Agammaglobulinemia, primary

 

Overview

Characterized by the attack of antibodies known as gammaglobulins (responsible for defending the body from infection), leaving those affected very susceptible to illnesses, which then progress aggressively and are more likely to prove deadly.  Subtypes include the more common Bruton agammaglobulinemia, which is linked to the male X gene and thus found exclusively in males, and the autosomal recessive type, only occasionally affecting females.

Common Symptoms

Serial bacterial infections (including frequent bronchitis episodes), chronic diarrhea, conjunctivitis, otitis media, pneumonia, sinusitis, skin infections, and upper respiratory tract infections.

Coexisting Diseases and Conditions

Severe arthritis (in children if infected by mycoplasma bacteria), serial bacterial infections (due to failed immune responses of defective B-lymphocytes), dermatomyositis, and pre-existing autoimmune diseases.

Risk Factors and Prevalence

Male sex and genetic factors.

Sources

  1. Article Sources and Footnotes

    1. Mazhar M, Waseem M. Agammaglobulinemia. [Updated 2021 Feb 10]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK555941/.

    2. Naeim, F., Song, S. X., Phan, R. T., & Rao, P. N. (2018). Atlas of hematopathology: morphology, immunophenotype, cytogenetics, and molecular approaches. Academic Press/Elsevier.

    3. NORD (National Organization for Rare Disorders). (n.d.). Agammaglobulinemia. NORD (National Organization for Rare Disorders). https://rarediseases.org/rare-diseases/agammaglobulinemia/#:~:text=Primary%20Agammaglobulinemia%20is%20a%20rare,certain%20types%20of%20this%20disorder. 

    4. U.S. National Library of Medicine. (n.d.). Agammaglobulinemia: MedlinePlus Medical Encyclopedia. MedlinePlus. https://medlineplus.gov/ency/article/001307.htm.