Agammaglobulinemia

immunoloji-17-1-2024

Yasemin AKGÜL BALABANa , Sait YEŞİLLİKa
aUniversity of Health Sciences Gülhane Training and Research Hospital, Clinic of Immunology and Allergy Diseases, Ankara, Türkiye

Akgül Balaban Y, Yeşillik S. Agammaglobulinemia. Çölkesen F, ed. Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.10-5.

ABSTRACT
Agammaglobulinemia is a rare primary immunodeficiency disorder characterized by the absence of circulating immunoglobulin-producing B cells, resulting in severe antibody deficiency and recurrent infections. The first described and most commonly known form is X-linked agammaglobulinemia (Bruton’s disease), but there are 3 other forms. Defects in B cell development are responsible for its pathogenesis. Clinically, patients usually present with recurrent infections. The cornerstone of treatment is immunoglobulin replacement therapy (IgRT). There are studies showing that IgRT greatly reduces morbidity and mortality. In addition to IgRT, patients may require prophylactic antibiotics. Hematopoietic cell transplantation and/or stem cell gene studies may also be considered as an alternative treatment option.

Keywords: Agammaglobulinemia; bruton; primary immunodeficiency

Referanslar

  1. Sanford E, Farnaes L, Batalov S, Bainbridge M, Laubach S, Worthen HM, et al. 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;4(6):a003244. [Crossref]  [PubMed]  [PMC]
  2. Fischer A. Primary Immune Deficiency Diseases. In: Jameson JL, Fauci AS, Kasper DL, Hauser SL, Longo DL, Loscalzo J, eds. Harrison's Principles Of Internal Medicine 20th ed. USA: McGraw-Hill Education; 2018. p.2488-98.
  3. Ochs HD, Smith CI. X-linked agammaglobulinemia. A clinical and molecular analysis. Medicine (Baltimore). 1996;75(6):287-99. [Crossref]  [PubMed]
  4. Conley ME, Rohrer J, Minegishi Y. X-linked agammaglobulinemia. Clin Rev Allergy Immunol. 2000;19(2):183-204. [Crossref]  [PubMed]
  5. Ochs HD, Stiehm ER, Winkelstein JA. Antibody deficiencies. In: Stiehm ER, Ochs HD, Winkelstein JA, eds. Immmunologic disorders in infants and children. 5th ed. Philadelphia: Elsevier/Sanders; 2004. p.356.
  6. Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore). 2006;85(4):193-202. [Crossref]  [PubMed]
  7. Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine (Baltimore) 1985;64(3):145-56. [Crossref]
  8. Plebani A, Soresina A, Rondelli R, Amato GM, Azzari C, Cardinale F, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol. 2002;104(3):221-30. [Crossref]  [PubMed]  [PMC]
  9. Mazhar M, Waseem M. Agammaglobulinemia. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023.
  10. Cardenas-Morales M, Hernandez-Trujillo VP. Agammaglobulinemia: from X-linked to Autosomal Forms of Disease. Clin Rev Allergy Immunol. 2022; 63(1):22-35. [Crossref]  [PubMed]  [PMC]
  11. El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, et al. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. 2019; 12(3):100018. [Crossref]  [PubMed]  [PMC]
  12. Bruton OC. Agammaglobulinemia. Pediatrics. 1952;9(6):722-8. [Crossref]  [PubMed]
  13. Goldman L, Schafer AI, eds. Unal S, çeviri editörü. Goldman's Cecil Medicine 24. Baskı. Ankara: Güneş Tıp Kitabevleri; 2015. p.1615-22.
  14. Hernandez-Trujillo VP. Agammaglobulinemia. UpToDate [Internet]. [cited: July 10, 2023]. Available from: [Link]
  15. Oshiro TM, da Silva LT, Ortega MM, Perazzio SF, Duarte AJDS, Carneiro-Sampaio M. Patient with agammaglobulinemia produces anti-SARS-CoV-2 reactive T-cells after CoronaVac vaccine. Clinics (Sao Paulo). 2022;77: 100007. [Crossref]  [PubMed]  [PMC]
  16. Bagheri Y, Vosughi A, Azizi G, Yazdani R, Kiaee F, Hafezi N, et al. Comparison of clinical and immunological features and mortality in common variable immunodeficiency and agammaglobulinemia patients. Immunol Lett. 2019; 210:55-62. [Crossref]  [PubMed]
  17. Hashimoto S, Miyawaki T, Futatani T, Kanegane H, Usui K, Nukiwa T, et al. Atypical X-linked agammaglobulinemia diagnosed in three adults. Intern Med. 1999;38(9):722-5. [Crossref]  [PubMed]
  18. O'Toole D, Groth D, Wright H, Bonilla FA, Fuleihan RL, Cunningham-Rundles C, et al. X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry. J Clin Immunol. 2022; 42(4):827-36. [Crossref]  [PubMed]  [PMC]
  19. Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol. 2009;27:199-227. [Crossref]  [PubMed]
  20. 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;47(1):24-31. [Crossref]  [PubMed]
  21. Hermaszewski RA, Webster AD. Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. Q J Med. 1993;86(1):31-42.
  22. Quartier P, Debré M, De Blic J, de Sauverzac R, Sayegh N, Jabado N, et al Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients. J Pediatr. 1999;134(5):589-96. [Crossref]  [PubMed]
  23. Howard V, Greene JM, Pahwa S, Winkelstein JA, Boyle JM, Kocak M, et al. The health status and quality of life of adults with X-linked agammaglobulinemia. Clin Immunol. 2006;118(2-3):201-8. [Crossref]  [PubMed]
  24. Fekrvand S, Yazdani R, Olbrich P, Azizi G, Shirzadi R, Modaresi M, et al. Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia. Pediatr Allergy Immunol. 2020; 31(4):405-17. [Crossref]  [PubMed]
  25. Wright PF, Hatch MH, Kasselberg AG, Lowry SP, Wadlington WB, Karzon DT. Vaccine-associated poliomyelitis in a child with sex-linked agammaglobulinemia. J Pediatr. 1977;91(3):408-12. [Crossref]  [PubMed]
  26. Berlucchi M, Soresina A, Redaelli De Zinis LO, Valetti L, Valotti R, Lougaris V, et al. Sensorineural hearing loss in primary antibody deficiency disorders. J Pediatr. 2008;153(2):293-6. [Crossref]  [PubMed]
  27. Hunter HL, McKenna KE, Edgar JD. Eczema and X-linked agammaglobulinaemia. Clin Exp Dermatol. 2008;33(2):148-50. [Crossref]  [PubMed]
  28. Gompels MM, Hodges E, Lock RJ, Angus B, White H, Larkin A, et al. Lymphoproliferative disease in antibody deficiency: a multi-centre study. Clin Exp Immunol. 2003;134(2):314-20. [Crossref]  [PubMed]  [PMC]
  29. Lavilla P, Gil A, Rodríguez MC, Dupla ML, Pintado V, Fontán G. X-linked agammaglobulinemia and gastric adenocarcinoma. Cancer. 1993; 72(5):1528-31. [Crossref]  [PubMed]
  30. Bachmeyer C, Monge M, Cazier A, Le Deist F, de Saint Basile G, Durandy A, et al. Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemia. Eur J Gastroenterol Hepatol. 2000;12(9):1033-5. [Crossref]  [PubMed]
  31. van der Meer JW, Weening RS, Schellekens PT, van Munster IP, Nagengast FM. Colorectal cancer in patients with X-linked agammaglobulinaemia. Lancet. 1993;341(8858):1439-40. [Crossref]  [PubMed]
  32. Brosens LA, Tytgat KM, Morsink FH, Sinke RJ, Ten Berge IJ, Giardiello FM, et al. Multiple colorectal neoplasms in X-linked agammaglobulinemia. Clin Gastroenterol Hepatol. 2008;6(1):115-9. [Crossref]  [PubMed]
  33. Echave-Sustaeta JM, Villena V, Verdugo M, López-Encuentra A, de Agustín P, Alberti N. X-linked agammaglobulinaemia and squamous lung cancer. Eur Respir J. 2001;17(3):570-2. [Crossref]  [PubMed]
  34. Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C, Ochs HD, Bonilla FA, Paris K, et al. Autoimmunity and inflammation in X-linked agammaglobulinemia. J Clin Immunol. 2014;34(6):627-32. [Crossref]  [PubMed]  [PMC]
  35. Yamamoto H, Ishimura M, Ochiai M, Takada H, Kusuhara K, Nakatsu Y, et al. BTK gene targeting by homologous recombination using a helper-dependent adenovirus/adeno-associated virus hybrid vector. Gene Ther. 2016; 23(2):205-13. [Crossref]  [PubMed]
  36. Sawada A, Takihara Y, Kim JY, Matsuda-Hashii Y, Tokimasa S, Fujisaki H, et al. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J Clin Invest. 2003;112(11):1707-13. [Crossref]  [PubMed]  [PMC]
  37. Abolhassani H, Parvaneh N, Rezaei N, Hammarström L, Aghamohammadi A. Genetic defects in B-cell development and their clinical consequences. J Investig Allergol Clin Immunol. 2014;24(1):6-22.
  38. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473-507. [Crossref]  [PubMed]  [PMC]
  39. Kubota K, Kim JY, Sawada A, Tokimasa S, Fujisaki H, Matsuda-Hashii Y, et al. LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins. FEBS Lett. 2004;564(1-2):147-52. [Crossref]  [PubMed]
  40. Boisson B, Wang YD, Bosompem A, Ma CS, Lim A, Kochetkov T, et al. A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. J Clin Invest. 2013;123(11):4781-5. [Crossref]  [PubMed]  [PMC]
  41. Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, et al. Mutations in topoisomerase IIβ result in a B cell immunodeficiency. Nat Commun. 2019;10(1):3644. [Crossref]  [PubMed]  [PMC]
  42. Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M. An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett. 1994; 346(2-3):165-70. [Crossref]  [PubMed]