Autoimmunity in patients with selective IgA deficiency.

BACKGROUND AND OBJECTIVE: Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deticiency. Patients with SIgAD have a greater risk of concomitant autoimmune disorders than healthy individuals. The exact mechanism underlying the relationship between autoimmunity and SIgAD is not fully understood. The aim of this study was to evaluate potential associations between autoimmunity and specific clinical or immunological findings in patients with SIgAD. METHODS: The study population comprised 57 symptomatic patients (65% males) with confirmed SIgAD who were referred to our center. Demographic data and history of autoimmunity were recorded both for patients and for their relatives. Comprehensive clinical and laboratory examinations were performed to investigate autoimmune complications in all the patients. RESULTS: Autoimmune disorders were documented in 17 cases (29.8%; 9 males and 8 females). The most common manifestations were thyroiditis, vitiligo, and hemolytic anemia (3 cases each). Ten patients (17.5%) had a family history of autoimmunity. Significant associations were detected between autoimmunity and increased duration of follow-up (P = .003), serum level of IgM (P = .01), regulatory T-cell count (P = .03), and class-switched memory B-cell count (P = .01). Four cases of autoimmune SIgAD (23.5%) progressed to common variable immunodeficiency during the follow-up period (P = .006). CONCLUSIONS: Autoimmune disorders, autoimmune cytopenia, and Ig subclass deficiency can lead to severe clinical manifestations in patients with SIgAD. Therefore, immunologists and pediatricians should be aware of these conditions.

Mortality and morbidity in patients with X-linked agammaglobulinaemia

BACKGROUND: X-linked agammaglobulinaemia (XLA) is a genetic disorder characterised by a defect in the generation of mature B cells, lack of antibodies production, and susceptibility to recurrent bacterial infections. Understanding of the risk factors responsible for morbidity and mortality in these patients can help in a better management of this disorder. However, there is a lack of specific studies in the literature regarding the morbidity and mortality of XLA patients. This study is designed to evaluate morbidities and mortality and survival rates in Iranian patients with XLA diagnosis during the past 20 years. METHODS: We have registered the clinical data of the XLA patients and followed them up until 2010. At the time of diagnosis, a four-page questionnaire including complete medical information was filled out for all patients. Follow-up information was gathered either by reviewing the patients' hospital records or regularly visiting the patients. RESULTS: Among 41 patients, 26.8% died during the follow up period. All of the complications before the initiation of treatment such as pneumonia, otitis media and diarrhoea were reduced after immunoglobulin replacement, except sinusitis and conjunctivitis. There were significant associations between some immunological and clinical characteristics such as lymphocyte subsets, consanguinity marriage and mortality. CONCLUSION: Despite recent advances in the treatment of XLA, these patients still suffer from severe complications. Associations between poor prognosis and clinical and some immunological characteristics of the patients may help physicians to select poor prognoses patients at higher risk of mortality to develop prevention strategies for them

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Mortality and morbidity in patients with X-linked agammaglobulinaemia.

BACKGROUND: X-linked agammaglobulinaemia (XLA) is a genetic disorder characterised by a defect in the generation of mature B cells, lack of antibodies production, and susceptibility to recurrent bacterial infections. Understanding of the risk factors responsible for morbidity and mortality in these patients can help in a better management of this disorder. However, there is a lack of specific studies in the literature regarding the morbidity and mortality of XLA patients. This study is designed to evaluate morbidities and mortality and survival rates in Iranian patients with XLA diagnosis during the past 20 years. METHODS: We have registered the clinical data of the XLA patients and followed them up until 2010. At the time of diagnosis, a four-page questionnaire including complete medical information was filled out for all patients. Follow-up information was gathered either by reviewing the patients' hospital records or regularly visiting the patients. RESULTS: Among 41 patients, 26.8% died during the follow up period. All of the complications before the initiation of treatment such as pneumonia, otitis media and diarrhoea were reduced after immunoglobulin replacement, except sinusitis and conjunctivitis. There were significant associations between some immunological and clinical characteristics such as lymphocyte subsets, consanguinity marriage and mortality. CONCLUSION: Despite recent advances in the treatment of XLA, these patients still suffer from severe complications. Associations between poor prognosis and clinical and some immunological characteristics of the patients may help physicians to select poor prognoses patients at higher risk of mortality to develop prevention strategies for them.

RAD50 single-nucleotide polymorphism in predominantly antibody deficiency

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Autoimmunity in patients with selective IgA deficiency

Background and Objective: Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency. Patients with SIgAD have a greater risk of concomitant autoimmune disorders than healthy individuals. The exact mechanism underlying the relationship between autoimmunity and SIgAD is not fully understood. The aim of this study was to evaluate potential associations between autoimmunity and specific clinical or immunological findings in patients with SIgAD. Methods: The study population comprised 57 symptomatic patients (65% males) with confirmed SIgAD who were referred to our center. Demographic data and history of autoimmunity were recorded both for patients and for their relatives. Comprehensive clinical and laboratory examinations were performed to investigate autoimmune complications in all the patients. Results: Autoimmune disorders were documented in 17 cases (29.8%; 9 males and 8 females). The most common manifestations were thyroiditis, vitiligo, and hemolytic anemia (3 cases each). Ten patients (17.5%) had a family history of autoimmunity. Significant associations were detected between autoimmunity and increased duration of follow-up (P=.003), serum level of IgM (P=.01), regulatory T-cell count (P=.03), and class-switched memory B-cell count (P=.01). Four cases of autoimmune SIgAD (23.5%) progressed to common variable immunodeficiency during the follow-up period (P=.006). Conclusions: Autoimmune disorders, autoimmune cytopenia, and Ig subclass deficiency can lead to severe clinical manifestations in patients with SIgAD. Therefore, immunologists and pediatricians should be aware of these conditions (AU)

Fundamento y objetivo: La deficiencia selectiva de IgA (SIGAD) es la inmunodeficiencia primaria de anticuerpos más frecuente. Se conoce que los pacientes con SIGAD tienen un mayor riesgo de padecer trastornos autoinmunes asociados, en comparación con la población normal. Sin embargo, no se encuentra aún esclarecido el mecanismo exacto de la relación entre la autoinmunidad y el SIGAD. El objetivo de este estudio ha sido el evaluar las asociaciones entre la autoinmunidad y los hallazgos clínicos o inmunológicos en los pacientes con SIGAD. Métodos: Han sido estudiados cincuenta y siete pacientes sintomáticos (65% varones), con diagnóstico confirmado de SIGAD. Se registraron sus datos demográficos y los antecedentes, personales y familiares, de enfermedades autoinmunes, y se realizaron múltiples exámenes clínicos y de laboratorio. Resultados: Se documentaron enfermedades autoinmunes en 17 casos (29,8%; 9 hombres y 8 mujeres), siendo la tiroiditis, el vitíligo y la anemia hemolítica, las manifestaciones autoinmunes más comunes, con 3 casos para cada trastorno. Diez pacientes (17,5%) contaban con antecedentes familiares de autoinmunidad. Se encontraron asociaciones significativas con el desarrollo de enfermedades autoinmunes en estos pacientes con SIGAD: un prolongado período de seguimiento (p=0,003), el nivel sérico de IgM (p=0,01), la cuantificación de las linfocitos T reguladores (p=0,03) y el cambio de isotipo de los linfocitos B de memoria (p=0,01). Cuatro casos de SIGAD, con enfermedad autoinmune asociada (23,5%), evolucionaron hacia una inmunodeficiencia variable común, durante el período de seguimiento (p=0,006). Conclusiones: Los pacientes con SIGAD pueden desarrollar enfermedades autoinmunes que en ocasiones se manifiestan con formas clínicas graves y deben ser objeto de estudio y de seguimiento por parte del inmunólogo y del pediatra (AU)

AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency

BACKGROUND: Primary antibody deficiencies (PADs) are a heterogeneous group of disorders, characterised by increased susceptibility to recurrent bacterial infections. Common variable immunodeficiency (CVID) is the most important PAD from the clinical point of view and selective IgA deficiency (IgAD) is the most common PAD. However, the underlying gene defect in both is still unknown. As a recent study in Europe showed an association between a single nucleotide polymorphism (SNP) of AICDA gene with PADs, this study was performed to evaluate such an association in Iranian patients. METHODS: Fifty-eight patients with PAD, including 39 CVID and 19 IgAD, as well as 34 healthy volunteers, were enrolled in this study. Genotyping was done in all groups for an intronic SNP in AICDA (rs2580874), using real-time PCR genotyping assay. RESULTS: The less frequent genotype of AICDA in IgAD patients was AA, seen in 10.5% of the patients, which was much lower than the 30.8% in CVID patients and 38.2% in the controls. However, these differences were not significant. Indeed the GG genotype in the patients with PADs was seen in 20.7%, compared to 8.8% in the controls without any significant difference. CONCLUSIONS: There was no significant association between the previously reported genetic variant of AICDA gene and the development of CVID or IgAD, but further multi-center studies are also needed

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AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency.

BACKGROUND: Primary antibody deficiencies (PADs) are a heterogeneous group of disorders, characterised by increased susceptibility to recurrent bacterial infections. Common variable immunodeficiency (CVID) is the most important PAD from the clinical point of view and selective IgA deficiency (IgAD) is the most common PAD. However, the underlying gene defect in both is still unknown. As a recent study in Europe showed an association between a single nucleotide polymorphism (SNP) of AICDA gene with PADs, this study was performed to evaluate such an association in Iranian patients. METHODS: Fifty-eight patients with PAD, including 39 CVID and 19 IgAD, as well as 34 healthy volunteers, were enrolled in this study. Genotyping was done in all groups for an intronic SNP in AICDA (rs2580874), using real-time PCR genotyping assay. RESULTS: The less frequent genotype of AICDA in IgAD patients was AA, seen in 10.5% of the patients, which was much lower than the 30.8% in CVID patients and 38.2% in the controls. However, these differences were not significant. Indeed the GG genotype in the patients with PADs was seen in 20.7%, compared to 8.8% in the controls without any significant difference. CONCLUSIONS: There was no significant association between the previously reported genetic variant of AICDA gene and the development of CVID or IgAD, but further multi-center studies are also needed.

Autoimmune phenotype in patients with common variable immunodeficiency.

BACKGROUND AND OBJECTIVE: Autoimmune disorders occur with a higher incidence in common variable immunodeficiency (CVID) patients than in the general population. To describe the clinical features of the autoimmune phenotype in patients with CVID. METHODS: The hospital records of all diagnosed CVID patients referred to the Children's Medical Center Hospital in Tehran, Iran between 2000 and 2010 were reviewed. Patients were also classified according to the presence or absence of autoimmune disease. RESULTS: Of 52 patients studied, 26.9% (n=14) had shown at least 1 autoimmune manifestation during the study period. Autoimmune cytopenias and juvenile rheumatoid arthritis were the most common form of autoimmunity in our series. Autoimmunity was significantly associated with polyclonal lymphocytic infiltrative disorders (P = .017), increased serum Immunoglobulin (Ig) M levels (P < .001), decreased IgE values (P = .04) and diminished switched memory B-cell count (P < .001). CONCLUSIONS: Because autoimmunity is one of the first manifestations in CVID, humoral immune system tests should be considered in autoimmune patients with a history of recurrent infection. The presence of polyclonal lymphocytic infiltrative disorders and decreased switched memory B-cells may predispose CVID patients to autoimmunity.

Autoimmune Phenotype in Patients With Common Variable Immunodeficiency

Antecedentes y objetivo: Las enfermedades autoinmunes se presentan asociadas, con una alta incidencia, en los pacientes con inmunodeficiencia común variable (IDCV), respecto a la población normal. El objetivo de este estudio fue describir los hechos clínicos del fenotipo autoinmune en pacientes con IDCV. Métodos: Se revisaron las historias clínicas de todos los pacientes diagnosticados de IDCV del Medical Center Hospital de Teherán en el periodo de 2000-2010. Los pacientes fueron clasificados en dos grupos: con y sin enfermedades autoinmunes asociadas. Resultados: De los 52 pacientes estudiados, un 26.9% (14 pacientes) habían mostrado al menos una manifestación de enfermedad autoinmune durante el tiempo del estudio. Las citopenias autoinmunes y la artritis reumatoide juvenil fueron las manifestaciones más frecuentes en nuestra serie. Encontramos en nuestros pacientes asociaciones significativas entre enfermedades infiltrativas polilinfocíticas (p=0.017), incremento de niveles de IgM sérica (p<0.001) y disminución de cifras de IgE (p=0.04) con desarrollo de autoinmunidad, así como una disminución de las células B memoria (p<0.001). Conclusión: La autoinmunidad puede considerarse una de las manifestaciones iniciales en los pacientes con IDCV, por lo que se aconseja explorar el sistema inmunológico humoral mediante test in vitro, en aquellos pacientes con historias de infecciones de repetición. Por otra parte la presencia de enfermedades infiltrativas polilinfocíticas y la disminución de las células B memoria en pacientes con IDCV, pueden predisponer al desarrollo de una enfermedad autoinmune (AU)

Background and objective: Autoimmune disorders occur with a higher incidence in common variable immunodeficiency (CVID) patients than in the general population. To describe the clinical features of the autoimmune phenotype in patients with CVID. Methods: The hospital records of all diagnosed CVID patients referred to the Children’s Medical Center Hospital in Tehran, Iran between 2000 and 2010 were reviewed. Patients were also classified according to the presence or absence of autoimmune disease. Results: Of 52 patients studied, 26.9% (n=14) had shown at least 1 autoimmune manifestation during the study period. Autoimmune cytopenias and juvenile rheumatoid arthritis were the most common form of autoimmunity in our series. Autoimmunity was significantly associated with polyclonal lymphocytic infiltrative disorders (P=.017), increased serum Immunoglobulin (Ig) M levels (P<.001), decreased IgE values (P=.04) and diminished switched memory B-cell count (P<.001). Conclusions: Because autoimmunity is one of the first manifestations in CVID, humoral immune system tests should be considered in autoimmune patients with a history of recurrent infection. The presence of polyclonal lymphocytic infiltrative disorders and decreased switched memory B-cells may predispose CVID patients to autoimmunity (AU)