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.

Manejo clínico y diagnóstico para pacientes con enfermedades de inmunodeficiencia primaria por déficit de producción de anticuerpos / Clinical management and diagnosis for patients with primary immunodeficiency diseases due to deficiency of antibody production

1. INTRODUCCIÓNLas inmunodeficiencias primarias son un grupo de más de 400 enfermedades, en las cuales el sistema inmune pierde sus funciones de reconocimiento de patógenos o funciona de forma inapropiada. Algunas de ellas son relativamente comunes; mientras otras son raras. Estas enfermedades son en ocasiones de por vida, debilitantes y costosas1,2.Sin embargo, muchos progresos se han hecho desde su des-cripción original en el año de 1952. Se han dado grandes pasos en cuanto a su entendimiento de las Inmunodeficiencias Pri-marias a nivel genético, de sus características, y tratamiento. Algunos tipos afectan un único tipo de célula; otros afectan más de un componente del sistema inmune2,3.Tomando en cuenta que la aproximación es entre 1-2% de la población, a nivel país se puede decir que un aproximado entre 170 000 a 340 000 pacientes en el país no cuentan con un diagnóstico y muchos mueren por falta de este. El número de afiliados al Instituto Ecuatoriano de Seguridad Social hasta julio de 2021 es de 3 672,611 por lo que se considera que un estimado de 36 726 a 73 452 pacientes podrían presentar este tipo de enfermedades y requerir de atención por infecciones a repetición, enfermedad autoinmune y enfermedades linfopro-liferativas, además de que sin un tratamiento específico po-drían fallecer debido a infecciones graves o tener discapacidad permanente, lo que implica mayor carga para el sistema de Seguridad Social en subsidios y menores ingresos. Ecuador, cuenta con 86 pacientes diagnosticados, según la base de datos de la Sociedad Latino-Americana de Inmunodeficiencias4.Algunas terapias, como la de reemplazo para inmunoglobu-linas, a la que es tributaria más del 60% de estas patologías permite que la esperanza de vida y la morbilidad casi alcancen a aquellos que no presentan la enfermedad5­7.

1. INTRODUCTIONPrimary immunodeficiencies are a group of more than 400 diseases, in which the immune system loses its pathogen recog-nition functions or functions inappropriately. Some of them are relatively common, while others are rare. These diseases are sometimes lifelong, debilitating, and costly1,2. However, much progress has been made since its original description in 1952. Great strides have been made in understanding Primary Immunodeficiencies at the genetic level, their characteristics, and treatment. Some types affect only one type of cell; others affect more than one component of the immune system2,3. Considering that the approximation is between 1 to 2% of the population, at the country level we could say that approximately between 170 000 to 340 000 patients in the country do not have a diagnosis and many die due to lack of it. The number of social security affiliates until July 2021 is 3 672,611, so we could consider that approximately 36 726 to 73 452 patients could present this type of disease and require care for recurrent infections, autoimmune disease and lymphoproliferative diseases, in addition to the fact that without specific treatment they could die due to serious infections or have permanent disability, which implies a greater burden for the social security system in subsidies and lower income. Currently the country has 86 diagnosed patients, according to the database of the Latin American Society of Immunodeficiencies4. Many of the therapies, such as immunoglobulin replacement therapy, to which more than 60% of these pathologies are de-pendent, allow life expectancy and morbidity to almost reach those who do not have the disease 5­7.

Update on perioperative hypersensitivity reactions: joint document from the Brazilian Society of Anesthesiology (SBA) and Brazilian Association of Allergy and Immunology (ASBAI) - Part II: etiology and diagnosis / Atualização sobre reações de hipersensibilidade perioperatória: documento conjunto da Sociedade Brasileira de Anestesiologia (SBA) e Associação Brasileira de Alergia e Imunologia (ASBAI) - Parte II: etiologia e diagnóstico

Abstract This second joint document, written by experts from the Brazilian Association of Allergy and Immunology (ASBAI) and Brazilian Society of Anesthesiology (SBA) concerned with perioperative anaphylaxis, aims to review the pathophysiological reaction mechanisms, triggering agents (in adults and children), and the approach for diagnosis during and after an episode of anaphylaxis. As anaphylaxis assessment is extensive, the identification of medications, antiseptics and other substances used at each setting, the comprehensive data documentation, and the use of standardized nomenclature are key points for obtaining more consistent epidemiological information on perioperative anaphylaxis.

Resumo Este segundo documento, escrito por especialistas da Associação Brasileira de Alergia e Imunologia (ASBAI) e da Sociedade Brasileira de Anestesiologia (SBA) interessados no tema anafilaxia perioperatória, tem por objetivo revisar os mecanismos fisiopatológicos, agentes desencadeantes (em adultos e crianças), assim como a abordagem diagnóstica durante e após o episódio. Por se tratar de uma avaliação abrangente, a identificação das medicações, antissépticos e outras substâncias usadas em cada região, registros detalhados, e nomenclatura padronizada são pontos fundamentais para a obtenção de dados epidemiológicos mais fidedignos sobre a anafilaxia perioperatória.

Update on perioperative hypersensitivity reactions: joint document of the Brazilian Society of Anesthesiology (SBA) and Brazilian Association of Allergy and Immunology (ASBAI) - Part I: post-crisis guidelines and treatment / Atualização sobre reações de hipersensibilidade perioperatória: documento conjunto da Sociedade Brasileira de Anestesiologia (SBA) e Associação Brasileira de Alergia e Imunologia (ASBAI) - Parte I: tratamento e orientação pós-crise

Abstract Experts from the Brazilian Association of Allergy and Immunology (ASBAI) and the Brazilian Society of Anesthesiology (SBA) interested in the issue of perioperative anaphylaxis, and aiming to strengthen the collaboration between the two societies, combined efforts to study the topic and to prepare a joint document to guide specialists in both areas. The purpose of the present series of two articles was to report the most recent evidence based on the collaborative assessment between both societies. This first article will consider the updated definitions, treatment and guidelines after a perioperative crisis. The following article will discuss the major etiologic agents, how to proceed with the investigation, and the appropriate tests.

Resumo Especialistas da Associação Brasileira de Alergia e Imunologia (ASBAI) e da Sociedade Brasileira de Anestesiologia (SBA) interessados no tema anafilaxia perioperatória reuniram-se com o objetivo de intensificar a colaboração entre as duas sociedades no estudo desse tema e elaborar um documento conjunto que possa guiar os especialistas de ambas as áreas. O objetivo desta série de dois artigos foi mostrar as evidências mais recentes alicerçadas na visão colaborativa entre as sociedades. Este primeiro artigo versará sobre as definições mais atuais, formas de tratamento e as orientações após a crise no perioperatório. No próximo artigo serão discutidos os principais agentes causais e a condução da investigação com testes apropriados.

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.

Niveles de IgA en adultos con enfermedad celíaca / IgA levels in adults with celiac disease

La enfermedad celíaca (EC) es una enfermedad autoinmune sistémica desencadenada por el consumo de gluten de la dieta en personas con susceptibilidad genética. Los principales test serológicos utilizados para el diagnóstico y seguimiento de la EC son pruebas basadas en anticuerpos de isotipo inmunoglobulina (Ig) A, siendo la determinación de IgA anti-transglutaminasa tisular (tTG)2 la prueba serológica inicial de elección. La deficiencia selectiva de IgA (DSIgA), es más prevalente en pacientes con EC que en la población general, dificultando el diagnostico serológico de la enfermedad. En el presente estudio observacional descriptivo, se incluyeron 74 pacientes adultos con diagnóstico confirmado de EC y se determinó IgA anti-tTG2 en suero mediante ensayo de ELISA a fin de detectar a aquellos pacientes con niveles indeterminados o negativos, los cuales podrían presentar DSIgA. Se dosó IgA total en el suero de estos pacientes por inmunodifusión radial y el promedio fue de 237,8 ± 100,6 mg/dL. En una paciente del sexo femenino fue detectada IgA total menor a 7 mg/dL, con niveles séricos de IgG e IgM normales, característicos de la DSIgA. Así, la frecuencia calculada de DSIgA fue de 1,35% en la población con EC estudiada. En conclusión, este trabajo es una primera aproximación para describir la frecuencia de DSIgA en pacientes con EC del país y reafirma la importancia de incluir el dosaje de IgA total en el caso de realizar test serológicos de la EC basados en IgA(AU)

Familial IgG3 subclass deficiency: A report of two cases

Primary immunodeficiency in adults is thought to be underestimated in Korea. IgG subclass deficiency, defined as a deficiency at least among the 4 subtypes of IgG subclass, IgG1, IgG2, IgG3, and IgG4, results in recurrent infections, in which IgG3 subclass deficiency (IgGSD) is the most commonly found in adult asthmatic patients. Herein, we report 2 cases of familial IgG3SD. In family 1, a female patient aged 17 years with allergic rhinitis (AR) had recurrent upper respiratory infections (URIs), and gastroenteritis. Her mother aged 50 with AR had recurrent URI, otitis media, urinary tract infection, gastroenteritis, and oral ulcer. A younger sister aged 9 years with AR and asthma had recurrent URI almost all the year round. The serum IgA level was found to be lower than the normal level in her mother and the patient, and IgG3 was decreased in the patient and her sister. The IgG3 level of mother showed within the lower normal limit. In family 2, the mother aged 39 years with nonallergic rhinitis had recurrent URI and oral ulcer. Her son aged 16 years and daughter aged 13 years with AR and asthma had recurrent URI, resulting in uncontrolled asthma. Family 2 was found to be IgG3 deficiency in mother and son, and IgA deficiency in son. The IgG3 level of daughter was within the lower normal level. Mother and the first daughter in family 1 as well as mother and son in family 2 was treated with intravenous immunoglobulin, and their recurrent URI reduced. We reported 2 cases of familial IgG3SD.

Deficiencia específica del IgA y tos crónica húmeda: presentación de caso / Specific deficiency of IgA and chronic wet cough: case presentation

Artículo que presenta un caso clínico relacionado con un paciente masculino de 3 años de edad, nacido a término de un embarazo gemelar del cual sólo él nació vivo. Consulta en la clínica con una historia de infecciones recurrentes del tracto respiratorio desde que nació, ha sido diagnosticado varias veces con bronquitis y ha tenido múltiples tratamientos con antibióticos.

Celiac Disease in South Jordan / 대한소아소화기영양학회지

PURPOSE: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. METHODS: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. RESULTS: Thirty-five children were diagnosed with celiac disease during the study period. Mean age±standard deviation was 6.7±3.8 years (range, 2.0–14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was 16.3±18.7 months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. CONCLUSION: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.

Celiac Disease in South Jordan / 대한소아소화기영양학회지

PURPOSE: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. METHODS: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. RESULTS: Thirty-five children were diagnosed with celiac disease during the study period. Mean age±standard deviation was 6.7±3.8 years (range, 2.0–14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was 16.3±18.7 months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. CONCLUSION: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.

Study on immunoglobulin A Deficiency(IgAD) in Chinese Shanghai Blood Donors / 中国实验血液学杂志

<p><b>UNLABELLED</b>Objective：To calculate the prevalence of IgAD in a replicate cohort of the Chinese Han population in Shanghai area by screening blood donors and to study the genetic difference of IgAD individuals in the Mongoloid population.</p><p><b>METHODS</b>The prevalence of IgAD in a large number of Chinese blood donors (n=61624) in Shanghai area was investigated. The immunoglobulin class, IgG subclass and anti-IgA serum levels were measured among the IgAD donors. These donors were subsequently tissue typed and the allele frequency was compared with the Shanghai bone marrow donor HLA registry.</p><p><b>RESULTS</b>Thirty-one IgAD blood donors were identified, giving a prevalence of 1:2000(31/61624). Most IgAD donors had serum IgG levels above the normal range with no major IgG subclass deficiency and 3 donors was positive for anti-IgA. Two-thirds of the IgAD donors carried Caucasian IgAD associated risk haplotypes, including DRB1*0301-DQB1*0201, DRB1*0701-DQB1*020 and DRB1*0102-DQB1*0501, giving a significantly higher frequency of these haplotypes as compared to the Shanghai bone marrow donor HLA registry.</p><p><b>CONCLUSION</b>The prevalence of IgAD in Chinese Han population is markedly lower than that in Caucasians. The low prevalence of IgAD can potentially be due to the low frequency of the disease associated risk haplotypes in China. However, potential risks exist in performing blood transfusion to IgAD persons, and measures should be taken to reduce IgA anaphylaxis. Meanwhile, it is necessary to set up a Shanghai rare blood bank of IgAD donor for patients to meet the needs of IgA-poor transfusion.</p>

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...

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.

Eficacia del cordón umbilical humano como sustrato para detección de anticuerpos anti endomisio / Efficiency of human umbilical cord as substrate or detection of antiemdomysium antibodies / Aeficácia do cordão umbilical humano como substrato para a detenção de anticorpos anti-endomísio

Los anticuerpos anti endomisio IgA (EMA) están dirigidos hacia antígenos del tejido conectivo que rodea a las fibras del músculo liso. El objetivo de este trabajo fue evaluar la eficacia del cordón umbilical humano (CUH) como sustrato para detectar EMA mediante inmunofluorescencia indirecta y compararlo con una de las metodologías disponibles comercialmente, la cual utiliza como sustrato esófago de mono. Se obtuvieron 100 sueros de pacientes con diagnóstico de enfermedad celíaca y 50 sueros de pacientes clínicamente sanos con biopsia de mucosa intestinal normal, los cuales realizaron su consulta y atención en el Hospital Privado Centro Médico de Córdoba, en un periodo de tiempo comprendido entre los años 2006 y 2009. Los resultados obtenidos mostraron una "muy buena" concordancia entre ambos métodos. Se estimó para el método que utiliza CUH una sensibilidad y especificidad de 98% (93-99%) y 100% (93-100%) respectivamente con una eficacia del 99%. De acuerdo con lo anterior se concluye que utilizar CUH como sustrato para evaluar la presencia de EMA es confiable y efectivo para detectar pacientes con enfermedad celíaca no tratada.

The antiendomysium antibodies (EMA) are directed toward antigens of connective tissue that surrounds the smooth muscle fibers. The aim of this study was to evaluate the efficiency of human umbilical cord (HUC) as substrate to detect EMA by indirect immunofluorescence and to compare it with one of the commercially available methodologies which use monkey esophagus as substrate. Serum samples obtained from 100 patients with celiac disease diagnosis and 50 healthy controls with normal intestinal mucosa were evaluated. Patients were treated at the Hospital Privado Centro Médico de Córdoba over a period of time between 2006 and 2009. The results showed an "almost perfect" concordance between both methods. The calculated sensitivity and specificity for HUC was 98% (93-99%) and 100% (93-100%) respectively, with an efficiency of 99%. This results indicate that the use of HUC as substrate to evaluate the presence of EMA is reliable and effective for the detection of patients with untreated celiac disease.

Os anticorpos anti-endomísio IgA (EMA) são direcionados contra os antígenos do tecido conectivo que cercam as fibras do músculo liso. O objetivo deste trabalho foi avaliar a eficácia do cordão umbilical humano (CUH) como substrato para detectar EMA através da imunofluorescência indireta e compará-lo com uma das metodologias disponíveis comercialmente, a qual utiliza como substrato esôfago de macaco. Foram obtidos 100 soros de pacientes com diagnóstico de doença celíaca e 50 soros de pacientes clinicamente saudáveis com biópsia de mucosa intestinal normal, os quais realizaram sua consulta e atendimento no Hospital Privado Centro Médico de Córdoba, em um período de tempo compreendido entre os anos 2006 e 2009. Os resultados obtidos mostraram uma "ótima" concordância entre ambos os métodos. Foi calculada para o método que utiliza CUH uma sensibilidade e especificidade de 98% (93-99%) e 100% (93-100%) respectivamente com uma eficácia de 99%. De acordo com o acima exposto, se conclui que utilizar CUH como substrato para avaliar a presença de EMA é confiável e eficaz para detectar pacientes com doenças celíacas não tratadas.

Prevalence of Primary Immunodeficiency in Korea

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.

Síndrome de Nijmegen: una enfermedad genética a considerar en un paciente con microcefalia, retardo mental y lesiones de la piel / Nijmegen breakage syndrome

Se presenta el caso de un paciente masculino que a los 6 años de edad es derivado a Neurología Infantil para su estudio por presentar microcefalia y retardo mental. Tras ser evaluado por Inmunología y Genética se realiza en el Laboratorio de citogenética humana, programa de genética ICBM, Facultad de Medicina Universidad de Chile, PCR para deleción 657 del5 que confirma el diagnóstico de Nijmegen dando como resultado deleción nucleótido 5, mutación 657 del5, característico del Síndrome de Nijmegen. Actualmente el niño tiene 13 años y es tratado en el Servicio de Oncología infantil por el desarrollo de linfoma difuso de células grandes B, patología frecuente en este sindrome.

A case of a male patient at 6 years old was referred to child neurology for study due to microcephaly and mental retardation. After being evaluated for Immunology and Genetics Laboratory is performed in human cytogenetics, genetic program ICBM, Faculty of Medicine University of Chile, PCR for deletion 657 of the 5 that confirms the diagnosis of Nijmegen nucleotide deletion resulting in 5, 657 mutation del 5 Characteristic of the syndrome of Nijmegen. Currently the child is 13 and is treated at the Children’s Oncology Service in the development of lymphoma diffuse large B cell, common pathology in this syndrome.

Quantification of serum IgA of coeliac disease patients

Celiac disease [CD] is a gluten - induced multi - organ disorder where small intestine is the primary target of inflammation. Onset of CD may occur at any age and its symptoms vary among individuals. Definitive diagnosis of CD is by intestinal biopsy but determination of anti - IgA tissue transglutaminase [tTG] and anti-gliadin antibodies has become key factors to decide for tissue biopsy. IgA - deficient CD patients may yield false - negative results, therefore total serum IgA level must be determined along with other serological markers to diagnose CD. The study included 42 CD patients who were positive for anti-tTg antibodies [Group A] and 40 subjects [Group B: disease control] presented with gastrointestinal complaints but were negative for anti-tTG antibodies. On the basis of age, Group A was further divided into: Sub-group- I comprised of patients between 1-6 years [n = 31] and Sub-group - II consisted of patients between 7-15 years [n=11]. Level of serum IgA was determined by nephlometry technique. Total serum IgA level was 38.77 +/- 31.21 mg/dl and 26.88 +/- 28.27 mg/ dl in CD patients and disease control group respectively and the difference in the level of serum IgA between these groups was not statistically significant [p=0.75]. Mean IgA level in sub-group -I and sub-group- II was 40.85 +/- 33.29 mg/dl and 32.92 +/- 24.85 mg/dl respectively and the difference in the level of serum IgA between these sub-groups was not statistically significant [p = 0.47]. In Group - A, mean level of IgA in males and females was 42.38 +/- 38.02 mg/dl and 34.41 +/- 20.36 mg/dl respectively and the difference in the level of IgA level was not statistically significant between these groups [p = 0.41]. Selective IgA deficiency [SIgAD] was found in CD and in patients of other gastrointestinal complaints. In order to detect CD in SIgAD, total serum IgA level should also be performed with IgG - antigliadin or IgG-anti-tTG antibodies