Doenças autoimunes e autoanticorpos em pacientes pediátricos e seus parentes de primeiro grau com deficiência de imunoglobulina / Autoimmune diseases and autoantibodies in pediatric patients and their first-degree relatives with immunoglobulin A deficiency

Introdução: As manifestações clínicas da deficiência de imunoglobulina A (DIgA) incluem infecções recorrentes, atopia e doenças autoimunes. No entanto, para o nosso conhecimento, as avaliações concomitantes de doenças autoimunes e autoanticorpos em uma coorte de pacientes com DIgA com idade atual > 10 anos e seus parentes não foram feitas. Objetivos: Avaliar doenças autoimunes e presença de autoanticorpos em pacientes com DIgA e seus parentes de primeiro grau. Métodos: Estudo transversal feito em 34 pacientes com DIgA (idade atual > 10 anos) e em seus parentes de primeiro grau. Todos foram acompanhados em um centro terciário brasileiro para imunodeficiência primária: 27 crianças/adolescentes e sete de seus parentes de primeiro grau com diagnóstico tardio de DIgA. Doenças autoimunes e autoanticorpos (anticorpos antinucleares, fator reumatoide e antitireoglobulina, antitiroperoxidase e anticorpos antiendomísio da classe IgA) também foram avaliadas. Resultados: Doenças autoimunes (n = 14) e/ou autoanticorpos (n = 10, quatro deles com autoanticorpos isolados) foram observadas em 18/34 (53%) dos pacientes e seus parentes. As doenças autoimunes mais comuns encontradas foram tireoidite (18%), artrite crônica (12%) e doença celíaca (6%). Os autoanticorpos mais frequentes foram anticorpos antinucleares (2%), antitireoglobulina e/ou antitireoperoxidase (24%). Nenhuma diferença significativa foi observada no sexo feminino, idade no momento do diagnóstico e idade atual em pacientes com DIgA com e sem doenças autoimunes e/ou presença de autoanticorpos (p > 0,05). As frequências de imunodeficiência de primárias na família, autoimunidade em família, atopia e infecções recorrentes foram semelhantes em ambos os grupos (p> 0,05). Conclusão: Doenças autoimunes e autoanticorpos foram observadas em pacientes com DIgA durante o acompanhamento, o que reforça a necessidade de um acompanhamento rigoroso e contínuo durante a adolescência e a idade adulta. .

Introduction: Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recur-rent infections, atopy and autoimmune diseases. However, to our knowledge, theconcomitant evaluations of autoimmune diseases and auto antibodies in a cohort of IgADpatients with current age >10 years and their relatives have not been assessed. Objectives: To evaluate autoimmune diseases and the presence of auto antibodies in IgADpatients and their first-degree relatives. Methods: A cross-sectional study was performed in 34 IgAD patients (current age >10years) and their first-degree relatives. All of them were followed at a tertiary Brazilianprimary immunodeficiency center: 27 children/adolescents and 7 of their first-degree rela-tives with a late diagnosis of IgAD. Autoimmune diseases and autoantibodies (antinuclearantibodies, rheumatoid factor, and anti-thyroglobulin, anti-thyroperoxidase and IgA classanti-endomysial antibodies) were also assessed. Results: Autoimmune diseases (n = 14) and/or autoantibodies (n = 10, four of them with iso-lated autoantibodies) were observed in 18/34 (53%) of the patients and their relatives. Themost common autoimmune diseases found were thyroiditis (18%), chronic arthritis (12%)and celiac disease (6%). The most frequent autoantibodies were antinuclear antibodies(2%), anti-thyroglobulin and/or anti-thyroperoxidase (24%). No significant differences wereobserved in the female gender, age at diagnosis and current age in IgAD patients with andwithout autoimmune diseases and/or presence of auto antibodies (p > 0.05). The frequen-cies of primary immunodeficiencies in family, autoimmunity in family, atopy and recurrentinfections were similar in both groups (p > 0.05). Conclusion: Autoimmune diseases and auto antibodies were observed in IgAD patients dur-ing follow-up, reinforcing the necessity of a rigorous and continuous follow-up duringadolescence and adulthood. .

Calidad de vida relacionada a salud de niños con deficiencia de IgA sérica respecto de pacientes con otra patología crónica como asma y controles sanos / Health related quality of life from children with serum IgA deficiency compared with other chronic conditions as asthma and healthy controls

Introducción. la calidad de vida relacionada a sakud (CVRS) permite evaluar el bienestar y la capacidad para realizar actividades a partir de la propia percepción individual influenciada por el estado salud-enfermedad. Las patologías crónicas inciden fuertemente en ella. Existen numerosos métodos para evaluarla tanto para niños como para sus padres/cuidadores...

Introduction. health related quality of Life (HRQOL) allows assessment of the well-being and ability to perform activitties from individual perception itself influeced by the health-disease state. Chronic diseases impact strongly about it There are numerous methods to evaluante for both children and their parents/caregivers...

Prevalência de deficiência de IgA em pacientes adultos com lúpus eritematoso sistêmico e estudo de sua associação com perfil clínico e de autoanticorpos / Prevalence of IgA deficiency in adult systemic lupus erythematosus and the study of the association with its clinical and autoantibody profiles

INTRODUÇÃO: A deficiência de imunoglobulina A (DIgA) é a imunodeficiência primária mais comum e pode levar a quadros frequentes de infecções. Sua associação com lúpus eritematoso sistêmico (LES) é de extrema importância, dada a alta morbidade e mortalidade que as infecções causam nestes pacientes. OBJETIVOS: Demonstrar a prevalência da deficiência de IgA entre pacientes portadores de LES do sul do Brasil. Comparar o perfil clínico e de autoanticorpos entre pacientes lúpicos com e sem DIgA. PACIENTES E MÉTODOS: Estudo incluindo 189 pacientes com LES submetidos à dosagem sérica de IgA pelo método de nefelometria, sendo considerados deficientes aqueles com IgA inferior à 50 mg/dL. Dados demográficos, de perfil clínico [artrite, psicoses, convulsões, acidentes vasculares encefálicos (AVE), serosites, hemólise, leucopenia, plaquetopenia, nefrite] e de autoanticorpos [FAN, anti-SSA/Ro, anti-SSB/La, anti-Sm, anti-DNA, anti-RNP, LAC (anticoagulante lúpico) e aCL (anticorpos anticardiolipina)] IgG e IgM foram obtidos pela revisão de prontuários. Como controle, foram utilizados dados da literatura de um estudo feito na mesma área geográfica. Os dados foram analisados por tabelas de frequência e contingência aplicando-se os testes de Qui-quadrado, Fisher e Mann-Whitney. RESULTADOS: Foram encontrados 11 (6,17 por cento) pacientes com a DIgA (P < 0,001 em relação ao controle). O perfil clínico e de autoanticorpos dos pacientes com DIgA não foi diferente daquele dos pacientes sem essa deficiência. CONCLUSÃO: Pacientes com LES têm maior prevalência de DIgA que a população controle. A presença de DIgA em pacientes com LES não parece conferir qualquer particularidade clínica ou laboratorial aos mesmos.

INTRODUCTION: IgA deficiency (IgAD) is the most common primary immunodeficiency, which can cause frequent infections. The association of IgA deficiency with systemic lupus erythematosus (SLE) is very important because of the high morbidity and mortality rates of infections in patients with this disease. OBJECTIVES: To study the prevalence of IgA deficiency in SLE patients from southern Brazil and to compare the clinical and autoantibody profiles of SLE patients with and without IgA deficiency. PATIENTS AND METHODS: One hundred and eighty-nine SLE patients were submitted to serum IgA measurement by nephelometry. Levels of IgA below 50mg/dL were considered to be IgAD. Demographic data, clinical profile (presence of arthritis, psychosis, seizures, stroke, serositis, hemolytic anemia, leucopenia, thrombocytopenia, and nephritis) and autoantibody profiles (ANA, anti-Ro, anti-La, anti-Sm, anti-DNA, anti-RNP, lupus anticoagulant, and anticardiolipin IgG and IgM) were obtained from reviewing medical records. As control, we used literature data from another study performed in the same geographical area. Data were analyzed through contingency and frequency tables, applying the Chi-square, Fisher, and Mann Whitney tests. RESULTS: IgA deficiency was found in 11 (6.17 percent) patients (P < 0.001 in relation to controls). The association between IgA deficiency and clinical or autoantibody profile was not significant. CONCLUSION: We concluded that a higher prevalence of IgA deficiency was observed in lupus patients than in controls. Deficiency of IgA did not have any particular laboratory or clinical effects on this population.

Association of HLA-*08:DRB1*03 with immunoglobulin A-deficiency.

OBJECTIVE: Susceptibility to IgA deficiency (IgAD) is strongly associated with alleles of HLA, but it is not equally strong in different human populations. Therefore, the goal of this study was to determine the HLA-A, -B and -DRB1 antigenic and haplotypic frequencies in unrelated Polish Caucasian IgA-deficient patients who had never been examined so far in this respect. METHODS: The HLA alleles were determined by means of low resolution polymerase chain reaction with sequence specific primers (PCR-SSP) method in a group of IgA-deficient patients and control subjects from the same area. RESULTS: The HLA-DRB1*03 allele showed the strongest association with IgA deficiency in the Polish population (OR=6.6, p cor=0.0084). The HLA-B*08 allele was also associated with predisposition to the disease (OR=6.22, p cor=0.033). These significant associations could be explained in the context of a positive association of IgAD with the HLA-B*08:DRB1*03 haplotype, previously reported in other Caucasoid populations from Northern and Central Europe. In our group the HLA-B*08:DRB1*03 haplotype was present in 52.9% of IgA-deficient patients comparing to 9.9% in controls (p< 0.00011). A positive association of HLA-B*08 and DRB1*03 was stronger in IgA-deficient males than in females from the same group. CONCLUSION: Immunoglobulin A deficiency in Polish population is strongly associated with HLA-B*08:DRB1*03 haplotype rather than with single alleles.

IgA deficiency: a report of three cases from Thailand.

Selective IgA deficiency has been reported to be the most common primary immunodeficiency disease in Western countries. A markedly lower frequency of this condition has been reported in the Japanese population. While most of the IgA deficient cases are healthy, some patients develop significant recurrent sinopulmonary infections, allergic disorders and autoimmune diseases. Herein, we report three cases of IgA deficiency among Thai patients, all of whom suffered from chronic sinopulmonary infections. Two of the three patients had absolute IgA deficiency while the third had a partial IgA deficiency. The associated conditions found in these three patients were deficiencies of an IgG subclass, allergic rhinitis and lupus nephritis. The youngest child (5 years old boy with lupus nephritis) expired from Pneumocystis carrinii pneumonia complicated with adult respiratory distress syndrome.

Inmunología de la IgA y las mucosas / Immunology of IgA and of mucosas

Aunque la relevancia clínica de la IgA en las enfermedades humanas no está completamente elucidada se conoce la gran importancia que desempeña la IgA como sistema de defensa contra las infecciones, tanto para virus y bacterias, como en la autoinmunidad y la alergia. Tiene un papel muy importante en caso de infecciones del tracto respiratorio alto y bajo, como en las amigdalitis, donde se ha demostrado que su presencia es indispensable para la inmunidad local. Existen argumentos en contra de las amigdalectomías, dado que es afectada la respuesta inmune específica de las mucosas y la IgA secretoria disminuye. Además, la amigdalectomía puede agravar aún más las infecciones del tracto respiratorio superior y predisponer a una mayor sensibilización a padecer asma y otras enfermedades alérgicas. El propósito de este artículo es relatar las primeras investigaciones que permitieron el conocimiento de la inmunología de las mucosas y elucidaron la función biológica de la IgA; para analizar desde el punto de vista inmunológico, las repercusiones que tiene para el sistema inmunitario la extirpación de las amígdalas, que es un órgano linfoide secundario

Strongyloidiasis in a patient with IgA deficiency.

With rising frequency of immuno suppression particularly due to use of various immuno suppressive agents and increasing incidence of human immuno deficiency virus infection, incidence of opportunistic infection due to various parasites are also on the rise. Persistent strongyloides stercoralis infection which normally also infects healthy individuals is documented in a case of hypogammaglobulinemia reported in the present paper emphasizing it to be another potential opportunistic infection which one may encounter in near future.