IgA deficiente / IgA deficiency

El déficit selectivo de IgA se define como la ausencia parcial o total de IgA en el suero, con cifras normales en el resto de las inmunoglobulinas. Se presentó una paciente femenina de 1 año y 7 meses, de padres no consanguíneos, con antecedentes familiares negativos para enfermedades genéticas o defectos congénitos, e IgA deficiente. Los estudios inmunológicos mostraron un gran déficit de IgA, de ahí que el diagnóstico se definió como una inmunodeficiencia congénita, por déficit selectiva de IgA o inmunodeficiencia variable común (trastorno genético producto de una herencia monogénica); para lo cual se le realiza una cuantificación de la subclase de IgG y así determinar si es una mutación en un mismo gen defectuoso. La paciente evolucionó satisfactoriamente con los tratamientos recibidos; los valores de IgA permanecieron nulos, no siendo así con el resto de las inmunoglobulinas.

Selective IgA deficiency is defined as the partial or total absence of IgA in the serum, but normal levels in the rest of the immunoglobulins. We present a female patient aged 1 year and 7 months, of non-consanguineous parents, who had a negative family pathological history for genetic diseases or congenital defects and IgA deficiency. Immunological studies showed a high IgA deficiency, hence the diagnosis was defined as congenital immunodeficiency due to selective IgA deficiency or common variable immunodeficiency (genetic disorder resulting from monogenic inheritance); a quantification of the IgG subclass was also performed in order to determine if it was a mutation in the same defective gene. The patient evolved satisfactorily with the treatments received; the IgA values remained null, but this was not the case with the rest of the immunoglobulins.

Deficiencia de IgA y comorbilidades autoinmunes en la artritis idiopática juvenil / IgA deficiency and autoimmune comorbidities in juvenile idiopathic arthritis

Objetivos: 1) Describir la prevalencia de deficiencia de IgA (DIgA), uveítis, enfermedad celiaca (EC) y alteraciones tiroideas en una cohorte multicéntrica de pacientes diagnosticados de artritis idiopática juvenil (AIJ), y 2) evaluar si los pacientes con AIJ y DIgA presentan otras enfermedades autoinmunes con más frecuencia que los pacientes con niveles normales de IgA. Métodos: Estudio retrospectivo de una cohorte de pacientes con AIJ en seguimiento en unidades de Reumatología pediátrica en 2 hospitales de Madrid (España). Resultados: Se incluyó a 193 pacientes, de los cuales 123 eran mujeres (64%). La edad media al inicio fue 5,6 años (RIC 2,5-9,7) y la mediana de seguimiento 5,1 años (RIC 2,2-8,1). Las 3 categorías ILAR más frecuentes fueron oligoarticular (53%), poliarticular con factor reumatoide negativo (20%) y artritis relacionada con entesitis (10%). Los niveles séricos de IgA estaban disponibles en 172/193 (89%); 25/172 (15%) tenían DIgA, selectiva (< 7mg/dl, n=8) o parcial (7-69mg/dl, n=17). Todos los pacientes tuvieron revisiones oftalmológicas periódicas. Tuvieron uveítis anterior 18 pacientes (9%), 15/18 crónica y 3/18 aguda. Los niveles séricos de antitransglutaminasa IgA (o IgG en pacientes con DIgA) fueron obtenidos en 135/193 (70%); 4 pacientes (3%) fueron diagnosticados de EC por biopsia (n=3) o por criterios clínicos, serológicos o genéticos (n=1); 2 de ellos tenían DIgA (p=0,12; OR=6,4; IC del 95%, 0,9-47,6). Solo 1/153 (0,7%) tuvo hipertirotropinemia con anticuerpos antitiroideos positivos y requirió tratamiento. Conclusión: Los pacientes con AIJ presentan comorbilidades autoinmunes con frecuencia. La DIgA no parece aumentar su prevalencia, con la posible excepción de la EC. (AU)

Objectives: (1) To describe the prevalence of IgA deficiency (IgAD), uveitis, coeliac disease (CD) and thyroid disorders in a multicentre cohort of patients with juvenile idiopathic arthritis (JIA), and (2) to assess whether patients with JIA and IgAD have additional autoimmune disorders more frequently than patients with JIA and normal serum levels of IgA. Methods: Retrospective chart review of a cohort of patients with JIA managed in the paediatric rheumatology units of 2hospitals in Madrid, Spain. Results: This study included 193 patients, 123 (64%) female. The median age at disease onset was 5.6 years (IQR 2.5–9.7) and the median duration of followup was 5.1 years (IQR 2.2–8.1). The 3most common categories of JIA based on the ILAR classification were oligoarticular (53%), poliartritis RF-negative (20%) and enthesitis-related arthritis (10%). Serum IgA levels were available in 172/193 (89%); 25/172 (15%) had selective (<7mg/dl, n=8) or partial (7-69mg/dl, n=17) IgAD. All patients underwent periodic ophthalmic examinations. Eighteen children (9%) had anterior uveitis, which was chronic in 15 and acute in 3. Serum levels of anti-transglutaminase IgA, or IgG in IgAD were obtained in 135/193 (70%). Four children (3%) were diagnosed with CD either by intestinal biopsy (n=3) or by the combination of characteristic clinical, serological and genetic features (n=1); 2of them had IgAD (OR=6.4; 95% CI, 0.9–47.6; p=.12). Only 1 of these 153 patients (0.7%) had hyperthyrotropinaemia with positive anti-thyroid antibodies and required replacement therapy. Conclusion: Patients with JIA frequently present autoimmune comorbidities. IgAD does not seem to increase their prevalence, with the possible exception of CD. (AU)

IgA deficiency and autoimmune comorbidities in Juvenile Idiopathic Arthritis.

OBJECTIVES: (1) To describe the prevalence of IgA deficiency (IgAD), uveitis, coeliac disease (CD) and thyroid disorders in a multicentric cohort of patients diagnosed with JIA and, (2) to evaluate whether patients with JIA and IgAD present other autoimmune diseases more frequently than patients with normal serum levels of IgA. METHODS: Retrospective chart review of a cohort of patients diagnosed with JIA followed at the paediatric rheumatology units of two hospitals in Madrid, Spain. RESULTS: A total of 193 patients were included. Of them, 123 were females (64%). Median age at disease onset was 5.6 years (IQR 2.5-9.7) and the median time of follow-up was 5.1 years (IQR 2.2-8.1). The three most common ILAR categories were oligoarticular (53%), polyarticular RF negative (20%) and enthesitis related arthritis (10%). Serum IgA levels were available in 172/193 (89%); 25/172 (15%) had selective (<7mg/dl, n=8) or partial (7-69mg/dl, n=17) IgAD. All the patients had periodic eye exams. Eighteen children (9%) had anterior uveitis, 15/18 chronic and 3/18 acute. Serum anti transglutaminase IgA, or IgG in IgAD were obtained in 135/193 (70%). Four children (3%) were diagnosed with CD either by intestinal biopsy (n=3) or by the combination of characteristic clinical, serological and genetic features (n=1); two of them had IgAD (p=0.12; OR=6.4; 95% CI 0.9-47.6). Only 1/153 (0.7%) patient had hyperthyrotropinemia with positive anti-thyroid antibodies and required replacement therapy. CONCLUSION: Patients with JIA frequently present autoimmune comorbidities. IgAD does not seem to increase their prevalence, with the possible exception of CD.

Serum immunoglobulin a deficiency and autoimmune comorbidities: a crossectional study in 281 patients with systemic lupus erythematosus

SUMMARY OBJECTIVE To study the profile of associated autoimmune diseases in a series of patients with systemic lupus erythematosus (SLE) and see if such associations are linked to IgA deficiency. METHODS Two hundred eighty-one patients with SLE were studied for Ig A levels by nephelometry. Levels equal to or under 0.05g/dL were considered as IgA deficiency. Epidemiological and clinical data, including the presence of associated autoimmune diseases, were extracted from the patient's charts. RESULTS Ig A deficiency was found in 6% of the patients. In 30.2% of SLE patients, there was at least one more autoimmune disease; Hashimoto thyroiditis and Sjögren's syndrome were the most common. No association between the occurrence of associated autoimmune disease with IgA deficiency was found. CONCLUSIONS There is a high prevalence of autoimmune diseases associated with SLE. IgA deficiency does not affect the presence of these associations.

RESUMO OBJETIVO Estudar o perfil de doenças autoimunes associadas em uma série de pacientes com lúpus eritematoso sistêmico (LES) e verificar se tais associações estão ligadas à deficiência de imunoglobulina (Ig) A. MÉTODOS Foram estudados 281 pacientes com LES para os níveis de IgA por nefelometria. Níveis iguais ou menores que 0,05 g/dL foram considerados como deficiência dessa imunoglobulina. Dados epidemiológicos e clínicos, incluindo a presença de doenças autoimunes associadas, foram extraídos dos prontuários dos pacientes. RESULTADOS A deficiência de IgA foi encontrada em 6% dos pacientes. Em 30,2% dos pacientes com LES encontrou-se a presença de, pelo menos, mais uma doença autoimune. Tireoidite de Hashimoto e síndrome de Sjögren foram as mais comuns. Não foi possível ligar a ocorrência de uma doença autoimune associada ao LES com deficiência de IgA. CONCLUSÕES Existe uma alta prevalência de doenças autoimunes associadas ao LES. A deficiência de IgA não afeta a presença dessas associações.

Deficiencia selectiva de inmunoglobulina A: manifestaciones clínicas, hallazgos de laboratorio y diagnóstico preciso / Selective Immunoglobulin A deficiency: clinical manifestations, laboratory findings and accurate diagnosis

Resumen La inmunoglobulina A (IgA) es el isotipo de anticuerpo más abundante en los humanos y fundamentalmente participa en la defensa contra las infecciones y el desarrollo de la tolerancia inmune en las mucosas. La deficiencia de IgA es la inmunodeficiencia más frecuente en humanos, pero comúnmente es asintomática y transitoria. Para diagnosticarla, se cuantifica la concentración de IgA en sangre y se evalúa la magnitud de su disminución. De acuerdo con esta evaluación se clasifica en deficiencia parcial (DPIgA) o deficiencia total (DTIgA). Adicionalmente, si solo se afectan los niveles de IgA sin alteraciones de otras inmunoglobulinas séricas como IgM e IgG o subclases de inmunoglobulina G, entonces se denomina como deficiencia selectiva de IgA (DSIgA). La deficiencia selectiva de IgA es de mayor relevancia clínica y considerada un error innato de la inmunidad, aunque su etiología aún es desconocida y clínicamente se asocia a infecciones de los tractos respiratorio y gastrointestinal, alergias y manifestaciones autoinmunes. Se realizó una búsqueda de artículos científicos en PubMed, Scopus, SciELO y Redalyc sobre la deficiencia selectiva de inmunoglobulina A, con el objetivo de realizar una revisión temática sobre las manifestaciones clínicas, el diagnóstico y el adecuado manejo clínico de los pacientes con esta inmunodeficiencia. Se propone un nuevo algoritmo clínico con el objetivo de mejorar el diagnóstico y brindar un adecuado manejo clínico de los pacientes con esta inmunodeficiencia. Un paciente con deficiencia selectiva de IgA se caracteriza por infecciones recurrentes de los tractos gastrointestinal y respiratorio, en asociación con manifestaciones alérgicas y autoinmunes en individuos mayores de cuatro años, con niveles de IgA sérica menores de 7 mg/dL y con niveles normales de IgG e IgM, y en quienes se hayan descartado defectos relacionados con los linfocitos T u otras causas de hipogammaglobulinemia. Con respecto al manejo clínico, se deben ajustar los esquemas de vacunación e implementar profilaxis antibiótica en las infecciones graves y recurrentes. Para mejorar el pronóstico se debe realizar una atención del paciente por un equipo médico interdisciplinario y un seguimiento continuo por un prolongado periodo de tiempo.

Abstract Immunoglobulin A (IgA) is the most abundant antibody isotype in humans and participates in protection against infections and the development of immune tolerance in mucous membranes. IgA deficiency is the most common immunodeficiency in humans, but it is commonly asymptomatic and transient. To diagnose it, the concentration of IgA in blood is quantified and the magnitude of its decrease is evaluated. According to this evaluation, it is classified as partial deficiency (DPIgA) or total deficiency (DTIgA). Additionally, if only IgA levels are affected without alterations in other serum immunoglobulins such as IgM and IgG or subclasses of IgG, then it is referred to as selective IgA deficiency (DSIgA). Selective IgA deficiency is of greater clinical relevance and considered an innate immunity error, although its etiology is still unknown. This immunodeficiency is clinically associated with respiratory and gas- trointestinal tract infections, allergies and autoimmune manifestations. A search of scientific articles was conducted in bibliographic databases PubMed, Scopus, SciELO and Redalyc on selective immunoglobulin A deficiency. Our objective was to perform a review on clinical manifestations, diagnosis, and appropriate clinical management of patients with this immunodeficiency. A new clinical algorithm is proposed in order to improve the diagnosis and provide adequate clinical management of patients with this immunodeficiency. A patient with selective IgA deficiency is characterized by recurrent infections of the gastrointestinal and respiratory tracts, in association with allergic and autoimmune manifestations in individuals older than four years. Serum IgA levels are less than 7 mg/dL, with normal levels of IgG and IgM, and defects related to T lymphocytes or other causes of hypogammaglobulinemia have been ruled out. Regarding clinical management, vaccination schedules should be adjusted and antibiotic prophylaxis should be implemented in severe and recurrent infections. Additionally, to improve prognosis, patient care should be performed by an interdisciplinary medical team and continuous monitoring for a prolonged period of time.

Resecciones multiviscerales en el tratamiento quirúrgico de las recaídas locoregionales de cirugía de rectosigma. Factibilidad, complicaciones y resultados oncológicos / Multivisceral resections in the surgical treatment of locoregional relapses of rectosigma surgery. Feasibility, complications and oncologic results

Las inmunodeficiencias primarias (IDP) son enfermedades de baja prevalencia. Existen signos de alarma para su sospecha clínica. Los objetivos fueron describir características clínicas y signos de alarma de pacientes con IDP y comparar diferencias clínicas entre déficit selectivo de inmunoglobulina A (IgA) y otras IDP. Se estudiaron 89 pacientes, con mediana de edad, al momento del diagnóstico, de 6 años (4,08-11,67). 53 (59,5%) pacientes, varones. 54 (60,7%) pacientes, con déficit selectivo de IgA, y 35 (39,3%), con otras IDP. Las principales manifestaciones clínicas fueron rinofaringitis en 65 (73,03%) pacientes y atopia en 39 (43,82%) pacientes. Presentaron signos de alarma 24 (26,97%) pacientes, ninguno con déficit selectivo de IgA. En los pacientes con otras IDP, se observó mayor incidencia de infección respiratoria baja, sepsis, infecciones cutáneas, candidiasis mucocutánea, alteraciones dentales, malformaciones cardiovasculares, angioedema, internaciones y mortalidad. 10 (28,57%) pacientes recibieron gammaglobulina endovenosa; 15 (42,85%), antibiótico-profilaxis; y 2 (2,24%), antimicóticoprofilaxis. Palabras clave: infecciones respiratorias, hipersensibilidad, gammaglobulinas, síndromes de inmunodeficiencia, deficiencia de IgA. (AU)

Primary immunodeficiencies (PID) are low-prevalence diseases. There are warning signs that may raise clinical suspicion. The objectives of this study were to describe the clinical characteristics and warning signs of patients with PID and to compare the clinical differences between selective immunoglobulin A (IgA) deficiency and other PIDs. Eighty-nine patients were studied; their median age at the time of diagnosis was 6 years old (4.08-11.67). Fifty-three (59.5%) patients were male. Fifty-four (60.7%) patients had selective IgA deficiency, and 35 (39.3%) had other PIDs. The main clinical manifestations were rhinopharyngitis in 65 (73.03%) patients and atopy in 39 (43.82%). Twenty- four (26.97%) patients showed warning signs, and none had selective IgA deficiency. Patients with other PIDs had a higher incidence of lower respiratory tract infection, sepsis, skin infections, mucocutaneous candidiasis, dental alterations, cardiovascular malformations, angioedema, hospitalizations and death. Ten (28.57%) patients received intravenous gammaglobulin, 15 (42.85%) antibiotic prophylaxis, and 2 (2.24%) antifungal prophylaxis. (AU)

Estudio inmunológico en pacientes con dermatitis atópica e infección en piel por Staphylococcus aureus / Immunological atudy in patients with atopic dermatitis and skin infection by Staphylococcus aureus

Fundamento: la dermatitis atópica es una enfermedad crónica de la piel, recurrente, caracterizada por lesiones inflamatorias en ubicaciones típicas. Intervienen en su patogenia y evolución múltiples factores, algunos relacionados con el sistema inmune y las infecciones por Staphylococcus aureus, el cual se puede aislar en el 90 por ciento de estos enfermos.Objetivo: describir las alteraciones en parámetros humorales y celulares relacionados con la inmunidad en sujetos con diagnóstico de dermatitis atópica, atendidos en el Hospital General Docente Dr. Ernesto Guevara de la Serna, Las Tunas, desde enero de 2013 a julio de 2014.Métodos: se realizó un estudio transversal con 19 pacientes mayores de un año de edad, remitidos a la consulta de inmunología del referido hospital, con diagnóstico establecido de la entidad, infección en piel por Staphylococcus aureus recidivante de difícil tratamiento y sospecha de inmunodeficiencia; además del interrogatorio, la revisión de historias clínicas y el examen físico, se indicaron complementarios para determinar el estado de variables inmunitarias.Resultados: la edad que predominó fue la comprendida entre 5 y 10 años. Los resultados de los estudios inmunológicos realizados mostraron que 89,4 por ciento de los pacientes cursó con eosinofilia, mientras que 78,9 por ciento tuvo la IgE aumentada. Se encontró un incremento de la IgG en 68,4 por ciento de los casos y el 21,0 por ciento presentó disminución de la IgA. En dos pacientes, en los que se encontró deficiencia fagocítica, también hubo infección por Aspergillus. En ningún caso aparecieron alteraciones en el sistema complemento.Conclusiones: además de los indicadores típicos de atopia, la deficiencia de IgA fue la alteración inmunitaria más frecuente en los individuos estudiados (AU)

Background: atopic dermatitis is a recurrent chronic disease of the skin, characterized by inflammatory lesions in typical locations. Multiple factors are part of its pathogenesis and evolution; some of them are related to the immune system and to infections by Staphylococcus aureus, which was isolated in 90 percent of the patients. Objective: to determine the alterations in humoral and cellular parameters related to immunity in subjects diagnosed with atopic dermatitis.Methods: a cross-sectional study was carried out in 19 patients older than 1 year of age who attended the immunology service at Dr. Ernesto Guevara Hospital in Las Tunas, Cuba, with an established diagnosis of atopic dermatitis, skin infection by Staphylococcus aureus, recurrent and non-respondent to treatment, as well as being suspected to have immunodeficiency; besides the interview, health history analysis and physical examination, laboratory tests were ordered to determine the status of immune variables.Results: the prevailing age was between 5 and 10 years old. Immune lab tests showed that 89,4 percent of patients had eosinophilia, while 78,9 percent had increased levels of IgE. Higher than normal levels of IgG were found in 68,4 percent of the cases and 21 percent showed a diminishment in IgA. In two patients who had a phagocytic deficiency, they were also infected by Aspergillus. No alterations in the complement system were found in any case.Conclusions: besides the typical markers of atopy, IgA deficiency was the most frequent immune disturbance found in the patients included in the sample (AU)

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. .

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

INTRODUCTION: Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recurrent infections, atopy and autoimmune diseases. However, to our knowledge, the concomitant evaluations of autoimmune diseases and autoantibodies in a cohort of IgAD patients with current age > 10 years-old and their relatives have not been assessed. OBJECTIVES: To evaluate autoimmune diseases and the presence of autoantibodies in IgAD patients and their first-degree relatives. METHODS: A cross-sectional study was performed in 34 IgAD patients (current age > 10 years-old) and their first-degree relatives. All of them were followed at a tertiary Brazilian primary immunodeficiency center: 27 children/adolescents and 7 of their first-degree relatives with a late diagnosis of IgAD. Autoimmune diseases and autoantibodies (antinuclear antibodies, rheumatoid factor, and anti-thyroglobulin, anti-thyroperoxidase and IgA class anti-endomysial antibodies) were also assessed. RESULTS: Autoimmune diseases (n=14) and/or autoantibodies (n=10, four of them with isolated autoantibodies) were observed in 18/34 (53%) of the patients and their relatives. The most 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 were observed in the female gender, age at diagnosis and current age in IgAD patients with and without autoimmune diseases and/or presence of autoantibodies (p>0.05). The frequencies of primary immunodeficiency's in family, autoimmunity in family, atopy and recurrent infections were similar in both groups (p>0.05). CONCLUSION: Autoimmune diseases and autoantibodies were observed in IgAD patients during follow-up, reinforcing the necessity of a rigorous and continuous follow-up during adolescence and adulthood.

El impacto social y económico de la ozonoterapia en la deficiencia de inmunoglobulina A / The social and economic impact of ozone therapy in immunoglobulin A deficiency

La concepción social de la ciencia y el desarrollo tecnocientífico de la medicina en Cuba se abordan en este artículo a través del enfoque social de la ozonoterapia en la deficiencia de inmunoglobulina A. Se enfatiza en el papel determinante del contexto social en la aplicación de la ciencia y la tecnología. Se describen los aportes sociales, económicos y científicos de la terapia con ozono en esta enfermedad inmunológica y se demuestra como el desarrollo tecnocientífico de la medicina cubana ha permitido realizar la investigación clínica. La terapia con ozono tuvo gran impacto en la salud de los niños deficientes de Immunoglobulin A lo que representa un fuerte beneficio social (AU)

The social conception of science and techno-scientific development of medicine in Cuba addressed in this article through the social approach of ozone therapy in immunoglobulin A deficiency. It is emphasized the crucial role of social context in the application of science and technology. Social, economic and scientific contributions of ozone therapy in this immunologic disease are described and it is shown how the scientific development of Cuban medicine has allowed clinical research. Ozone therapy had great impact on the children´s health with IgA deficiency which represents a strong social benefit (AU)

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.

Caracterização imunofenotípica de linfócitos B de memória na deficiência de IgA e imunodeficiência comum variável / Immunophenotypical characterization of memory B Iymphocytes in IgA deficiency and common variable immunodeficiency

Objetivo: A progressão da deficiência de IgA (DIgA) para imunodeficiência comum variável (ICV) tem sido relatada, embora não constitua regra geral. Postula-se que a associação com doenças autoimunes (DAIs) constitua fator de risco para tal progressão. Embora a fisiopatologia da ICV não esteja esclarecida, a redução de células B de memória class-switched (CD27+IgG-IgM-) tem sido relacionada a sua maior associação com autoimunidade. Por outro lado, na DIgA a persistência de células B imaturas IgM+ IgD+ foi associada à progressão para ICV. O objetivo foi comparar em pacientes com DIgA e ICV populações de células B de memória e correlacionar estas populações celulares à presença de DAIs em ambos grupos. Métodos: O estudo incluiu 56 pacientes adultos com DIgA ou ICV igualmente distribuídos em 4 grupos de acordo com a presença ou ausência de DAIs. As seguintes subpopulações de células B foram determinadas por citometria de fluxo de quatro cores: células B naive (CD19+IgM+), células B de memória c/ass-switched (CD27+IgM-IgD-) e células B de memória imaturas (CD27+IgM+ ou CD27+IgD+). Resultados: Os valores de células B naive e de células de memória c1ass-switched foram similares nos quatro grupos estudados. Os pacientes com DIgA ou ICV e DAIs associadas apresentaram valores igualmente aumentados de células B de memória imaturas CD27+IgM+ e CD27+IgD+ quando comparados a pacientes sem autoimunidade. Conclusões: Neste estudo foi demonstrado pela primeira vez persistência de células B de memória imaturas em pacientes adultos com DIgA e ICV associadas a doenças autoimunes. Especula-se se a persistência destas células possa constituir fator de risco para a progressão de DIgA para ICV.

Objective: Progression from IgA deficiency (IgAD) to common variable immunodeficiency (CVID) has been reported in some patients, but is not a general rule. It is postulated if association with autoimmune diseases (AIDs) could be risk factor for such progression. While the pathophysiology of CVID remains elusive, decreased numbers of classic (class-switched) memory B cells (CD27+IgG-IgM-) was correlated with increased rates of autoimmune features. By other hand, persistence of immature B cells (IgM+ IgD+) in IgA deficiency patients was correlated to progression from DIgA to CVID. The aim of this study was to compare memory B cell subpopulations in IgAD and CVID patients, and to assess the relationship between these populations and the presence of autoimmune diseases in both group of patients. Methods: This study included 56 adult patients with IgAD or CVID distributed in four groups according to the presence or absence of AIDs. The following B cell populations were determined by lymphocyte immunophenotyping by four-colour flow cytometry: narve B cells (CD19+IgM+), c1ass-switched memory B cells (CD27+IgM-IgD-) and immature B memory cells (CD27+IgM+ or CD27+IgD+). Results: Naive B cell and c1ass-switched memory B cells (CD27+IgG-IgM-) numbers were similar in all groups studied. IgAD and CVID patients with associated AIDs presented higher values of immature B cells (CD27 IgM+ and CD27+ IgD+) than patients without associated AIDs. Conclusions: This study reported for the first time the persistence of immature memory B cells in adult IgAD and CVID patients associated to autoimmune diseases. We speculate if persistence of immature B cells may constitute a rlsk factor for progression of IgAD to CVID.