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

Follow-up for 3 years of a pediatric population diagnosed in 2018 with mother-to-child transmission of HIV in 8 Latin American countries in the PLANTAIDS cohort

Abstract Introduction The frequency of mother-to-child transmission (MTCT) of human immunodeficiency virus (HIV) in Latin America has decreased considerably. However, new infections continue to be recorded, and the pediatric population remains one of the most vulnerable groups in this region. The main objective of the study was to describe the clinical, epidemiological and psychosocial characteristics of new diagnoses of HIV MTCT in 2018 in the PLANTAIDS network (Paediatric Network for Prevention, Early Detection and Treatment of HIV in Children) during the 3 years following diagnosis. Methodology Retrospective, multicenter, descriptive study based on a 3-year follow-up of patients diagnosed with HIV infection due to MTCT in 2018 in 10 hospitals in 8 Latin American countries (Costa Rica, Ecuador, Mexico, Honduras, El Salvador, Panama, Guatemala and Venezuela). The hospitals belonged to the PLANTAIDS network, which is included in CYTED (Ibero-American Programme of Science and Technology for Development). Results The study population comprised 72 pediatric patients (38.9% male). The median age at diagnosis was 2.4 years (IQR: 0.8–5.4). There were 35 cases of opportunistic infections corresponding to 25 patients (34.7%), with tuberculosis being the most common. Adequate childhood vaccination coverage was achieved in 80.5%. There were 3 cases of acute SARS-CoV-2 infection, and these were asymptomatic or mildly symptomatic. According to the Centers for Disease Control and Prevention (CDC) classification, the most frequent clinical-immunological stage at all check-ups was C1. Three patients died from opportunistic infections and/or advanced HIV infection. Conclusions It is important to diagnose HIV infection early in pediatrics, since early initiation of ART is associated with a decrease in mortality. Despite this, HIV infection has a poor prognosis in children, necessitating adequate follow-up to ensure adherence to health care and ART, although it can sometimes prove difficult in children

COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.

BACKGROUND: The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI. OBJECTIVE: To estimate COVID-19 vaccination safety and examine effect on outcomes in patients with IEI. METHODS: We built a secure registry database in conjunction with the US Immunodeficiency Network to examine vaccination frequency and indicators of safety and effectiveness in IEI patients. The registry opened on January 1, 2022, and closed on August 19, 2022. RESULTS: Physicians entered data on 1245 patients from 24 countries. The most common diagnoses were antibody deficiencies (63.7%). At least one COVID-19 vaccine was administered to 806 patients (64.7%), and 216 patients received vaccination prior to the development of COVID-19. The most common vaccines administered were mRNA-based (84.0%). Seventeen patients were reported to seek outpatient clinic or emergency room care for a vaccine-related complication, and one patient was hospitalized for symptomatic anemia. Eight hundred twenty-three patients (66.1%) experienced COVID-19 infection. Of these, 156 patients required hospitalization (19.0%), 47 required ICU care (5.7%), and 28 died (3.4%). Rates of hospitalization (9.3% versus 24.4%, p < 0.001), ICU admission (2.8% versus 7.6%, p = 0.013), and death (2.3% versus 4.3%, p = 0.202) in patients who had COVID-19 were lower in patients who received vaccination prior to infection. In adjusted logistic regression analysis, not having at least one COVID-19 vaccine significantly increased the odds of hospitalization and ICU admission. CONCLUSION: Vaccination for COVID-19 in the IEI population appears safe and attenuates COVID-19 severity

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