Common Variable Immunodeficiency and autoimmunity in two teenagers brothers in Bogotá

Abstract

Event Abstract Back to Event Common Variable Immunodeficiency and autoimmunity in two teenagers brothers in Bogotá CARLOS E. OLMOS1* and CATALINA GOMEZ PARADA1 1 Cayre IPS y Fundacion, Colombia Introduction: Common variable immunodeficiency (CVID) is the primary immunodeficiency most frequently identified in the clinical practice. Clinically, it is defined as the presence of recurrent infections, reduction in IgG serum (at least 2 standard deviations before the reference values for the subject’s age), at least another one of the Ig (IgA or IgM), and a reduction or absence of the production of antibody. The clinical spectrum include multiple recurrent respiratory infections, systemic bacterial infections, gastrointestinal complications, and autoimmunity. We report two cases of CVID occurring in siblings with infectious and autoimmunity manifestations early in school age. Case report: Male adolescents from Tolima, Colombia, diagnosed with CVID after 6 years of the onset of symptoms. The first brother was diagnosed at the 12 years of age with a history of severe insulin-depend diabetes mellitus since the age of two years associated to severe respiratory infections with multiple hospital admissions including sinusitis, otitis media, and complicated pneumonias with bronchiectasis, chronic conjunctivitis, gastroenteropathy, and lymphadenopathies with hypogammaglobulinemia G and M and specific antibody deficiency. The second patient was diagnosed at the 14 years of age after a history of recurrent moderate respiratory infections and frequent diarrheal illness since the age of 6 with development of pernicious anemia, hyperparathyroidism with clinical rickets, detection of hypogammaglobulinemia G and M, and specific antibody deficiency. Both patients are being treated with monthly intravenous immunoglobulin G [IVIG] replacement, vitamin B12 and D, additional nutritional support and multidisciplinary management. Discussion: The CVID is usually a sporadic and non-monogenic condition. The presentation in two brothers with recurrent bacterial and viral infections, autoimmunity and gastroenteropathy point us to a Mendelian susceptibility. This report also demonstrates the difficulty of diagnosing early CVID based only on the traditional alert signs such as recurrent infections. Autoimmunity manifestations should alert on additional signs suggesting CVID. References • Javier Chinen, MD, PhD,a Luigi D. Notarangelo, MD,b and William T. Shearer, MD, PhDa. Advances in basic and clinical immunology in 2014 J Allergy Clin Immunol 2015;135:1132-41. • Karakoc-Aydiner E, AO Ozen, Baris S, Ercan H, Ozdemir C, Barlan IB. Alteration in Humoral Immunity Is Common Among Family Members of Patients With Common Variable Immunodeficiency. J Investig Allergol Clin Immunol 2014; Vol. 24(5): 346-351. • Xiao X, et al, Common variable immunodeficiency and autoimmunity – an inconvenient truth, Autoimmun Rev (2014). • Jolles S. The variable in common variable immunodeficiency: a disease of complex phenotypes. J Allergy Clin Immunol Pract 2013; 1:545–56. • Ochs HD. Common variable immunodeficiency (CVID): new genetic insight and unanswered questions. British Society for Immunology, Clinical and Experimental Immunology, 178: 5–6. Keywords: Common variable immunodeficiency (CVID), hypogammaglobulinemia, Autoimmunity, recurrent respiratory infections, Pernicious anemia Conference: IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología, Medellin, Colombia, 13 Oct - 16 Oct, 2015. Presentation Type: Poster Presentation Topic: Immunodeficiencies Citation: OLMOS CE and GOMEZ PARADA C (2015). Common Variable Immunodeficiency and autoimmunity in two teenagers brothers in Bogotá. Front. Immunol. Conference Abstract: IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología. doi: 10.3389/conf.fimmu.2015.05.00131 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 02 Jun 2015; Published Online: 14 Sep 2015. * Correspondence: Dr. CARLOS E OLMOS, Cayre IPS y Fundacion, Bogota, Colombia, colmos.8600@gmail.com Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. 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