Xareni Berriozábal-Villarruel, Guadalupe Fernanda Godínez-Zamora, Patricia Baeza-Capetillo, Uriel Pérez-Blanco, Sara Elva Espinosa-Padilla, Jesús Aguirre-Hernández, Lizbeth Blancas-Galicia, Omar Josué Saucedo-Ramírez
{"title":"Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital","authors":"Xareni Berriozábal-Villarruel, Guadalupe Fernanda Godínez-Zamora, Patricia Baeza-Capetillo, Uriel Pérez-Blanco, Sara Elva Espinosa-Padilla, Jesús Aguirre-Hernández, Lizbeth Blancas-Galicia, Omar Josué Saucedo-Ramírez","doi":"10.7705/biomedica.7565","DOIUrl":"https://doi.org/10.7705/biomedica.7565","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic granulomatous disease is a congenital immune disorder characterized by increased susceptibility to fungal and bacterial infections and dysregulated inflammation. It is caused by defects in the NADPH oxidase and EROS protein.</p><p><strong>Objective: </strong>To characterize clinically and genetically four patients with chronic granulomatous disease at the Hospital Infantil de México Federico Gómez.</p><p><strong>Materials and methods: </strong>Patients diagnosed with chronic granulomatous disease by the dihydrorhodamine oxidase technique were molecularly and genetically characterized by measuring NADPH oxidase subunit expression and exome sequencing and analysis. The different clinical variables were obtained from clinical files, and each case was described.</p><p><strong>Results: </strong>We described four male patients with chronic granulomatous disease: two with pathogenic variants in CYBB, one with CYBB and adjacent genes deleted, and one without p47phox expression. Mothers of the three patients with mutated CYBB were carriers. All three cases with CYBB had severe and recurrent infections in addition to Calmette-Guérin bacillus infection as the initial manifestation. The autosomal recessive case of p47phox deficiency had the mildest clinical presentation. Deleting CYBB and several contiguous genes was associated with a poor prognosis. None of the patients received hematopoietic stem cell transplantation.</p><p><strong>Conclusions: </strong>Chronic granulomatous disease, secondary to pathogenic variants in CYBB was the most common in these Mexican patients. The carrier mothers should be\u0000followed clinically because of the potential risk of inflammatory, autoimmune, and infectious manifestations. One of the first manifestations was Calmette-Guérin bacillus infection, and in countries such as Mexico, where this vaccine is administered, cases with any type of adverse reaction should be evaluated to rule out chronic granulomatous disease.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"107-117"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sebastián Gutiérrez-Hincapié, Carlos Muskus-López, Isaura Pilar Sánchez, José Luis Franco-Restrepo, Claudia M Trujillo-Vargas
{"title":"First pilot study for newborn screening of severe T and B lymphopenias in Colombia","authors":"Sebastián Gutiérrez-Hincapié, Carlos Muskus-López, Isaura Pilar Sánchez, José Luis Franco-Restrepo, Claudia M Trujillo-Vargas","doi":"10.7705/biomedica.7568","DOIUrl":"https://doi.org/10.7705/biomedica.7568","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital lymphopenias cause increased susceptibility to infections in children apparently healthy at birth. Earlier detection of these conditions would facilitate prompt treatment, prevent potentially serious disease complications and early deaths, and save healthcare resources.</p><p><strong>Objective: </strong>To perform a pilot study for neonatal screening of congenital lymphopenias by the quantification of TREC and KREC –T- and B-cell receptor excision circles– in peripheral blood samples from newborns in Medellín, Colombia.</p><p><strong>Materials and methods: </strong>Blood samples from 1,092 newborns and six referred patients with suspected lymphopenia were collected by heel or toe-finger prick and dropped onto a filter paper. Thereafter, DNA was extracted and levels of TRECs and KRECs were measured by qPCR.</p><p><strong>Results: </strong>The six patients with suspected lymphopenia showed undetectable or very low TREC levels. All newborns screened presented normal TREC and KREC levels. A positive correlation was found between TREC or KREC values quantified from two different filter papers. Detectable levels of the receptor excision circles decrease considerably after 24 weeks of the dried blood spot sample storage. We identified a positive association between low TREC levels and low birth weight; and a negative correlation between KREC values and prematurity. Finally, no statistical differences were found between TREC or KREC levels and delivery method.</p><p><strong>Conclusion: </strong>We describe the first preliminary study for the early detection of lymphopenias in Colombia. We proposed to use a cut-off value of 119 and 69 copies/μl blood of TREC and KREC, respectively for future newborn screening programs in our country.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"94-106"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia","authors":"Mónica Fernandes Pineda, Andrés F Zea-Vera","doi":"10.7705/biomedica.7533","DOIUrl":"https://doi.org/10.7705/biomedica.7533","url":null,"abstract":"<p><strong>Introduction: </strong>Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient.</p><p><strong>Objective: </strong>To conduct a comprehensive analysis of the correlation between phenotypic and molecular diagnoses in patients with confirmed inborn errors of immunity at a tertiary hospital in Cali, Colombia.</p><p><strong>Materials and methods: </strong>We conducted a retrospective study in which we sequentially evaluated all available institutional medical records with a diagnosis of inborn errors of immunity.</p><p><strong>Results: </strong>In the Clinical Immunology Service of the Hospital Universitario del Valle, 517 patients were evaluated. According to the IUIS-2022 classification, 92 patients (17.35%) were definitively diagnosed with an inborn error of immunity. Of these, 38 patients underwent genetic studies. The most prevalent category was predominantly antibody deficiencies (group III) (38/92 - 41.3%). A broad spectrum of genetic defects, novel and previously reported, were described, including mutations in the following genes: ATM, BTK, ERBIN, MAB21L2, RAG2, SAVI, SH2D1A, STAT1, SYK, and TMEM173. Less frequent findings included cases of the WHIM syndrome, SYK gain-of-function, and IL-7 deficiency.</p><p><strong>Conclusions: </strong>The establishment of the Clinical Immunology Service in the Hospital Universitario del Valle has emerged as a pivotal resource, catering to individuals with limited financial means and covered by public health insurance within the southwest region of Colombia. Molecular genetics confirmatory diagnosis was achieved in 38 patients (41.3%) with inborn errors of immunity and changed the diagnosis in 24 cases (26%).</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"168-177"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ana M Aristizábal, Lina P Montaña, Jaiber Gutiérrez, Diego Medina, Alexis A Franco, Eliana Manzi, Ángela Devia Zapata, Walter Mosquera
{"title":"Intra-mesenteric steroids for steroid-refractory graft-versus-host disease in pediatric patients: A safe option.","authors":"Ana M Aristizábal, Lina P Montaña, Jaiber Gutiérrez, Diego Medina, Alexis A Franco, Eliana Manzi, Ángela Devia Zapata, Walter Mosquera","doi":"10.7705/biomedica.7394","DOIUrl":"https://doi.org/10.7705/biomedica.7394","url":null,"abstract":"<p><strong>Introduction: </strong>Graft-versus-host disease is a serious complication after hematopoietic stem cell transplantation and is a major cause of death post-transplantation. Approximately 50% of acute graft-versus-host disease patients do not respond to systemic steroids and their prognosis is poor regardless of the treatment. This study describes our experience with pediatric patients diagnosed with steroid-refractory graft-versus-host disease who received intra-mesenteric steroid treatment.</p><p><strong>Objective: </strong>To determine the outcomes of intra-mesenteric steroid use in the management of pediatric patients diagnosed with refractory graft-versus-host disease.</p><p><strong>Materials and methods: </strong>The study included patients under 18 years old with allogeneic hematopoietic stem cell transplantation who underwent intra-mesenteric steroid injection for resistant gastrointestinal graft-versus-host disease between January, 2016, and December, 2021. Methylprednisolone was administered via intra-arterial injection through the celiac trunk and the superior and inferior mesenteric arteries.</p><p><strong>Results: </strong>We collected data on 21 patients: nine (90%) responded with a subjective decrease in fecal output and a reduction in bilirubin and transaminases. Seven patients required a second intra-mesenteric injection and presented a complete response in 85% of the cases. Only one patient experienced local complications after the procedure. Twelve patients (57%) died with one death due to acute graft-versus-host disease.</p><p><strong>Conclusion: </strong>Reports in the adult population have shown an approximately 50% response rate with few complications, making it a second-line management standard. As far as we know, this is the largest pediatric cohort reported in Latin America. Our findings suggest that intra-mesenteric steroid administration for managing hepatic and gastrointestinal graftversus-host disease may be considered an early adjuvant treatment in patients with steroidrefractory graft-versus-host disease.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"63-71"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.","authors":"Mónica Fernandes-Pineda, Andrés F Zea-Vera","doi":"10.7705/biomedica.7436","DOIUrl":"https://doi.org/10.7705/biomedica.7436","url":null,"abstract":"<p><p>Activated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. This syndrome results in an excessive activation of the phosphoinositide 3-kinase signaling pathway. Gainof-function mutations in the gene PIK3R1 (encoding p85α, p55α, and p50α) lead to the development of the activated PI3K δ syndrome. Notably, the clinical presentations of this syndrome often closely resemble those of other primary immunodeficiencies. We present a case involving a 15-year-old male who displayed an immunological phenotype that bore a striking resemblance to hyper-IgM syndrome. Whole exome sequencing was undertaken to pinpoint the underlying genetic mutation. Our investigation successfully identified a heterozygous splice site mutation previously reported within the well-established hotspot of the PIK3R1 gene (GRCh37, c.1425+1 G>T). The diverse spectrum of inborn errors of immunity underscores the pivotal role of identifying gene mutations, particularly in patients presenting clinical manifestations spanning autoimmune disorders, lymphoproliferative conditions, and antibody deficiencies. Such precise genetic diagnoses hold significant potential for improving patient care and management.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"10-15"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrea Murillo, Darly Marín, Jacobo Triviño, Oriana Arias, Diana Duarte, Paola Pérez, Jaime Patiño, Harry Pachajoa, Diego Medina, Alexis Franco, Manuela Olaya-Hernández
{"title":"Non-cystic fibrosis bronchiectasis in pediatrics: A cohort profile of patients with inborn errors of immunity at a referral center in Cali, Colombia","authors":"Andrea Murillo, Darly Marín, Jacobo Triviño, Oriana Arias, Diana Duarte, Paola Pérez, Jaime Patiño, Harry Pachajoa, Diego Medina, Alexis Franco, Manuela Olaya-Hernández","doi":"10.7705/biomedica.7558","DOIUrl":"https://doi.org/10.7705/biomedica.7558","url":null,"abstract":"<p><p>Introduction. Inborn errors of immunity are frequently associated with bronchiectasis. The diagnostic performance of these inborn errors has improved because the association of some of these entities with progressive airway damage is better known. This knowledge has allowed recognition and appropriate intervention reducing deterioration of the pulmonary function and improving quality of life.\u0000Objective. To describe a group of patients with bronchiectasis not related to cystic fibrosis who were diagnosed with inborn errors of immunity and have been studied in an immunology reference center in Colombia.\u0000Materials and methods. We conducted an observational, descriptive, and retrospective study with participating patients under 18 years, diagnosed with inborn errors of immunity and non-cystic fibrosis bronchiectasis, between December 2013 and December 2023 at the Fundación Valle del Lili in Cali, Colombia.\u0000Results. Seventeen patients were diagnosed with non-cystic fibrosis bronchiectasis and inborn errors of immunity. Their mean age was nine years. The lower pulmonary lobe was the most frequently affected segment, and in most cases, unilaterally. The most prevalent alteration was predominantly antibody inmunodeficiency, followed by combined immunodeficiencies associated with syndromes. Thirteen patients had humoral immunity compromise, while 4 exhibited humoral and cellular immunity alterations. Additionally, 12 patients presented genetic mutations related to their phenotype. Thirteen patients, underwent supplementation with intravenous immunoglobulin, and 3 died.\u0000Conclusion. The inborn errors of immunity most frequently associated with noncystic fibrosis bronchiectasis, were predominantly antibody deficiency and combined immunodeficiencies with syndromic features.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"131-139"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sofía Martínez, Jacobo Triviño, Oriana Arias, Diego Medina, Alexis Franco, Jaime Patiño, Paola Pérez, Harry Pachajoa, Pamela Rodríguez, Manuela Olaya-Hernández
{"title":"A hidden enemy: Understanding the hemophagocytic syndrome in children under five years of age in a high-complexity institution in southwestern Colombia","authors":"Sofía Martínez, Jacobo Triviño, Oriana Arias, Diego Medina, Alexis Franco, Jaime Patiño, Paola Pérez, Harry Pachajoa, Pamela Rodríguez, Manuela Olaya-Hernández","doi":"10.7705/biomedica.7526","DOIUrl":"https://doi.org/10.7705/biomedica.7526","url":null,"abstract":"<p><p>Introduction. Hemophagocytic syndrome is an under-recognized condition with high mortality in the pediatric population. It is characterized by excessive activation of immune cells and cytokine release, leading to persistent inflammation. Hemophagocytic syndrome can be primary or secondary and associated with different triggers.\u0000Objective. To describe 12 clinical cases of children under five years of age with hemophagocytic syndrome in a high-complexity institution in southwestern Colombia.\u0000Materials and methods. We present a retrospective series of 12 cases of hemophagocytic syndrome in children under five years of age treated at a high-complexity institution in Colombia between 2019 and 2022.\u0000Results. The median age of the patients was one year and 7 were male. Fever and splenomegaly were the most common clinical manifestations observed in 11 of the\u0000patients. The predominant laboratory findings included hyperferritinemia (n = 11), hypertriglyceridemia (n = 10), bicytopenia (n = 6), and pancytopenia (n = 2). Eleven cases had elevated lactate dehydrogenase levels. Genetic studies were conducted in 7 patients. Regarding treatment, the full HLH-2004 protocol was administered to 5 cases, while 3 underwent hematopoietic stem cell transplantation. Three patients died.\u0000Conclusion. We highlight the complexity of the hemophagocytic syndrome, especially in children under five years old, because the low prevalence and non-specific clinical presentation of the disease contribute to its underdiagnosis. Emphasis is placed on identifying triggers, performing genetic evaluation for accurate and early diagnosis, adopting a multidisciplinary approach, and considering early hematopoietic stem cell transplantation to improve morbidity and mortality outcomes.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"140-154"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrés F Zea-Vera, Carlos Andrés Rodríguez, Sebastián Giraldo, Mario Alejandro Chacón, Luis Fernando Guerrero, Ricardo Mosquera, Raúl Andrés Vallejo, Fabio Samir Vargas, María Andrea García, María A Rengifo, Anilza Bonelo, Maximiliano Parra
{"title":"Infections, autoimmunity and immunodeficiencies are the leading etiologies of non-cystic fibrosis bronchiectasis in adults from the southwest of Colombia.","authors":"Andrés F Zea-Vera, Carlos Andrés Rodríguez, Sebastián Giraldo, Mario Alejandro Chacón, Luis Fernando Guerrero, Ricardo Mosquera, Raúl Andrés Vallejo, Fabio Samir Vargas, María Andrea García, María A Rengifo, Anilza Bonelo, Maximiliano Parra","doi":"10.7705/biomedica.7500","DOIUrl":"https://doi.org/10.7705/biomedica.7500","url":null,"abstract":"<p><strong>Introduction: </strong>Non-cystic fibrosis bronchiectasis is a complex medical condition with multiple etiologies, characterized by chronic productive cough and radiologic evidence of airway lumen dilation and wall thickening. Associated exacerbations and declining lung function contribute to increasing disability and mortality. There are no data about the prevalence of non-cystic fibrosis bronchiectasis etiologies in the Colombian population.</p><p><strong>Objective: </strong>To investigate non-cystic fibrosis bronchiectasis etiology and clinical characteristics in adults evaluated in the southwest of Colombia.</p><p><strong>Materials and methods: </strong>We conducted a cross-sectional, non-interventional study. Subjects diagnosed with non-cystic fibrosis bronchiectasis were referred to by their healthcare providers and then enrolled between October 2018 and April 2021. Medical records and radiological studies were evaluated. Participants underwent laboratory tests, including complete blood count, serum immunoglobulin levels, and, in some cases, additional tests.</p><p><strong>Results: </strong>We included 161 subjects. The average age was 50 years old, and 59% were females. Bronchiectasis etiology was identified in 84.6% of the cases. Postinfectious (34.6%) and immune disorders (25.3%), represented by autoimmunity (13.6%) and immunodeficiency (11.7%), were the leading causes. Gender differences were noted in autoimmune (females: 18.8% versus males: 6.1%, p = 0.021) and immunodeficiency-related bronchiectasis (males: 21.2% versus females 5.2%, p = 0.002). Immunodeficiencies-associated bronchiectases were more frequent in subjects under 50 years of age, while chronic obstructive pulmonary disease-associated bronchiectases were common in subjects over 50 years of age.</p><p><strong>Discussion: </strong>The etiologies of non-cystic fibrosis bronchiectasis in Colombia are diverse, exhibiting notable differences from other global regions. Serum immunoglobulin levels and clinical immunologist consultation should be prioritized in diagnosing patients with unclear bronchiectasis etiology, particularly those with recurrent sinopulmonary infections.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"80-93"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Second part.","authors":"Andrés F Zea-Vera, Mónica Fernandes-Pineda","doi":"10.7705/biomedica.7813","DOIUrl":"https://doi.org/10.7705/biomedica.7813","url":null,"abstract":"","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"263-270"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lina M Castaño-Jaramillo, Alejandra Munevar, Andrea Carolina Marín, Milena Villamil, Sonia Restrepo, Natalia Vélez
{"title":"Clinical and immunological features of specific antibody deficiency in a pediatric hospital in Colombia","authors":"Lina M Castaño-Jaramillo, Alejandra Munevar, Andrea Carolina Marín, Milena Villamil, Sonia Restrepo, Natalia Vélez","doi":"10.7705/biomedica.7562","DOIUrl":"https://doi.org/10.7705/biomedica.7562","url":null,"abstract":"<p><p>Introduction. Specific antibody deficiency is an innate error of humoral immunity characterized by normal levels of immunoglobulin isotypes, recurrent infections, and a reduced reaction to polysaccharide antigens in vaccines.\u0000Objective. To describe the clinical and immunological characteristics of patients with specific antibody deficiency attending a pediatric hospital in Bogotá between May 2021 and September 2023.\u0000Materials and methods. We reviewed the medical records of 16 patients with specific antibody deficiency.\u0000Results. The median age at diagnosis was six and a half years. Nine were male, and 7 had a history of prematurity. Eleven patients had adequate nutritional status, and 7 had standard height. The most frequent recurrent infection was pneumonia, affecting 12 patients; more than half of them experienced some associated complications. The most common phenotype was moderate, and 15 of the individuals received immunoglobulin as definitive treatment.\u0000Conclusion. Specific antibody deficiency is a frequently underdiagnosed functional alteration of the immune system. It should be suspected in patients experiencing recurrent otitis media and pneumonia or in cases complicated by septic shock, pleural effusion, or necrotizing pneumonia.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"72-79"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}