Introduction
Patients with inborn errors of immunity (IEI) have a compromised or inappropriate immune response. Although they might be considered a high-risk group for severe SARS-CoV-2 infection, ...the reported impact of COVID-19 in these patients has been reassuring, while the differential susceptibility of distinct types of IEI remains unclear.
Objective
We aimed to describe the findings and outcomes of our known patients with IEI who were diagnosed with COVID-19.
Methods
In a retrospective study from March 2020 to February 2021, four centers in Mexico collected clinical, laboratory, and genetic data from pediatric and adult patients with known diagnoses of IEI who presented with COVID-19, based on compatible symptoms and positive SARS-CoV-2 testing or known household exposure.
Results
We report 31 patients with known IEI from Mexico who presented with SARS-CoV-2 infection. Seventy-four percent were male, 52% were pediatric, and 81% survived. Their ages ranged from 5 months to 56 years, with a median of 17 years. Sixty-five percent had predominant antibody deficiencies, 48% were hospitalized, and 26% required ICU. Pediatric patients had a higher hospital admission rate than adults. Inpatient mortality was 40%, and ICU mortality rate was 63%. Forty-eight percent developed pneumonia, while 36% had evidence of hyperinflammation (4 adults and 7 children). Predominant laboratory features were lymphopenia and thrombocytopenia, seen in 70 and 44% of patients, respectively. The serum D-dimer median value was 2.6 (0.5–20.6) μg/mL, and the median highest ferritin value was 1015 (32–10,303) ng/mL. Intravenous immunoglobulin was used in 80% of patients. Other treatments included macrolides (39%) and corticosteroids (29%). Six patients died from secondary infection or uncontrolled systemic inflammation.
Discussion
Although impaired immunity due to IEI may be a predisposing factor for severe COVID-19, most of our patients with IEI who acquired the SARS-CoV-2 infection developed a well-tolerated infection and survived, as have more than 80% of worldwide reported patients to date. An impaired immune or inflammatory response may be a predisposing factor for some and a protective factor for others. A systematic review of the literature could help identify those patients at risk of severe disease and complications. Healthcare-associated infections should be aggressively prevented.
Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, ...arthritis, short stature, and lymphadenopathy.
We aimed to describe the clinical, laboratory, and genetic features of six patients from four Mexican families.
We performed exome sequencing in patients of four families with suspected actinopathy, collected their data from medical records, and reviewed the literature for reports of other patients with actin-related protein 2/3 complex subunit 1B deficiency.
Six patients from four families were included. All had recurrent infections, mainly bacterial pneumonia, and cellulitis. A total of 67% had eczema whereas 50% had food allergies, failure to thrive, hepatomegaly, and bleeding. Eosinophilia was found in all; 84% had thrombocytopenia, 67% had abnormal-size platelets and anemia. Serum levels of IgG, IgA, and IgE were highly increased in most; IgM was normal or low. T cells were decreased in 67% of patients, whereas B and NK cells were increased in half of patients. Two of the four probands had compound heterozygous variants. One patient was successfully transplanted. We identified 28 other patients whose most prevalent features were eczema, recurrent infections, failure to thrive, bleeding, diarrhea, allergies, vasculitis, eosinophilia, platelet abnormalities, high IgE/IgA, low T cells, and high B cells.
Actin-related protein 2/3 complex subunit 1B deficiency has a variable and heterogeneous clinical spectrum, expanded by these cases to include keloid scars and Epstein-Barr virus chronic hepatitis. A novel deletion in exon 8 was shared by three unrelated families and might be the result of a founder effect.
Introduction: Common variable immunodeficiency (CVID) is the most prevalent symptomatic humoral deficiency; however, its heterogeneous presentation makes the diagnosis difficult. The present study is ...aimed to verify the CVID diagnostic criteria as established by the European Society for Immunodeficiencies in 42 CVID patients from our outpatient clinic.
Methods: Information was collected from their medical records and when needed, lymphocyte subpopulations in peripheral blood (PB) were performed by flow cytometry.
Results: All the patients fulfilled the clinical working definition for CVID and showed decreased serum IgG and IgA at diagnosis. Over two-thirds of the patients had decreased memory B cell percentages. However, the remaining patients exhibited other quantitative B cell defects in PB. Evaluation of vaccination responses was only found in 13 records and 69% were not responsive. None of the patients were subjected to vaccination studies to both, T-cell dependent and independent antigens. The two required tests to evaluate T cell responses were performed in 84.2% of the patients and reported normal. Without the support of third-party payers, only 34.2% of our patients would have completed the required evaluations.
Conclusions: Further efforts are needed to speed up CVID diagnosis in low-resourced settings, increasing the availability of the required resources and optimizing the healthcare supply chain.
Abordaje inmunológico del síndrome por deleción 22q11 Vásquez-Echeverri, Estefanía; Sierra, Federico; Trujillo-Vargas, Claudia M. ...
Infectio : revista de la Asociación Colombiana de Infectología,
01/2016, Volume:
20, Issue:
1
Journal Article
Peer reviewed
Open access
El síndrome por deleción 22q11 (SD22q11) es el síndrome por deleción cromosómica más frecuente en humanos y se caracteriza por la tríada clínica que incluye cardiopatía congénita, hipocalcemia e ...inmunodeficiencia primaria. El 85-90% de los pacientes tienen microdeleciones en el cromosoma 22q11.2. Tomando como punto cardinal la cardiopatía congénita, se diseñó una estrategia para tamización y diagnóstico de SD22q11 con énfasis en la evaluación inmune. Es imprescindible realizar una historia clínica detallada y, posteriormente, un análisis cuantitativo y funcional de las subpoblaciones de linfocitos en sangre periférica para clasificarlo en SD22q11 completo (<1%) o parcial (95-99%) e instaurar las pautas de tratamiento en aspectos como: aislamiento del paciente, vacunación, profilaxis contra microorganismos oportunistas, uso de productos sanguíneos irradiados y reconstitución inmunológica. Sin embargo, el abordaje del paciente debe ser multidisciplinario para detectar y prevenir complicaciones a largo plazo que pueden ser graves, especialmente en los pacientes con SD22q11 completo.
Inborn Errors of Immunity (IEI) are genetic diseases that affect the immune system. Telehealth is revolutionized clinical services around the world allowing remote access with technology that ...delivers care at a distance The University of Antioquia in Medellin (Colombia) initiated Telehealth in 2013 (Livinglab) and is currently one of the most advanced digital hospitals in Latin America.
To implement a tele-health service in immunology for Colombian patients with suspected IEI using the platform of Livinglab.
A cross-sectional, observational, descriptive study was designed for patients with suspected IEI referred by different medical specialties. Synchronous telehealth consultations were carried out by remote videolink, by two immunologists and a general practitioner. A standardized patient approach was used to evaluate patients. Demographic and clinical characteristics, IEI diagnostic and treatments prescribed were collected. Descriptive statistics were used for quantitative analysis of all variables.
Seventy-two patients were attended between May and November of 2022. Forty-four (61%) were female. Patients were from rural (65%) or urban (35%) areas. The medical specialties that most frequently referred patients were pediatrics, pneumology and infectious diseases. Main reasons for referral included: infections (79%), autoimmunity (7%), and allergies (4%).
Main clinical findings in patients were infections (97%), followed by allergies (32%), and autoimmune manifestations (3%). The diagnosis of IEI was established in 24% of patients while in 27%, the diagnosis of an IEI was discarded; 50% remain under suspicion and are being followed up actively. The most frequent diagnosis was predominantly antibody deficiency 16 (94%) and only 10% have molecular and genetic characterization. Nineteen percent of patients are under immunoglobulin therapy. No major technical difficulties were encountered during the study.
The use of telehealth in immunology was effective as a tool to identify Colombian patients with IEI. Our results show that this tool can be implemented for this specialty in Colombia and other countries with physical barriers that limit access to health care in remote as well as urban areas.
El síndrome por deleción 22q11.2 (SD22q11) es el síndrome por deleción cromosómica más frecuente en humanos y se caracteriza por la tríada clínica que incluye cardiopatía congénita, hipocalcemia e ...inmunodeficiencia primaria. El 85-90% de los pacientes tienen microdeleciones en el cromosoma 22q11.2. Tomando como punto cardinal la cardiopatía congénita, se diseñó una estrategia para tamización y diagnóstico de SD22q11 con énfasis en la evaluación inmune. Es imprescindible realizar una historia clínica detallada y, posteriormente, un análisis cuantitativo y funcional de las subpoblaciones de linfocitos en sangre periférica para clasificarlo en SD22q11 completo (<1%) o parcial (95-99%) e instaurar las pautas de tratamiento en aspectos como: aislamiento del paciente, vacunación, profilaxis contra microorganismos oportunistas, uso de productos sanguíneos irradiados y reconstitución inmunológica. Sin embargo, el abordaje del paciente debe ser multidisciplinario para detectar y prevenir complicaciones a largo plazo que pueden ser graves, especialmente en los pacientes con SD22q11 completo.
In humans, 22q11.2 deletion syndrome (22q11DS) is considered the most common chromosome deletion syndrome. It is characterised by a clinical triad that includes congenital heart disease, hypocalcaemia and primary immunodeficiency. Approximately 85–90% of patients with this syndrome exhibit microdeletions in chromosome 22q11.2. Using congenital heart disease as a starting point, we designed a strategy for the screening and diagnosis of 22q11DS with an emphasis on immunological evaluation. A detailed clinical history and the subsequent quantitative and functional analyses of the lymphocyte subpopulations in the peripheral blood is crucial to classify as complete (<1%) or partial (95–99%) the disease and to guide clinicians in terms of patient isolation, vaccination, prophylaxis for opportunistic infections, use of irradiated blood products and immunological reconstitution. However, multidisciplinary care is necessary to detect and prevent long-term complications that could be severe, particularly in cases of complete 22q11DS.
Antecedentes: En el fenotipo del asma alérgica, los síntomas empeoran después de la exposición a aeroalérgenos. En Latinoamérica, los ácaros son la principal causa de sensibilización, con variaciones ...según la población estudiada. Existen pocos reportes en nuestro medio del patrón de sensibilización en pacientes asmáticos. Objetivo: Describir los patrones de sensibilización a aeroalérgenos en pacientes pediátricos asmáticos en un periodo de cuatro años en el Hospital Pablo Tobón Uribe. Métodos: Estudio descriptivo retrospectivo en el que se revisaron las historias clínicas de pacientes asmáticos entre seis y 15 años, con pruebas cutáneas positivas. Se analizaron variables sociodemográficas, clínicas, patrón espirométrico e IgE sérica total. El análisis estadístico fue realizado en SPSS y fue aprobado por el comité de ética del Hospital Pablo Tobón Uribe. Resultados: 34 (61 %) pacientes fueron del sexo masculino y la edad promedio de inicio de los síntomas fue de tres años. Existió antecedente familiar en 21 pacientes (37.5 %). Al ingreso predominó el asma mal controlada, que se observó en 36 pacientes (65 %), seguida por el asma severa de difícil control en ocho (14 %), cinco pacientes requirieron ingreso a la unidad de cuidado intensivo por crisis asmática y 17 pacientes mostraron un patrón espirométrico obstructivo. Se observó rinitis alérgica en 50 pacientes (89 %) y conjuntivitis alérgica en 20 (35 %), que constituyeron las comorbilidades más comunes. Las sensibilizaciones más frecuentes fueron a ácaros 43 (77 %), epitelio de perro 14 (25 %) y a cucaracha 10 (18 %). El resultado de la IgE sérica fue de 825 UI/mL (rango intercuartílico de 144.5-998); 16 pacientes (28 %) continuaban en inmunoterapia. Conclusiones: Los ácaros constituyeron el patrón de sensibilización más común y la asociación con rinitis alérgica y crisis asmática fue frecuente. Identificar el tipo de aeroalérgenos a los que los pacientes asmáticos muestran sensibilidad es una medida costo-efectiva para direccionar el tratamiento y lograr un mejor control sintomático.
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