Antibiotics are also used to treat and prevent infections.
Prognosis
With early diagnosis and appropriate treatment, individuals with XLA can lead healthy lives. However, they must remain on immunoglobulin replacement therapy and be monitored for potential complications.
See also
External links
- Medical encyclopedia article on X-linked agammaglobulinemia
- Wikipedia's article - X-linked agammaglobulinemia
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