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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019564","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}
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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12014221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019568","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}
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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12014213/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019551","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}
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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12014217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019562","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":"Second part.","authors":"Andrés F Zea-Vera, Mónica Fernandes-Pineda","doi":"10.7705/biomedica.7813","DOIUrl":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019573","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}
Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega
{"title":"Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency","authors":"Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega","doi":"10.7705/biomedica.7414","DOIUrl":"10.7705/biomedica.7414","url":null,"abstract":"<p><p>Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The clinical features include growth retardation, microcephaly, triangle-shaped face, recurrent infections, fibroblast's excessive sensitivity to gamma-ionizing radiation, and hypogammaglobulinemia; also, low counts of subpopulations of B and T lymphocytes, with normal values of natural-killer cells. This manuscript aims to present an extremely rare case of combined immunodeficiency in a twenty-years-old man with non-consanguineous parents and a homozygote variant of the NHEJ1 gene. This case is the fiftieth reported in the literature and the first in Colombia, given the low prevalence of NHEJ1-related immunodeficiency and its difficult diagnosis due to scarce knowledge.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"16-21"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11895763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019575","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}
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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11809488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019552","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}
Lina M Castaño-Jaramillo, Olga Rodríguez, Natalia Vélez-Tirado
{"title":"Nutritional status in pediatric patients with predominant antibody deficiency","authors":"Lina M Castaño-Jaramillo, Olga Rodríguez, Natalia Vélez-Tirado","doi":"10.7705/biomedica.7398","DOIUrl":"10.7705/biomedica.7398","url":null,"abstract":"<p><strong>Introduction: </strong>Predominant antibody deficiency is the most frequent group of innate immunity errors, but information about patients’ nutritional status is scarce.</p><p><strong>Objectives: </strong>To characterize the nutritional status of Colombian patients with predominant antibody deficiencies.</p><p><strong>Material and methods: </strong>Material and methods. We analyzed medical charts of patients with predominant antibody deficiency in a pediatric hospital in Bogotá.</p><p><strong>Results: </strong>We analyzed 55 medical charts. The most frequent diagnoses were specific deficiencies of polysaccharide antibodies and immunoglobulin A, common variable\u0000immunodeficiency, and agammaglobulinemia. More than 70% of the patients had sinopulmonary infections, with pneumonia being the most frequent, followed by otitis and\u0000sinusitis. In children under five years, 45% had adequate weight for their height, 18% had a risk of malnutrition, and 18% had moderate acute malnutrition. Four-point-five percent had obesity, 4.5% showed overweight, and 9% had a risk of being overweight. Of those older than five years, 54% had an adequate body mass index, 22.5% showed overweight, 9.6% were at risk of thinness, and 9.6% were thin. We found that the risk of short stature and short stature per se were more frequent than the expected height in these patients. The percentages of patients with short stature were higher than those reported nationally.</p><p><strong>Conclusions: </strong>Due to the epidemic of childhood obesity, it will be more frequent to find overweight or obesity in children above five years. Therefore, finding short stature could be a more sensitive alarm sign for predominant antibody deficiency.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"51-62"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11991690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019570","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":"First part. A 45-year-old man with severe pneumonia, disseminated cytomegalovirus infection, and agammaglobulinemia","authors":"Mónica Fernandes Pineda, Andrés F Zea-Vera","doi":"10.7705/biomedica.7524","DOIUrl":"10.7705/biomedica.7524","url":null,"abstract":"<p><p>A 45-year-old male patient presented with a persistent cough lasting four months, accompanied by fever and significant weight loss.\u0000A chest computed tomography revealed cryptogenic pneumonia, and subsequent investigations identified a positive cytomegalovirus (CMV) viral load in bronchoalveolar lavage. A transbronchial biopsy confirmed intranuclear basophilic inclusions indicative of CMV infection. Additionally, blood tests returned positive results for CMV. Immunoglobulin levels revealed IgA < 0.13, IgG < 3, IgM < 0.25 (g/L). Bone marrow biopsy indicated an 80% hypercellularity without morphological alterations. Additional studies for agammaglobulinemia were asked for.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"48-50"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11849716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019555","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}
Omar-Javier Calixto, María-Alejandra Meneses-Toro, Paula Andrea Chacón, Mónica Acevedo-Godoy, Luisa Constanza Robayo, Juan Manuel Bello-Gualtero, Wilson Bautista-Molano, Verónica Noguera, Jaime Cortés, Consuelo Romero-Sánchez
{"title":"Allelic and haplotypic HLA analysis in patients with psoriatic arthritis: Low frequency of common alleles","authors":"Omar-Javier Calixto, María-Alejandra Meneses-Toro, Paula Andrea Chacón, Mónica Acevedo-Godoy, Luisa Constanza Robayo, Juan Manuel Bello-Gualtero, Wilson Bautista-Molano, Verónica Noguera, Jaime Cortés, Consuelo Romero-Sánchez","doi":"10.7705/biomedica.7555","DOIUrl":"10.7705/biomedica.7555","url":null,"abstract":"<p><strong>Introduction: </strong>Psoriatic arthritis is a complex disease, and human leukocyte antigens (HLA) are key to its development. Latin America and, specifically, Colombia, has scarce data about patients with psoriatic arthritis.</p><p><strong>Objective: </strong>To describe the genotypic, allelic and haplotypic frequency of HLA alleles in psoriatic arthritis and associate them with clinical variables.</p><p><strong>Materials and methods: </strong>We conducted a retrospective study involving adult patients with psoriatic arthritis, evaluated according to CASPAR criteria, between 2012 and 2023. We included healthy donors whose HLA-A, B, C, and DR were genotyped by PCR/SSO in a Luminex 100/200 xMAP™ device. We performed an HLA comparative analysis between healthy donors and psoriatic arthritis patients.</p><p><strong>Results: </strong>We included 401 healthy controls and 37 patients with psoriatic arthritis, in which we identified 46 genotypes, 75 alleles, and 32 haplotypes. The most frequent HLA were HLA-A*24 (37.1%), HLA-B*35 (20.8%), HLA-C*3 and HLA-C*7 (19.9% each), and HLADR* 4 (30%). Compared to healthy donors, the patient’s genotypic frequency was lower for HLA-A*02, HLA-A*11, HLA-B*35, HLA-DR*01, HLA-DR*07, HLA-DR*13, and HLA-DR*15 (p < 0.05), which means that even though HLA-B*35 was frequent in psoriatic arthritis, it's frequency was lower when compared to that of healthy controls. The frequency of HLA-A*24 and HLA-B*44 was different in cutaneous involvement (p < 0.05), HLA-B*40 and HLA-B*35 in joint involvement (p < 0.05), and HLA-A*26 and HLA-C*16 in extra-articular manifestations (p < 0.05). The allelic frequency of HLA-A*26:01 and HLA-C*16:01 in extra-articular manifestations was also significant. The frequency of HLA-Cw*6 was 6.7% and the allele HLA-B*27 was absent.</p><p><strong>Conclusions: </strong>The HLA analysis in psoriatic arthritis showed a low frequency of HLA-C*06 and absence of HLA-B*27, different from the information reported for Caucasian population. These results also revealed other alleles of interest. Found differences could be related to the important racial mixing of our population.</p>","PeriodicalId":101322,"journal":{"name":"Biomedica : revista del Instituto Nacional de Salud","volume":"44 Sp. 2","pages":"178-190"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12014218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019504","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}