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Book

Agammaglobulinemia

Mutahera Mazhar, Muhammad Waseem  1
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Agammaglobulinemia

Mutahera Mazhar et al.
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Excerpt

Agammaglobulinemia or hypogammaglobulinemia is a rare inherited immunodeficiency disorder. It is characterized by low or absent mature B cells, which can result in severe antibody deficiency and recurrent infections. It can manifest in an infant as soon as the protective effect of maternal immunoglobulins wanes at around six months of age.

Agammaglobulinemia is comprised of the following types:

  1. X-linked agammaglobulinemia (XLA), discovered in 1952 by Dr. Ogden Bruton.

  2. X-linked agammaglobulinemia with growth hormone deficiency

  3. Autosomal recessive agammaglobulinemia (ARAG)

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Conflict of interest statement

Disclosure: Mutahera Mazhar declares no relevant financial relationships with ineligible companies.

Disclosure: Muhammad Waseem declares no relevant financial relationships with ineligible companies.

References

    1. Sanford E, Farnaes L, Batalov S, Bainbridge M, Laubach S, Worthen HM, Tokita M, Kingsmore SF, Bradley J. Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing. Cold Spring Harb Mol Case Stud. 2018 Dec;4(6) - PMC - PubMed
    1. BRUTON OC. Agammaglobulinemia. Pediatrics. 1952 Jun;9(6):722-8. - PubMed
    1. Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 1993 Jan 21;361(6409):226-33. - PubMed
    1. Doğruel D, Serbes M, Şaşihüseyinoğlu AŞ, Yılmaz M, Altıntaş DU, Bişgin A. Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene. Allergol Immunopathol (Madr) 2019 Jan-Feb;47(1):24-31. - PubMed
    1. Carey B, Lambourne J, Porter S, Hodgson T. Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. Oral Dis. 2019 Apr;25(3):684-692. - PubMed

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