Inmunological Approaches in Patients with Suspected DiGeorge Syndrome

Event Abstract Back to Event Inmunological Approaches in patients with suspected DiGeorge Syndrome Estefania Vasquez1*, Federico Sierra1, Claudia Trujillo1, Julio Orrego1, Carlos Garces2, 3, 4, Rafael Lince3, 4, 5 and Jose L. Franco1 1 Grupo de Inmunodeficiencias Primarias, Colombia 2 Grupo Pediaciencias -Universidad de Antioquia, Colombia 3 Hospital Pablo Tobon Uribe, Colombia 4 Hospital Universitario San Vicente Fundación, Colombia 5 Clínica CardioVid, Colombia Introduction DiGeorge syndrome (DGS) is considered the most common chromosome deletion syndrome in humans with an estimated prevalence of 1 in 4000 live births. It is characterized for a clinical triad that includes: congenital heart disease, hypocalcemia and primary immunodeficiency. Infections occur mainly in the upper and lower respiratory (otitis media, sinusitis, pneumonia) and gastrointestinal tract (chronic diarrhea). The 85-90% of the patients exhibit microdeletions in chromosome 22q11.2 and FISH is a gold standard method for detection. Using the congenital heart disease as a cardinal clinical sign, we designed a strategy for screening and diagnosis of DGS with emphasis in the immunological evaluation. Methods A systematic literature search of clinically relevant publications on the topic was performed to support consensus recommendations. As limited scientific literature for this complex condition has been published, we considered all clinical experience and scientific evidence available both nationally and internationally. Mostly, evidence levels III or IV were collected (descriptive studies, expert opinions, or both). Results For the immunological evaluation of a DGS patient, the initial approach must consider a detailed anamnesis with emphasis on the past medical and family history. Information about adverse effects to vaccination and frequency, severity, and etiology of infections should be collected. A pedigree must be constructed based on the family medical information. A complete blood count is a first step to evaluate lymphopenia. However, only flow cytometry analysis of peripheral blood (PB) lymphocytes gives information about specific quantitative defects in these cell subpopulations. Functional lymphocyte screening may be considered by measurement of T-cell proliferative responses to mitogen and specific antigens. Parameters of normality for age are already available in the literature to define mild or severe lymphocyte defects. Moreover, diagnostic imaging through chest X-rays is another valuable tool to evaluate thymic shadow, thus T-lymphocyte development. Taking into account all the mentioned tests, the syndrome should be classified as complete or partial (<1% or 95-99% of the cases, respectively) in order to implement differential therapeutic approaches. These include aspects related to patient isolation, prophylaxis for opportunistic infections, use of irradiated blood products, vaccination and immunological reconstitution. Attention should be paid in patients with complete DGS, who require promptly treatment with prophylactic antibiotics, the mandatory use of irradiated blood products and avoidance of live attenuated vaccines. However, these patients must be subjected to timely thymic transplantation to completely restore immune function. Although in patients with partial DGS, expectant management is recommended, a strict immunological follow up must be performed according to a schedule. Regular surveillance of infections, quantitative and functional lymphocyte tests as well as serum immunoglobulins dosage and response to vaccination are included in such a schedule. However, a multidisciplinary care is necessary to detect and prevent long-term complications that must be severe, especially in the cases of complete DGS. At last, we emphasize in the importance of a molecular diagnosis to facilitate familiar genetic counseling and provide epidemiological information about the syndrome. This data are important not only to prevent new familiar cases but also to design public health policies for the proper management of the patients. Conclusions Our work provides consensus recommendations to facilitate early DGS diagnosis, especially in cases of complete disease, that greatly benefit with promptly thymic transplantation as a curative therapy, after appropriated immunological evaluation. This information is also valuable to implement all measurements for the life quality improvement and the prevention/treatment of complications. Continued medical education, multidisciplinary care and timely registration of the cases will validate our strategy and at long term, will further improve patient management. Acknowledgements Acknowledgment. This research was supported by the sustainability strategy of University of Antioquia 2011-2012. Keywords: DiGeorge Syndrome, deletion in 22q11.2, congenital heart disease, immunodeficiency, Thymic aplasia 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: Oral Presentation Topic: Immunodeficiencies Citation: Vasquez E, Sierra F, Trujillo C, Orrego J, Garces C, Lince R and Franco JL (2015). Inmunological Approaches in patients with suspected DiGeorge Syndrome. 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.2015.05.00352 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: 14 May 2015; Published Online: 15 Sep 2015. * Correspondence: MD. Estefania Vasquez, Grupo de Inmunodeficiencias Primarias, Medelllín, Colombia, estefania8719@hotmail.com Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Estefania Vasquez Federico Sierra Claudia Trujillo Julio Orrego Carlos Garces Rafael Lince Jose L Franco Google Estefania Vasquez Federico Sierra Claudia Trujillo Julio Orrego Carlos Garces Rafael Lince Jose L Franco Google Scholar Estefania Vasquez Federico Sierra Claudia Trujillo Julio Orrego Carlos Garces Rafael Lince Jose L Franco PubMed Estefania Vasquez Federico Sierra Claudia Trujillo Julio Orrego Carlos Garces Rafael Lince Jose L Franco Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.