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Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2021, Number 3

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Alerg Asma Inmunol Pediatr 2021; 30 (3)

Common variable immunodeficiency, clinical and laboratory diagnosis and common genes

González-Serrano ME, Rodríguez-Alba JC, López-Herrera G

Language: Spanish
References: 34
Page: 91-98
PDF size: 187.87 Kb.


ABSTRACT

Common variable immunodeficiency (CVID) is considered the most frequent primary antibody deficiency. The term CVID was proposed by Charles Janeway and Max Cooper who named as CVID to those antibody deficiencies that do not accomplish with the diagnosis criteria for agammaglobulinemia, Hyper-IgM syndrome, selective defects in IgG subclasses, between others. So, CVID is an exclusion diagnosis in which, many genetic defects have been determined. Such genetic defects affect different cell types apart to the functional defects observed in B cells. The clinical criteria and laboratory tests are critical for CVID diagnosis and for the treatment. This revision is focused in pointing out the clinical characteristics in CVID and the laboratory determinations useful for the diagnosis. Additionally, the most common genetic defects observed in CVID are also reviewed.


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