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.

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.

Inmunodeficiencia variable común y déficit selectivo de inmunoglobulina A en pacientes celiacos / Common variable immunodeficiency and selective IgA deficiency in celiac disease patients

La enfermedad celíaca (EC) es una de las enfermedades autoinmunes gastrointestinales que con más frecuencia se asocia a inmunodeficiencias primarias (IDP) como el déficit selectivo de IgA y la inmunodeficiencia variable común (IDVC). A propósito del vínculo entre IDP y celiaquía, se presentan dos pacientes femeninas diagnosticadas como celíacas con formas de presentación diferentes y compromiso inmunonutricional variable. Las bajas concentraciones de inmunoglobulina G (IgG) y la ausencia de IgA fueron los principales hallazgos humorales registrados, no se evidenció compromiso de células B y T, de acuerdo a la cuantificación de subpoblaciones linfoides por citometria de flujo. La intervención nutricional e inmunológica permitió la remisión de las manifestaciones clínicas y la evolución satisfactoria en ambos casos(AU)

Celiac disease (CD) is an autoimmune gastrointestinal disease very often associated with Primary Immunodeficiencies (PID) as selective IgA deficiency and variable immunodeficiency common. About the link between celiac disease IDP, two female patients diagnosed as celiac patients with different forms of presentation and varying commitment immunonutritional presented. Low levels of immunoglobulin G (IgG) and absence of immunoglobulin A (IgA) were the main humoral findings recorded, no commitment of B and T cells, according to the quantification of lymphoid subpopulations by flow cytometry. Nutritional and immunological intervention allowed remission of clinical manifestations and satisfactory outcome in both cases(AU)

Recurrent Intestinal Obstruction in a Patient with Selective IgA Deficiency

A 32 year old woman presented with acute onset of abdominal pain and fever. An urgent computerised tomography (CT) of the whole abdomen showed dilated loop at the terminal ileum in the right lower abdomen with thickening of the wall and oedema. The CT was suggestive of distal small bowel obstruction at the ileum with surrounding wall oedema. Multiple biopsies taken from the terminal ileum and colon on colonoscopy were all unremarkable. She represented oneyear later with a recurrence of intestinal obstruction. CT enteroclysis showed collapse at the distal 3 cm segment of the terminal ileum. There was no associated wall thickening, active inflammatory changes or ileitis. This was suspicious of post-inflammatory change or fibrosis. She was subsequently found to have selective IgA deficiency with recurrent infection in the terminal ileum resulting in intestinal obstruction. In conclusion, selective IgA deficiency should be considered in patients with recurrent intestinal obstruction without anatomical obstructions.

Establishment of ELISA screening method in blood donors with IgA deficiency / 国际检验医学杂志

Objective To establish the enzyme‐linked immuno sorbent assay(ELISA) method for a large‐scale screening of IgA deficiency in blood donors .Methods The indirect ELISA was adopted .The goat anti‐human IgA antibody was coated in microwell plates and labeled by horse radish peroxidase (HRP) as enzyme‐labelled secondary antibody .Results The sensitivity of established ELISA detection method was 0 .1 μg/mL .The intraassay coefficients of variation (CV) for IgA concentrations of 0 .1 ,100 μg/mL were 1 .74% to 3 .49% .The median interassay CV was 3 .48% (range:1 .83% -6 .96% ) .The assay process was 80 min . Conclusion TheELISA detection method is successfully established with high sensitivity ,strong specificity ,timesaving and easy operating and can be used for a large scale screening of Ig A deficiency and establishment of blood donors bank of Ig A deficiency .

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. .

Selective Immunoglobulin A Deficiency in Type 1 Diabetes Mellitus: A Prevalence Study in Western Sicily (Italy)

BACKGROUND: The association between type 1 diabetes and immunoglobulin A deficiency (IgA-D) has long been recognized in many populations. The aim of this study was to assess the prevalence of IgA-D in patients with type 1 diabetes mellitus all coming from a defined geographical area and to investigate the clinical features of these subjects. METHODS: The records of 150 consecutive patients with type 1 diabetes mellitus referred in a period of one year were analyzed. A detailed history was obtained for each patient. Information was collected concerning age, gender, time of onset of diabetes, and presence of other autoimmune diseases. RESULTS: Out of 150 patients with type 1 diabetes, eight (5.3%) had a diagnosis of IgA-D. There were one female and seven male; all these patients were diagnosed by screening: none of them had history of recurrent infections. Autoimmune thyroiditis was coexisting in five patients (62%). Although other associated autoimmune disorders were found in a number of patients, there was no different prevalence rate in IgA deficient patients. CONCLUSION: This study shows the prevalence of IgA-D in Sicilian patients with type 1 diabetes as 5.3% which is much higher than reported in other Italian studies. Moreover, our data show a high prevalence of IgA-D in male gender and describe thyroiditis as the most frequent autoimmune disease present in these patients. Finally, in our case report, IgA-D diagnosis always followed routine IgA measurement when case finding for celiac disease with no history of recurrent infections in each patient.

Características clínicas de pacientes con déficit selectivo de IgA en el hospital infantil municipal de Córdoba, periodo 2010-2013 / Clinical features of patients with selective Iga deficiency In municipal hospital children of Córdoba, period 2010-2013

Introducción: el déficit selectivo de IgA (DsIgA) es la inmunodeficiencia primaria más frecuente, caracterizada por nivelesséricos de inmunoglobulina A (IgA) menores a 7 mg/dl en pacientes mayores a 4 años con niveles normales de otros isotipos de inmunoglobulinas. Aunque la mayoría de los individuos sona sintomáticos, cerca de un tercio padecen infecciones recurrentes, alergia o autoinmunidad. Objetivo: Principal: determinar características clínicas asociadas al DsIgA. Secundario: analizar los valores de inmunoglobulina G (IgG) e inmunoglobulina M (IgM) de los pacientes.Materiales y métodos: Se revisaron en forma retrospectiva registros de laboratorio e historias clínicas de 24 pacientes que cumplieron con los criterios diagnósticos de DsIgA. Resultados: Se observó que 17 pacientes (71%) presentaban fenó-menos alérgicos, 13 pacientes (54%) enfermedades autoinmunes y 7 pacientes (29%) infecciones recurrentes al momento de diagnóstico del DsIgA. Además se pudo ver un aumento de IgG e IgMen un 38% y 46% de los pacientes, respectivamente. Conclusión: Observamos que la principal manifestación clínica fue la alergia, y que un grupo de pacientes tenía elevadas sus inmunoglobulinas séricas.

Introduction: selective IgA deficiency (IgAD) is considered as the most common primary immunodeficiency, is defined as a serum IgA of less than 7mg/dl, with normal serum IgG and IgM levels in patients older than 4 years with other wise normal immune system. Although the majority of affected individuals are asymptomatic, a third of patients are symptomatic and suffer from recurrent infections, allergies and autoimmune diseases. Aim: To investigate the clinical characteristics of children with IgAD and analyse the levels of IgG and IgM of the patients. Materials and methods: The clinical and laboratory information from medical records of 24 children with IgAD were studied retrospectively. Results: 17 (71%) patients had allergic disorders, 13 (54%) patients had autoimmune disorders and 7 (29%) patients had infectious diseases at the moment of the diagnosis of IgAD. Serum IgG and IgM levels were increased in 38 % and 46 % of patients, respectively. Conclusions: we found that allergic disorders were the most common clinical manifestation and group of patients had increased levels of serum immunoglobulins.

Estado inmunológico en niños con diarrea crónica inespecífica / Immune status in children with chronic nonspecific diarrhea

Introducción: la diarrea crónica inespecífica (DCI) en la infancia constituye motivo frecuente de consulta, no se ha podido determinar aún el origen de este padecimiento, se invocan varias teorías que tratan de explicar su fisiopatología sobre la base de trastornos inmunológicos asociados. Objetivo: caracterizar el estado inmunológico de niños con DCI. Materiales y Método: se realizó un estudio descriptivo transversal a 36 niños menores de 6 años con diagnóstico de diarrea crónica inespecífica, atendidos en el Instituto de Gastroenterología en el período comprendido de marzo a diciembre del 2012. A todos se les realizó determinación de hemoglobina, hierro sérico, dosificación de inmunoglobulinas totales y ultrasonido de timo. Para el análisis estadístico se emplearon pruebas paramétricas y las diferencias se consideraron significativas con p < 0,05. Resultados: el abandono de la lactancia materna exclusiva antes de los 6 meses y los niveles séricos bajos de Inmunoglobulina A (IgA) tuvieron una elevada frecuencia. No se demostró asociación entre duración de la lactancia materna exclusiva recibida, área tímica y niveles séricos de IgA. Conclusiones: la mayoría de los niños con diarrea crónica inespecífica tienen compromiso de su estado inmunológico. Los principales trastornos inmunológicos presentes son la hipoplasia tímica y los niveles séricos bajos de IgA.

Introduction: chronic nonspecific diarrhea (CID) in childhood is frequent complaint, has not yet been able to determine the origin of this disease, and is invoked several theories that attempt to explain its pathophysiology based on associated immunological disorders. Objective: to characterize the immune status of children with DCI. Materials and Methods: we carried out a cross-sectional study of 36 children less than 6 years diagnosed with chronic nonspecific diarrhea treated at the Institute of Gastroenterology in the period March to December 2012. An All patients underwent complete blood count, determination of serum iron, total immunoglobulin dose and thymus´s ultrasound. For statistical analysis, parametric tests were used and differences were considered significant at p <0.05. Results: the abandonment of exclusive breastfeeding before 6month and low serum immunoglobulin A (IgA) levels had a high frequency in our study. No association was found between cessation of breastfeeding before 6 months, thymic hypoplasia and low serum IgA levels. Conclusions: most children with chronic nonspecific diarrhea have compromised their immune status. The main immune disorders are the thymic hypoplasia and low serum IgA levels.

Serodiagnosis of celiac disease in children referred for evaluation of anemia: A pediatric hematology unit's experience.

Background: Children presenting with typical clinical features of celiac disease (CD) are diagnosed relatively easily, however, diagnosis remains challenging and is often delayed when they present with 'difficult to treat anemia' without overt gastrointestinal manifestations. Index study was undertaken to report profile of patients referred to pediatric hematology unit with 'difficult anemia' who subsequently were diagnosed with CD. Materials and Methods: The records of 83 patients (1988-2008) with CD were scrutinized retrospectively who had presented with predominant hematological manifestations. Results: CD was confirmed histologically in 31 (37%), while 52 (63%) were diagnosed by serology alone. The mean age at diagnosis was 8.0 ± 2.8 years. The mean duration of symptom-diagnosis interval was 40.9 ± 30.6 months. Eighty-one (98%) children had anemia (Hb < 11 g/dl) and 55 (66%) had received iron supplements without discernible benefit. Thirty-nine (47%) patients received a blood transfusion. Thirty-six (43%) patients did not have diarrhea. Majority of the patients had either a microcytic-hypochromic (48%) or dimorphic (43%) anemia. Twenty-four (33%) had thrombocytosis, while 5 (7%) had thrombocytopenia. Mean duration of follow-up for patients on roll in the clinic for more than six months was 17.7 ± 20.9 months. Conclusion: Pediatricians and hematologists need to be aware of the extra-intestinal manifestations of CD. Prolonged duration of symptoms and a diagnosis at a relatively older age is striking in children presenting with predominantly hematological manifestations. Investigations for CD are recommended in children presenting with iron deficiency anemia refractory to hematinics or who have coexisting growth retardation. Necessity for biopsy in overtly symptomatic cases is discussed.

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.

A Clinical Study of Primary Immunodeficiency Disease in a Single Center in Seoul from 1996 to 2004 / 소아알레르기및호흡기학회지

PURPOSE: Although primary immunodeficiency disorders are relatively rare, early diagnosis provides the opportunity to reduce morbidity and mortality. The aim of this study was to investigate disease distribution, clinical manifestations, genetic mutation, treatment and prognosis of primary immunodeficiency disorders of childhood. METHODS: We retrospectively reviewed the medical records of 15 cases with primary immunodeficiency disorders between 1996 and 2004 in Samsung Seoul Hospital, Seoul, Korea. RESULTS: The most common primary immunodeficiency was common variable immunodeficiency (CVID) (n=7), followed by X-linked agammaglobulinemia (XLA) (n=3), severe combined immunodeficiency (SCID) (n=2), hyper IgM syndrome (n=1), selective IgA deficiency (n=1), and chronic granulomatous disease (CGD) (n=1). Most cases had recurrent infections such as otitis media, bacterial pneumonia, sinusitis and other respiratory infections during infancy. The age at diagnosis ranged from 4 months to 17 years with a median age of 5 years. The male to female ratio was 11 to 4. Eleven patients were diagnosed with primary immunodeficiency diseases following respiratory infection, while the other 4 patients had pulmonary tuberculosis, perianal abscess, bacterial meningitis, septic arthritis. All the patients with XLA and CVID were regularly treated with IVIG. Two cases of SCID underwent successful bone marrow transplantation without complications. The patients with hyper IgM syndrome died due to severe infection even after bone marrow transplantation. CONCLUSION: Fifteen variable cases of primary immunodeficiency were diagnosed during 9 years. A high index of suspicion is required in children with recurrent or severe infections for the diagnosis of primary immunodeficiency, because early diagnosis and treatment can reduce mortality and morbidity.

Two Cases of Malignant Lymphomas in Children with Selective IgA and IgG Subclass Deficiency / 대한소아혈액종양학회지

Selective IgA deficiency is one of the most common primary immunodeficiency. Some patients with IgA deficiency also have deficits in one or more immunoglobulin G subclasses. It has been estimated that up to 25% of patients with certain primary immunodeficiencies will develop tumors, primarily B-cell lymphomas during their lifetime. We hereby present 2 cases of malignant lymphomas, one diffuse large cell lymphoma and another mixed cellularity Hodgkin's disease, respectively, which developed in patients with selective IgA and IgG subclass deficiency.

The immunological and clinical manifestation of selective IgA deficiency / 中国免疫学杂志

Objective:In view of the immunological and clinical manifestation of SIgAD.Methods:Single radial immunodiffusion technique was emploied to determine serum IgG?IgA?IgM and the enzyme linked immunosorbent assay(ELISA) had been used to measure serum IgE;anti unclear antibodies(ANA) were test with indirect immunofluorescence technique,cellular immunity was test with lymphocyte translation assay.Results:Tweenty eight patients with selective IgA deficiency were seen during the last tween years(IgA