Associação de imunodeficiência primária com lúpus eritematoso sistêmico: revisão da literatura e as lições aprendidas pela Divisão de Reumatologia de um hospital universitário terciário em São Paulo

Abstract

Primary immunodeficiency disorders (PID) represent a heterogeneous group of diseases resulting from inherited defects in the development, maturation and normal function of immune cells; thus, turning individuals susceptible to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (AIDs), in special systemic lupus erythematosus (SLE) which arose associated to the course of PID, are described. Classically, the literature describes three groups of PID associated with SLE: (1) deficiency of Complement pathway components, (2) defects in immunoglobulin synthesis, and (3) chronic granulomatous disease (CGD). Currently, other PID have been described with clinical manifestation of SLE, such as Wiskott-Aldrich syndrome (WAS), autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), autoimmune lymphoproliferative syndrome (ALPS) and idiopathic CD4(+) lymphocytopenia. Also we present findings from an adult cohort from the outpatient clinic of the Rheumatology Division of Universidade Federal de São Paulo. The PID manifestations found by our study group were considered mild in terms of severity of infections and mortality in early life. Thus, it is possible that some immunodeficiency states are compatible with survival regarding infectious susceptibility; however these states might represent a strong predisposing factor for the development of immune disorders like those observed in SLE.

Diagnostic and therapeutic challenges of EBV-positive mucocutaneous ulcer: a case report and systematic review of the literature

“…It is interesting that in both of these cases of primary immunodeficiency-associated EBVMCU, individuals had an underlying autoimmune disorder. Primary immunodeficiency has an established association with autoimmune disorders [ 67 ], including systemic lupus erythematosus [ 68 ] and type I diabetes mellitus [ 69 ], as well as lymphoproliferative disorders [ 70 ]. However, it is unclear whether a causal relationship exists between immunodeficiency and autoimmunity in these two individuals.…”

Care demands experienced by family caregivers of children with Primary Immunodeficiency

“…Secondary manifestations such as infections, autoimmune and oncological diseases are present in the affected children. Most of the time, diagnosis occurs in childhood, and causes, in addition to infectious conditions, repercussions such as delayed linear growth, poor response to routinely used antibiotics, increased frequency and duration of hospitalizations and mortality (1)(2) .…”

Granuloma Annulare: a Review of the Literature

“…Little is known about the pathogenesis of GA lesions, but a number of studies have linked its expression to the presence of the histocompatibility genes (HLA)-Bw35 or AH8.1 allele (BERETTA-PICCOLI et al, 2018;COHEN;CARLOS, 2015). These genes appear to be linked to an increase in TNF-α production by blood mononuclear cells from patients who are carriers (BERETTA-PICCOLI et al, 2018;ERRICHETTI et al, 2017;KEIMING, 2015).…”