Espectro de las inmunodeficiencias primarias en un hospital de tercer nivel en un periodo de 10 años

Abstract

The vast majority of patients included in this series presented with typical clinical features; therefore, basic knowledge of these entities in primary care and collaboration with hospital referral centres should allow a large number of PID in children to be diagnosed at an early stage, leading to proper treatment and monitoring, and therefore improvement of patient prognosis.

Primary immunodeficiency in infection-prone children in southern Sweden: occurrence, clinical characteristics and immunological findings

“…We identified eight patients with CVID, which is fewer than expected from previously published studies [37]. CVID is usually diagnosed in the second or third decade of life, but conform to a recent study 33.7% of CVID patients present before the age of 10 years [38], and there is a described earlier peak of diagnosis at approximately age 8 years [39].…”

Common Variable Immune Deficiency in Children—Clinical Characteristics Varies Depending on Defect in Peripheral B Cell Maturation

“…The characteristic immunologic defect is an ineffective differentiation of B-lymphocytes into memory cells [7, 8] and further into plasma cells capable of secreting all immunoglobulin types [9, 10]. CVID is usually diagnosed in second or third decade of life, but a variable proportion of children presenting with antibody deficiency (AD) develop CVID during the follow-up time [11–13]. The diagnosis in children is particularly difficult due to immunologic immaturity and the persistence of transient hypogammaglobulinemia of infancy in some children.…”

Survival analysis of hematopoietic stem cell transplantation in children with primary immunodeficiency in Spain

“…They are characterised by a poor response to infectious agents, leading to recurrent infection and a greater prevalence of autoimmune manifestations, allergies, and lymphoproliferative disorders. 1 Around 60% of these diseases are diagnosed during childhood. 1 The current classification of the International Union of Immunology Societies defines 8 groups of PIDs: combined T-and B-cell immunodeficiencies; predominantly antibody deficiencies; diseases of immune dysregulation; defects of phagocyte number, function, or both; defects in innate immunity; complement disorders; autoinflammatory disorders; and other well-defined immunodeficiency syndromes.…”

“…1 The current classification of the International Union of Immunology Societies defines 8 groups of PIDs: combined T-and B-cell immunodeficiencies; predominantly antibody deficiencies; diseases of immune dysregulation; defects of phagocyte number, function, or both; defects in innate immunity; complement disorders; autoinflammatory disorders; and other well-defined immunodeficiency syndromes. 1,2 The clinical manifestations of PIDs are broad in scope, and the following are the main warning signs that an immunodeficiency should be suspected: recurrent infections (more than 8 new episodes of otitis media within a year; more than 2 pneumonias confirmed radiologically within a year; more than 2 episodes of sinusitis within a year; more than 2 deep-tissue infections or infections in unusual locations within a year; recurrent deep skin infections or abscesses; infection by unusual or opportunistic organisms; 2 or more episodes of meningitis or severe infection); failure to gain weight or grow normally; recurrent autoimmune phenomena; thrush in mouth or fungal infection of the skin in patients older than one year; dysmorphic features related to frequent infections; infection after vaccination with live virus vaccines; delayed umbilical cord separation; recurrent mouth sores; fever with suspected periodicity; and unexplained bronchiectases.…”