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IgG Subclass and Anti-polysaccharide Antibody Deficiency

  • Esther de Vries
Chapter
Part of the Rare Diseases of the Immune System book series (RDIS)

Abstract

Of all primary immunodeficiencies, predominantly antibody deficiencies (PADs) form the largest group. Within this group, clinical severity as well as the results of immunological laboratory investigations and potential underlying pathophysiology may differ greatly. Milder forms of PAD are often grouped together as hypogammaglobulinemia; this can be found at any age; however, the clinical significance may differ in different age groups. In some children, immunoglobulin production matures more slowly, resulting in so-called transient hypogammaglobulinemia of infancy. Milder hypogammaglobulinemia patients are often missed, because of lack of awareness and—even when immunologically screened—incomplete investigations. Patients generally present with recurrent “normal” ENT and airway infections. Chronic fatigue is seen in many patients, leading to decreased life quality and less societal participation. In general, combinations of abnormal laboratory results seem to be associated with more symptoms and more sequelae. It is currently unknown how the different forms of milder hypogammaglobulinemia arise.

Keywords

Hypogammaglobulinemia IgG subclass deficiency Specific antibody deficiency Anti-polysaccharide antibody deficiency Selective IgM deficiency Transient hypogammaglobulinemia of infancy 

References

  1. 1.
    Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015;35:727–38.CrossRefGoogle Scholar
  2. 2.
    Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarström L, Nonoyama S, Quinti I, Routes JM, Tang ML, Warnatz K. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. J Allergy Clin Immunol Pract. 2016;4:38–59.CrossRefGoogle Scholar
  3. 3.
  4. 4.
    Ochs HD, Stiehm ER, Winkelstein JA, et al. Antibody deficiencies. In: Ochs HD, Stiehm ER, Winkelstein JA, editors. Immunologic disorders in infants and children. 5th ed. Philadelphia: Elsevier; 2004.Google Scholar
  5. 5.
  6. 6.
    Palmeira P, Quinello C, Silveira-Lessa AL, Zago CA, Carneiro-Sampaio M. IgG placental transfer in healthy and pathological pregnancies. Clin Dev Immunol. 2012;2012:985646.CrossRefGoogle Scholar
  7. 7.
    Johansson SG, Berg T. Immunoglobulin levels in healthy children. Acta Paediatr Scand. 1967;56:572.CrossRefGoogle Scholar
  8. 8.
    Keles S, Artac H, Kara R, Gokturk B, Ozen A, Reisli I. Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: ‘similarities and differences’. Pediatr Allergy Immunol. 2010;21:843–51.CrossRefGoogle Scholar
  9. 9.
    de Vries E. Clinical Working Party of the European Society for Immunodeficiencies (ESID) (2006) Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin Exp Immunol. 145:204–14.CrossRefGoogle Scholar
  10. 10.
    Stiehm ER. The four most common pediatric immunodeficiencies. J Immunotoxicol. 2008;5:227–34.CrossRefGoogle Scholar
  11. 11.
    Perez E, Bonilla FA, Orange JS, Ballow M. Specific antibody deficiency: controversies in diagnosis and management. Front Immunol. 2017;8:586.CrossRefGoogle Scholar
  12. 12.
    Janssen LM, Macken T, Creemers MC, Pruijt JF, Eijk JJ, de Vries E. Truly selective primary IgM deficiency is probably very rare. Clin Exp Immunol. 2017;6  https://doi.org/10.1111/cei.13065.CrossRefGoogle Scholar
  13. 13.
    Kobrynski L, Powell RW, Bowen S. Prevalence and morbidity of primary. immunodeficiency diseases, United States 2001-2007. J Clin Immunol. 2014;34:954–61.CrossRefGoogle Scholar
  14. 14.
    Schatorjé EJ, Gathmann B, van Hout RW, de Vries E, PedPAD consortium. The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database. Clin Exp Immunol. 2014;176:387–93.CrossRefGoogle Scholar
  15. 15.
    Cheng YK, Decker PA, O'Byrne MM, Weiler CR. Clinical and laboratory characteristics of 75 patients with specific polysaccharide antibody deficiency syndrome. Ann Allergy Asthma Immunol. 2006;97:306–11.CrossRefGoogle Scholar
  16. 16.
    Aghamohammadi A, Sedighipour L, Saeed SE, Kouhkan A, Heydarzadeh M, Pourpak Z. Alterations in humoral immunity in relatives of patients with common variable immunodeficiency. J Investig Allergol Clin Immunol. 2008;18:266–71.PubMedGoogle Scholar
  17. 17.
    Barton JC, Bertoli LF, Barton JC, Acton RT. Fibromyalgia in 300 adult index patients with primary immunodeficiency. Clin Exp Rheumatol. 2017;105(Suppl):68–73.Google Scholar
  18. 18.
    Tavakol M, Kouhi A, Abolhassani H, Ghajar A, Afarideh M, Shahinpour S, Aghamohammadi A. Otological findings in pediatric patients with hypogammaglobulinemia. Iran. J Allergy Asthma Immunol. 2014;13:166–73.Google Scholar
  19. 19.
    Chiarella SE, Grammer LC. Immune deficiency in chronic rhinosinusitis: screening and treatment. Expert Rev Clin Immunol. 2017;13:117–23.CrossRefGoogle Scholar
  20. 20.
    Ruffner MA, Aksamit TR, Thomashow B, Choate R, DiMango A, Turino GM, O'Donnell AE, Johnson MM, Olivier KN, Fennelly K, Daley CL, Winthrop KL, Metersky ML, Salathe MA, Knowles MR, Daniels MLA, Noone PG, Tino G, Griffith DE, Sullivan KE. Frequency of untreated hypogammaglobulinemia in bronchiectasis. Ann Allergy Asthma Immunol. 2017;119:83–5.CrossRefGoogle Scholar
  21. 21.
    Schatorjé EJ, de Jong E, van Hout RW, García Vivas Y, de Vries E. The challenge of Immunoglobulin-G subclass deficiency and specific polysaccharide antibody deficiency—a Dutch Pediatric Cohort Study. J Clin Immunol. 2016;36:141–8.CrossRefGoogle Scholar
  22. 22.
    Maarschalk-Ellerbroek LJ, Hoepelman AI, van Montfrans JM, Ellerbroek PM. The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital. J Clin Immunol. 2012;32:907–21.CrossRefGoogle Scholar
  23. 23.
    De Vries E, Driessen G. Educational paper: primary immunodeficiencies in children: a diagnostic challenge. Eur J Pediatr. 2011;170:169–77.CrossRefGoogle Scholar
  24. 24.
    Schatorjé E, van der Flier M, Seppänen M, Browning M, Morsheimer M, Henriet S, Neves JF, Vinh DC, Alsina L, Grumach A, Soler-Palacin P, Boyce T, Celmeli F, Goudouris E, Hayman G, Herriot R, Förster-Waldl E, Seidel M, Simons A, de vries E. Primary immunodeficiency associated with chromosomal aberration—an ESID survey. Orphanet J Rare Dis. 2016;11:110.CrossRefGoogle Scholar
  25. 25.
    Driessen G, van der Burg M. Educational paper: primary antibody deficiencies. Eur J Pediatr. 2011;170:693–702.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of TranzoTilburg School of Social and Behavioral Sciences, Tilburg UniversityTilburgThe Netherlands
  2. 2.Laboratory for Medical Microbiology and ImmunologyElisabeth Tweesteden HospitalTilburgThe Netherlands

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