Pérez CM, Alonso RA, Consuegra OA, Acosta TJ, Ruiz RA

Language: Spanish
References: 13
Page: 1-11
PDF size: 185.47 Kb.

ABSTRACT

Introduction: Common variable immunodeficiency (IDVC) is a relatively frequent primary immunodeficiency due to antibody deficiency. It is considered a genetic disorder due to the presence of mutations in genes that code for a particular component of the adaptive immune system. It is characterized by a decrease in serum levels of IgG, IgA and sometimes IgM. The clinical picture is highly variable and four clinical phenotypes are described.
Case presentation: A 16-year-old patient, who presented from the first year of life had high and low respiratory infections, complicated and uncomplicated. There were more than 10 episodes in a year, mainly of bacterial etiology, with multiple admissions and broad-spectrum antimicrobial treatments. Personal and family history of asthma, atopic dermatitis and recurrent eczemas were reported. He also presented gastrointestinal disorders of different causes and milk intolerance. On one occasion, he was admitted for an adenian syndrome, which was interpreted as an infectious mononucleosis. Immunological studies were performed due to a complicated pneumonia finding a decrease in serum IgG levels and a decrease in the CD19 positive lymphocyte population was confirmed by flow cytometry. He was treated with intravenous gammaglobulins with good response.
Conclusions: In the presence of bacterial infections, mainly of bacterial origin, it is important to think about this disease, since diagnosis and timely treatment improve the patient’s quality of life.

REFERENCES

1. de Vries E, Driessen G. Educational peaper: Primary immunodeficiencies in children: a diagnostic challenge. Eur J Pediatr [Internet] 2011;170(2):169-77. Acceso: 22/06/2017. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022152/pdf/431_2010_Article_1358.pdf

2. Bousfiha A, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova J, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol [Internet]. 2013;33(1):1-7. Acceso: 22/06/2017. Disponible en: https://link.springer.com/content/pdf/10.1007%2Fs10875-012-9751-7.pdf

3. Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, et al. International Consensus Document (ICON): Common Variable Immunodeficiency Disorders. The Journal of Allergy and Clinical Immunology in Practice. 2016; 4(1):38-59. Acceso: 22/06/2017. DOI: 10.1016/j.jaip.2015.07.025

4. McCusker C, Warrington R. Primary immunodeficiency. Allergy Asthma Clin Immunol [Internet]. 2011;7(Suppl 1):S11. Acceso: 22/06/2017. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245434/pdf/1710-1492-7-S1-S11.pdf

5. Pecoraro A, Nigro E, Polito R, Monaco M, Scudiero O, Mormile I, et al. Total and high molecular weight adiponectin expression is decreased in patients with common variable immunodeficiency: correlation with ig replacement therapy. Front. Immunol. 2017;8:895.

6. Soldin SJ, Bailey J, Beatey J, Bjorn S, Hicks JM. Pediatric reference ranges for immunoglobulins G, A and M on the Behring nephelometer. Clin Chem. 1996;42:S308.

7. Comans-Bitter WM, de Groot R, van den Beemd R, Neijens HJ, Hop WC, Groeneveld K, et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocytes subpopulations. J Pediatric. 1997,130(3):388-93.

8. Chapel H, Lucas M, Patel S, Lee M, Cunningham-Rundles C, Resnick E, et al. Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. J Allergy Clin Immunol. 2012;130(5):1197-8.e9.

9. Pedini V, Savore I, Danieli M. Facilitated subcutaneous immunoglobulin (fsCig) in Autoimmune Cytopenias Associated with Common variable immunodeficiency. IMAJ. 2017;19:420-3.

10. Giovannetti A, Pierdominici M, Mazzetta F, Marziali M, Renzi C, Mileo AM, et al. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol. 2007;178(6):3932-3943. Acceso: 22/11/2017. DOI: https://doi.org/10.4049/jimmunol.178.6.3932

11. Bateman EA, Ayers L, Sadler R, Lucas M, Roberts C, Woods A, et al. T cell phenotypes in patients with common variable immunodeficiency disorders: Associations with clinical phenotypes in comparison with other groups with recurrent infections. Clin Exp Immunol. 2012;170(2):202-211. Acceso: 22/11/2017. DOI: http://dx.doi.org/10.1111/j.1365-2249.2012.04643.x

12. Marasco C, Venturelli A, Rao L, Vacca A, Carratu M. Management of common variable immunodeficiency by subcutaneous IgG self-administration during pregnancy – a case report. Clinical Case Reports. 2017;5(8):1309-11.

13. Azizi G, Abolhassani H, Asgardoon MH, Alinia T, Yazdani R, Mohammadi J, et al. Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017;13(2):101-15.