Análisis y Diagnóstico de las Manifestaciones Pulmonares de los pacientes vivos en el año 2020 con diagnóstico de errores innatos del sistema inmune, en el Hospital Nacional de Niños

Las inmunodeficiencias primarias (IDP) son trastornos hereditarios en los que uno o varios componentes del sistema inmunológico están disminuidos, ausentes o no tienen una función adecuada. Constituyen un reto diagnóstico, debido a que son afecciones no adquiridas del sistema inmune innato o bien del sistema adaptativo, celular o humoral. Se caracterizan por presentar un amplio espectro clínico, que incluyen infecciones recurrentes, trastornos autoinmunes, linfoproliferativos, anomalias congénitas, y evidentemente un alto riesgo de malignidad. La vía respiratoria y el pulmón, contituyen organos díana, donde la enfermedad es común y el espectro de manifestaciones es amplio e incluyen desde las infecciónes agudas, hasta la progresión de patologías crónicas, asociadas tanto a la recurrencia de procesos infecciosos, así como al defecto ausente o carente inmunológico. Evidentemente esta razón contribuye ampliamente a la morbimortalidad en este grupo de pacientes. Sin embargo, la presentación variada y la falta en general del conocimiento de las inmunodeficiencias primarias, tanto a nivel nacional como a nivel mundial, en este entorno, dificultan el diagnóstico y el tratamiento temprano de estas complicaciones. Por lo tanto, el realizar un estudio de una muestra de esta población en nuestro país, permitirá definir las señales de alerta de IDP en pacientes con manifestaciones respiratorias, las pruebas diagnósticas necesarias y el manejo terapéutico, para así prolongar la manifestación y complicación de estas patologias respiratorias, con el fin de mejorar la calidad de vida en la población costarricense con inmunodeficiencia primaria.UCR::Vicerrectoría de Investigación::Sistema de Estudios de Posgrado::Salud::Especialidad en Pediatrí

Selective IgA deficiency, juvenile idiopathic arthritis and anterior uveitis in a Costa Rican child. Coincidental diseases?. Case report and literature review

Antecedentes: la deficiencia selectiva de IgA es la inmunodeficiencia primaria más frecuente alrededor del mundo. Usualmente quienes la sufren son asintomáticos. Los casos sintomáticos se caracterizan por infecciones recurrentes, riesgo mayor de enfermedades autoinmunes y/o neoplasias. Por otra parte, las enfermedades reumáticas en la infancia son infrecuentes, siendo la artritis idiopática juvenil la más común. Presentación del Caso: se presenta el caso de una paciente femenina que desarrolló artritis idiopática juvenil oligoarticular a los 7 años de edad. Posterior al diagnóstico, la paciente presentó uveítis anterior aguda. Posterior a la evaluación inmune inicial, se diagnosticó deficiencia selectiva de IgA. Los estudios realizados para inmunodeficiencia documentaron un fenotipo de célula T normal. El fenotipo de células B evidenció un perfil normal de linfocitos B de memoria, ausencia de linfocitos B transicionales y un amento en la población B CD21 low. Conclusiones: al inicio de cualquier valoración reumatológica, los médicos deben solicitar niveles de inmunoglobulinas, con el fin de detectar posibles inmunodeficiencias primarias de anticuerpos.Backgroup: selective IgA deficiency is the most frequent primary immunodeficiency worldwide. Patients are usually asymptomatic. However, those cases with symptoms develop recurrent infections and increased risk of autoimmune and malignant diseases. On the other hand, rheumatic disorders are uncommon during childhood with juvenile idiopathic arthritis as the most common one. Case Presentation: we present the case of a female patient, who developed oligoarticular juvenile idiopathic arthritis at age 7 years. After the diagnosis, she developed acute anterior uveitis. During the initial immunological evaluation, the diagnosis of selective IgA deficiency was confirmed. A work-up for immunodeficiency demonstrated a normal T cell compartment. B cell subpopulations showed normal memory B lymphocytes, absence of transitional B cells, and an increase in the CD21 low unique subset. Conclusions: at the beginning of any rheumatological evaluation, the physician should request immunoglobulins levels, in order to detect possible primary antibodies deficiencies

Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study

BackgroundMultisystem inflammatory syndrome in children (MIS-C), a hyperinflammatory condition associated with SARS-CoV-2 infection, has emerged as a serious illness in children worldwide. Immunoglobulin or glucocorticoids, or both, are currently recommended treatments.MethodsThe Best Available Treatment Study evaluated immunomodulatory treatments for MIS-C in an international observational cohort. Analysis of the first 614 patients was previously reported. In this propensity-weighted cohort study, clinical and outcome data from children with suspected or proven MIS-C were collected onto a web-based Research Electronic Data Capture database. After excluding neonates and incomplete or duplicate records, inverse probability weighting was used to compare primary treatments with intravenous immunoglobulin, intravenous immunoglobulin plus glucocorticoids, or glucocorticoids alone, using intravenous immunoglobulin as the reference treatment. Primary outcomes were a composite of inotropic or ventilator support from the second day after treatment initiation, or death, and time to improvement on an ordinal clinical severity scale. Secondary outcomes included treatment escalation, clinical deterioration, fever, and coronary artery aneurysm occurrence and resolution. This study is registered with the ISRCTN registry, ISRCTN69546370.FindingsWe enrolled 2101 children (aged 0 months to 19 years) with clinically diagnosed MIS-C from 39 countries between June 14, 2020, and April 25, 2022, and, following exclusions, 2009 patients were included for analysis (median age 8·0 years [IQR 4·2-11·4], 1191 [59·3%] male and 818 [40·7%] female, and 825 [41·1%] White). 680 (33·8%) patients received primary treatment with intravenous immunoglobulin, 698 (34·7%) with intravenous immunoglobulin plus glucocorticoids, 487 (24·2%) with glucocorticoids alone; 59 (2·9%) patients received other combinations, including biologicals, and 85 (4·2%) patients received no immunomodulators. There were no significant differences between treatments for primary outcomes for the 1586 patients with complete baseline and outcome data that were considered for primary analysis. Adjusted odds ratios for ventilation, inotropic support, or death were 1·09 (95% CI 0·75-1·58; corrected p value=1·00) for intravenous immunoglobulin plus glucocorticoids and 0·93 (0·58-1·47; corrected p value=1·00) for glucocorticoids alone, versus intravenous immunoglobulin alone. Adjusted average hazard ratios for time to improvement were 1·04 (95% CI 0·91-1·20; corrected p value=1·00) for intravenous immunoglobulin plus glucocorticoids, and 0·84 (0·70-1·00; corrected p value=0·22) for glucocorticoids alone, versus intravenous immunoglobulin alone. Treatment escalation was less frequent for intravenous immunoglobulin plus glucocorticoids (OR 0·15 [95% CI 0·11-0·20]; p<0·0001) and glucocorticoids alone (0·68 [0·50-0·93]; p=0·014) versus intravenous immunoglobulin alone. Persistent fever (from day 2 onward) was less common with intravenous immunoglobulin plus glucocorticoids compared with either intravenous immunoglobulin alone (OR 0·50 [95% CI 0·38-0·67]; p<0·0001) or glucocorticoids alone (0·63 [0·45-0·88]; p=0·0058). Coronary artery aneurysm occurrence and resolution did not differ significantly between treatment groups.InterpretationRecovery rates, including occurrence and resolution of coronary artery aneurysms, were similar for primary treatment with intravenous immunoglobulin when compared to glucocorticoids or intravenous immunoglobulin plus glucocorticoids. Initial treatment with glucocorticoids appears to be a safe alternative to immunoglobulin or combined therapy, and might be advantageous in view of the cost and limited availability of intravenous immunoglobulin in many countries.FundingImperial College London, the European Union's Horizon 2020, Wellcome Trust, the Medical Research Foundation, UK National Institute for Health and Care Research, and National Institutes of Health