Pathogenesis, Diagnosis, and Management of Primary Antibody Deficiencies and Infections

Abstract

SUMMARY Primary antibody deficiencies are the most common primary immunodeficiency diseases. They are a heterogeneous group of disorders with various degrees of dysfunctional antibody production resulting from a disruption of B-cell differentiation at different stages. While there has been tremendous recent progress in the understanding of some of these disorders, the etiology remains unknown for the majority of patients. As there is a large spectrum of underlying defects, the age at presentation varies widely, and the clinical manifestations range from an almost complete absence of B cells and serum immunoglobulins to selectively impaired antibody responses to specific antigens with normal total serum immunoglobulin concentrations. However, all of these disorders share an increased susceptibility to infections, affecting predominantly the respiratory tract. A delay of appropriate treatment for some diseases can result in serious complications related to infections, while timely diagnosis and adequate therapy can significantly decrease morbidity and increase life expectancy and quality of life.

Bajo índice de sospecha para deficiencia de anticuerpos en niños sometidos a procedimientos quirúrgicos de Otorrinolaringología

“…La presentación habitual de los defectos de anticuerpos es después de los 6 meses de vida con infecciones recurrentes de las vías respiratorias causadas por bacterias encapsuladas, así como infecciones enterovirales, con hipogammaglobulinemia profunda y células B disminuidas o ausentes. 8 Algunas manifestaciones asociadas incluyen neutropenia, tejido linfoide ausente o no palpable, atopia, autoinmunidad, enfermedad granulomatosa y cáncer colorrectal. 9 Otras inmunodeficiencias primarias que pueden cursar con infecciones respiratorias de repetición incluyen los defectos de la fagocitosis y las inmunodeficiencias combinadas.…”

Celiac And Inflammatory Bowel Diseases In Children With Primary Humoral Immunodeficiency

“…The diagnosis of IgAD is based on low level (often below detection) of IgA, normal or compensatory high level of IgG, normal level of IgM in child older than 4 years of life. In this defect the majority of affected children (70-80%) is asymptomatic [6,7]. The remaining (20-30%) IgAD patients suffer from recurrent infections, allergies and autoimmune diseases.…”

“…The criteria of CVID include hypogammaglobulinemia (IgG only or IgG and IgA, IgM), low production of specific antibodies in response to vaccination and, in reasonable amount of patients, disorders of cellular response e.g. low number of T cells, reverse CD4:CD8 ratio, low response of T lymphocytes to stimulation in vitro [7,12,[17][18][19][20]. The hypogammaglobulinemia is a result of deregulation of B-cell differentiation process and disturbances of T-cell regulatory function [18].…”

“…1:400 in Finland, 1:600 in USA and 1:15000 children in Japan. The environmental factors, diet and food type, climate are suggested as explanation for this wide range of IgAD frequency [6][7][8]. The diagnosis of IgAD is based on low level (often below detection) of IgA, normal or compensatory high level of IgG, normal level of IgM in child older than 4 years of life.…”

Primary Immunodeficiency Diseases in Latin America: Epidemiology and Perspectives

“…Thus, is recommended research and education in PID, since the prognosis of many patients can be improved by early diagnosis and appropriate access to care and treatment (Bonilla et al, 2005;Turvey & Bonilla, 2009). In medical terms, there are three important reasons for understanding the PID, first, a high index of suspicion and early diagnosis may lead to treatments that save lives or bring significant improvement in quality of life, secondly the discovery of genetic defects in immunity makes possible family counseling and prenatal diagnosis, and thirdly, the study of the pathophysiology of genetic and immunological defects provides important tools to understanding the regulation of the human immune system (Bustamante et al, 2008b;Casanova et al, 2008;Lee & Lau, 2009;Fried & Bonilla, 2009). In recent decades, no other field of immunology had so much progress in understanding how pathophysiology of primary immunodeficiencies.…”