Biomedica : revista del Instituto Nacional de Salud最新文献

{"title":"Variants in candidate genes and their interactions with smoking on the risk of acute coronary syndrome","authors":"Liliana Franco, Natalia Gallego, Cristian Velarde, Diana Valencia, Juan Pablo Pérez-Bedoya, Kelly Betancur, Kelly Marisancen, Paola Parra, Santiago Carvalho, Luisa Parra, Evert Jiménez, Carlos Martínez, Clara Saldarriaga, Juan Carlos Arango, Nathalia González-Jaramillo, Jenny García, Ana Valencia","doi":"10.7705/biomedica.7379","DOIUrl":"10.7705/biomedica.7379","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple genetic and environmental factors interact with the development of acute coronary syndrome. Smoking is one of the environmental factors that might alter the metabolic pathways shared by genes associated with this condition.</p><p><strong>Objective: </strong>To investigate the association of acute coronary syndrome with genetic variants related to inflammation, lipid metabolism, and platelet aggregation among subjects from the northeastern region of Colombia. The effects of interactions between polymorphisms and smoking were also evaluated.</p><p><strong>Materials and methods: </strong>We analyzed data from 330 acute coronary syndrome cases and 430 controls. Associations between 20 polymorphisms and acute coronary syndrome were evaluated using logistic regression, adjusting for confounders. Gene and smoking interaction terms were calculated, and variants were analyzed separately in smokers and non-smokers for their association with acute coronary syndrome.</p><p><strong>Results: </strong>Two variants were associated with acute coronary syndrome, rs10455872 in the LPA gene (OR = 2.69; 95% CI: 1.61-4.49) and rs429358 in the APOE gene (OR = 1.93; 95% CI: 1.30-2.87). We identified smoking interactions with the variants rs6511720 in the LDLR gene (p = 0.04) and rs2227631 in the SERPINE1 gene (p = 0.02), with significant effects in non-smokers (rs6511720: OR = 0.40; 95% CI: 0.19-0.88; and rs2227631: OR = 0.69; 95% CI: 0.48-1.00), but not in smokers (rs6511720: OR = 1.28; 95% CI: 0.66-2.46; and rs2227631: OR = 1.30; 95% CI: 0.91-1.87).</p><p><strong>Conclusions: </strong>Variants in the candidate genes LPA and APOE are associated with an increased risk of acute coronary syndrome in a population from northeastern Colombia. The effects of rs6511720 in LDLR and rs2227631 in SERPINE1 differ according to smoking habits and are significant in non-smokers. These results are helpful for early risk screening of acute coronary syndrome, mainly in individuals without defined conventional risk factors.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"45 1","pages":"107-117"},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12199694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144000994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiological characteristics of pediatric patients with invasive candidiasis in an intensive care unit in southwestern Colombia","authors":"Paola Marsela Pérez-Camacho, Carmen Vargas-Moran, Laura Torres-Canchala, Camila Ariza-Insignares, Lina M Sandoval-Calle, Inés Elvira Gómez-Hernández, Paula Solís-Núñez, Juliana V Cedeño-Castaño, Ana M Aguilar-González, Jaime Alberto Patiño-Niño","doi":"10.7705/biomedica.7444","DOIUrl":"10.7705/biomedica.7444","url":null,"abstract":"<p><p>Introduction. Candida species are the main etiological agent of fungal infections in the pediatric population, especially in neonates and in intensive care unit patients. Invasive candidiasis is associated with unfavorable clinical outcomes, such as prolonged hospitalization time, and mortality.\u0000Objective. To describe demographic, clinical and microbiological characteristics of pediatric patients (older than one month and younger than 18 years) hospitalized in a pediatric intensive care unit with a diagnosis of invasive candidiasis between 2012 and 2020.\u0000Materials and methods. A retrospective, observational, cohort study was conducted at a high-complexity center in southwestern Colombia.\u0000Results. We included 100 pediatric patients diagnosed with invasive candidiasis, 51% female with a median age of 6.5 years (IQR = 2-11.5). We obtained 114 isolates of Candida spp. The median hospital stay was 51 days (IQR = 29-77), with a pediatric intensive care unit stay of 27 days (IQR = 16-58). Tachycardia was present in 85% of the patients 24 hours before Candida spp. isolation. Nearly half of the isolates were found in bloodstream samples (49.1%), respiratory samples (21.9%), and peritoneal fluid (20.2%). The most frequently isolated species were C. albicans (36.8%), followed by non-albicans species, such as C. parapsilosis (22.8%), and C. tropicalis (21.1%). The overall mortality rate at discharge was 36%.\u0000Conclusions. In pediatric intensive care units, invasive candidiasis is a common condition representing a significant threat due to its high morbidity, prolonged hospital stay, and considerable mortality rate. While C. albicans remains as the predominant species, non-albicans Candida species exhibit a growing trend, posing new diagnostic and therapeutic challenges.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"45 1","pages":"151-164"},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12212416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Law 2287 of 2023 on biobanks in Colombia: A bioethical reflection on its scope","authors":"Jorge Mario Vélez-Arango, Doris Yancelly Gil-Espinal, Carolina Hurtado-Montoya, Mónica Massaro-Ceballos","doi":"10.7705/biomedica.7203","DOIUrl":"10.7705/biomedica.7203","url":null,"abstract":"<p><p>The growing scientific and biotechnological interest in biobanks highlights the need to establish guidelines that allow for important scientific advances and guarantee the rights of the donors of biological samples and their associated data. In line with this need, on January 13, 2023, the Congress of Colombia enacted Law 2287 on biobanks, beginning a path that other countries have followed for almost 25 years. As a result, new questions Will arise that are beyond the scope of this regulation and transcend bioethical conflicts.\u0000This manuscript aims to summarize key aspects of the mentioned law and reflects on its scope from bioethics, the ethics of biomedical research, and other bioethical currents or theories.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"45 1","pages":"25-38"},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12150846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical, histopathological, and immunohistochemical characteristics of patients with sicca syndrome with a focus score ≥ 1 in the minor salivary gland biopsy","authors":"Andrés Felipe Lamos-Duarte, Rafael Parra-Medina, Carlos Santiago Rivadeneira-Chamorro, Juan Pablo Castañeda-González, Alejandro Escobar, Adriana Rojas-Villarraga, Gabriel Santiago Rodríguez-Vargas, Ana María Arredondo, Héctor Cubides, José Fernando Polo, Juan José Capasso, Claudia Ibañez, Jairo Hernán Cajamarca-Barón","doi":"10.7705/biomedica.7315","DOIUrl":"10.7705/biomedica.7315","url":null,"abstract":"<p><strong>Introduction: </strong>Sjögren’s syndrome is a systemic autoimmune disease. The usefulness of immunohistochemistry in minor salivary gland biopsies has been described to be helpful in indirectly characterizing the lymphocyte phenotype in difficult diagnosis cases.</p><p><strong>Objective: </strong>To describe sociodemographic, clinical, serological, histopathological, and immunohistochemical variables in patients with sicca syndrome and a minor salivary gland biopsy focus score greater than or equal to one.</p><p><strong>Materials and methods: </strong>We conducted an observational, retrospective study that included patients under study for potential sicca syndrome whose minor salivary gland biopsy was available and had obtained a focus score greater than or equal to one. Immunohistochemistry was performed on the minor salivary gland biopsy with chromogen red staining for CD8 T lymphocytes and brown staining for CD4 T lymphocytes. Expression ratio of CD20:CD3 and CD4:CD8 markers was determined with the MoticEasyScan Pro 6™ (MOTIC) device and the QuPath™ software. Qualitative variables were analyzed using the chi-square or Fisher’s exact test, and quantitative variables were analyzed according to their assumption of normality.</p><p><strong>Results: </strong>Twenty-eight patients were analyzed: 16 patients had Sjögren’s syndrome, and 8 of them had polyautoimmunity. An association was found between atrophy in the minor salivary gland biopsy and development of polyautoimmunity (OR = 11.1; 95% CI: 1.12-112; p value = 0.033). The CD20:CD3 and CD4:CD8 ratios were normal, with no statistically significant differences between patients with and without Sjögren’s syndrome. In the subgroup of patients with Sjögren’s syndrome, CD4 T lymphocytes were predominant, with 15 cases out of 16 with CD4:CD8 ratios equal to or greater than 2:1.</p><p><strong>Conclusions: </strong>Glandular atrophy was associated with the development of polyautoimmunity and a predominance of CD4 T lymphocytes in patients with Sjögren’s syndrome. This finding highlights the potential value of immunohistochemistry of minor salivary gland biopsies in this group.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"45 1","pages":"80-93"},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178605/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between serum ferritin and proinflammatory markers in late pregnancy: An exploratory analysis from Cartagena, Colombia","authors":"Alejandra Puerto, Nelson Rafael Alvis-Zakzuk, Walter Annicchiarico, Nelson Alvis-Guzmán, Josefina Zakzuk","doi":"10.7705/biomedica.7467","DOIUrl":"10.7705/biomedica.7467","url":null,"abstract":"<p><strong>Introduction: </strong>In a previous study, we identified an inverse relationship between adverse perinatal outcomes and iron status during late pregnancy of women recruited from a maternal hospital in Cartagena, Colombia. Some of these outcomes have also been linked to maternal inflammatory states. However, there is currently no clarity regarding the relationship between iron levels and proinflammatory markers during this period.</p><p><strong>Objective: </strong>To estimate the relationship between inflammatory markers and serum ferritin in third-trimester pregnancies.</p><p><strong>Materials and methods: </strong>Serum ferritin, hemoglobin, and proinflammatory cytokine levels were determined in women in Cartagena in their third trimester of pregnancy. We analyzed the relationship between ferritin levels and proinflammatory cytokines, as well as the relationship between serum ferritin, hemoglobin, and inflammatory cytokine levels with adverse perinatal outcomes.</p><p><strong>Results: </strong>The levels of IL-6 were significantly associated with serum ferritin levels (β = 0.42, SE = 0.21, p = 0.04) but not with maternal age. Maternal serum ferritin had a positive weak correlation with the absolute number of lymphocytes and monocytes. Hemoglobin and maternal serum ferritin were weakly and inversely associated with birth weight. Serum ferritin but not IL-6 or IL-8 was associated with preterm birth.</p><p><strong>Conclusions: </strong>We observed direct and mild associations of serum iron markers (serum ferritin, hemoglobin, and hematocrit) with lymphocyte counts. The inflammation marker, IL-6, was mildly associated with serum ferritin levels in late pregnancy. Women with elevated white blood cell counts and serum ferritin levels tended to have infants with lower birth weights. This fact suggests a potential involvement of iron in inflammatory processes during pregnancy, and conditions associated with inflammation in the final trimester may have adverse effects on perinatal outcomes.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"45 1","pages":"94-106"},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Savings to the Colombian health system with the implementation of externally funded oncology clinical trials","authors":"Sandra Aruachan Vesga, Manuel González, Danis M Rojas, Javier Ospina, Santiago Duque-Varela, Andrés Ángel Castaño","doi":"10.7705/biomedica.7239","DOIUrl":"10.7705/biomedica.7239","url":null,"abstract":"<p><p>Introduction. Spending on drugs to treat cancer will increase by 9-12% annually until 2025. For health systems in high and middle-income countries –such as Colombia– and with an increasing trend of new cancer cases, clinical research can contribute to the efficient use of the system resources available without undermining the timeliness and quality of healthcare.\u0000Objective. To calculate the savings generated to the Colombian health system by the implementation of externally funded clinical trials for cancer.\u0000Materials and methods. We conducted an observational, longitudinal, descriptive, and retrospective study analyzing participant’s medical records of clinical trials between 2016 and 2022 at the Clínica IMAT Oncomédica Auna, Colombia.\u0000Results. The total savings to the health system for external financing of oncology drugs was USD $1,526,320, and the monthly weighted average savings per patient was USD $3,257. The participation of breast cancer patients in randomized controlled clinical trials (n = 138) accounted for 24% (USD $369,363) of the total savings. Participants with clinical stage IV and III accounted for 41.7% (USD $636,475) and 31.06% (USD $473,159), respectively, of the total savings to the general social security health system in Colombia from external financing of oncological drugs.\u0000Conclusion. The participation of cancer patients in clinical trials mitigated costs to the Colombian health system, especially in women with breast cancer and in those patients with clinical stage IV of the disease.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"45 1","pages":"51-63"},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12147872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Four-month-old infant with chronic granulomatous disease and invasive aspergillosis with bone involvement","authors":"Héctor Gómez-Tello, Estefany Graciela Mamani-Velásquez, Ana Karen Gómez-Gutiérrez, Carlos Sánchez-Flores, Virginia Lora-Téllez, Sara Espinosa-Padilla, Lizbeth Blancas-Galicia","doi":"10.7705/biomedica.7537","DOIUrl":"10.7705/biomedica.7537","url":null,"abstract":"<p><p>Chronic granulomatous disease is the inborn error of immunity with the highest frequency of invasive aspergillosis. In this context, invasive aspergillosis is frequent in adolescence, with rare cases before one year of age. We present a case of chronic granulomatous disease and invasive aspergillosis in a four-month-old infant.\u0000The patient was a male infant living in jail with his hypothyroid mother. He presented with a tumor in the left axillary region when he was four months old, and the chest X-ray suggested rib fractures. The patient was hospitalized on suspicion of child abuse. The chest computed tomography scan showed axillary abscess, rib osteolysis, pneumonia, and pulmonary nodules. He was treated with broad-spectrum antibiotics, and then he was discharged.\u0000Four months later, he was readmitted with fever and extension of the purulent abscess to the left scapular region; a computed tomography scan showed worsening images.\u0000Aspergillus fumigatus was isolated from the abscess pus, leading to an invasive aspergillosis diagnosis. The patient was treated with voriconazole for 28 days, and\u0000then he was discharged. The chronic granulomatous disease was diagnosed by the dihydrorhodamine test. The mutated gene causing the inborn error of immunity was CYBB with the variant c.80_83del/Y; the mother was the carrier (c.80_83del/WT).\u0000At 12 months of age, the patient was readmitted for invasive aspergillosis, refractory to treatment, and died.\u0000This exceptional case teaches us how environmental conditions determine exposure to infectious agents in chronic granulomatous disease patients. Also, it illustrates that invasive aspergillosis can develope in infants with this pathology and should be treated aggressively.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"31-38"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11991688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding secondary hypogammaglobulinemia and its implications for cancer prognosis in children: A retrospective cohort study","authors":"Ana Lucía Guzmán, Isabella Villamil, Sofía Martínez-Betancur, Oriana Arias-Valderrama, Jacobo Triviño-Arias, Jessica Largo, Viviana Lotero, Alexis Franco, Ximena Castro, Pamela Rodríguez, Luz Angela Urcuqui, Diego Medina, Manuela Olaya","doi":"10.7705/biomedica.7584","DOIUrl":"10.7705/biomedica.7584","url":null,"abstract":"<p><strong>Introduction: </strong>Immunodeficiencies are disturbances in the immune system that can affect cell function, quantity, or both. They can be either primary, associated with genetic defects, or secondary, linked to external factors such as hemato-oncological conditions. Secondary immunodeficiencies can lead to the initiation, reactivation, or acceleration of latent, residual, or active infections, which are the leading cause of mortality.</p><p><strong>Objective: </strong>To elucidate the occurrence and clinical characteristics of hypogammaglobulinemia in pediatric oncology patients in a high-complexity hospital in Colombia between January 2020 and December 2022.</p><p><strong>Materials and methods: </strong>We conducted an observational study with patients under 18 years old with a cancer diagnosis, serum immunoglobulins measurements at the time of the diagnosis, and later follow-up during treatment.</p><p><strong>Results: </strong>We included 133 patients with a median age of eight years. Based on local guidelines of immunoglobulin levels for age, all patients had normal values at the time of cancer diagnosis. In the follow-up, the most significant reduction among all ages was for IgA and was related to infections and death.</p><p><strong>Conclusions: </strong>Our findings highlight the importance of measuring immunoglobulin levels at the time of the cancer diagnosis, as hypogammaglobulinemia may be linked to a poorer prognosis. Early detection could potentially improve patient outcomes.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"191-197"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12014216/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cruising the transition: Challenges and opportunities when caring for immunity inborn error patients","authors":"Andrés Felipe Zea-Vera, Lina María Castaño-Jaramillo","doi":"10.7705/biomedica.7815","DOIUrl":"10.7705/biomedica.7815","url":null,"abstract":"","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"7-9"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11820703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Red flags to suspect inborn errors of immunity in patients with autoimmune diseases","authors":"Natalia Vélez, Juliette De Ávila, Jaime Cortés, Nelson Barrero, Leosirlay Rojas, Juan Manuel Bello, Consuelo Romero-Sánchez","doi":"10.7705/biomedica.7561","DOIUrl":"10.7705/biomedica.7561","url":null,"abstract":"<p><p>Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity. The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review. The study followed the systematic reviews and meta-analysis guidelines (PRISMA). After selection, we included 36 articles, and their methodological quality was verified using the Joanna Briggs Institute tools for individual risk of bias analysis. The principal red flags in autoimmune cytopenias are chronic, recurrent, and refractory cytopenias, recurrent infection, severe infectious complications associated with immunosuppressive treatment, and chronic lymphoproliferation. In systemic lupus erythematosus, red flags include age of onset before five years, severe organ involvement, chilblain lesions, and chronic lymphoproliferation. For inflammatory bowel diseases, red flags are an age of onset before two years, resistance to conventional therapies, atypical endoscopic or histologic findings, and consanguineous parents. Autoimmune diseases may be the primary manifestation of inborn errors of immunity in pediatric and adult patients. An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"236-262"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12014212/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}