Primary immunodeficiency association with systemic lupus erythematosus: review of literature and lessons learned by the Rheumatology Division of a tertiary university hospital at São Paulo, Brazil.
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.
Department of Immunology, Institute of Biomedical Sciences, Universidade de São Paulo (USP), São Paulo, SP, Brazil; Department of Medicine, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
Paolo Ruggero
PR
Errante
Department of Medicine, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
Sandro Félix
SF
Perazzio
Department of Immunology, Institute of Biomedical Sciences, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
Josias Brito
JB
Frazão
Department of Medicine, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
Neusa Pereira
NP
da Silva
Department of Medicine, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address: luis.andrade@unifesp.br.
Luis Eduardo Coelho
LE
Andrade
D001938:Brazil; D003165:Complement System Proteins / Q000172:deficiency*; D006785:Hospitals, University; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology* / Q000503:physiopathology*; D008180:Lupus Erythematosus, Systemic / Q000276:immunology*; D012189:Retrospective Studies; D012219:Rheumatology
D003165:Complement System Proteins
Antibodies deficiency; Autoimmune disease; Deficiência de anticorpos; Doença autoimune; Imunodeficiência primária; Lúpus eritematoso sistêmico; Primary immunodeficiency; Systemic lupus erythematosus