Biomedica[JOURNAL]
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200 papers
Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency.
Navarro AM, Mantilla G, Fernández JA … +3 more , Unigarro MF, Suárez A, Ortega MC
Biomedica · 2024 Dec · PMID 39836852 · Full text
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-joi...
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.
Recommendations on vaccination in children and adolescents with inborn errors of immunity according to the expanded Colombian immunization program.
Cortés-Marín N, Sosa-Ávila LM, Arias AF … +2 more , Escobar-Cortés LD, Rojas-Hernández JP
Biomedica · 2024 Dec · PMID 39836851 · Full text
In this manuscript, we carried out an exhaustive analysis of the global recommendations for immunization in inborn errors of immunity patients. We examined the mechanisms of action and types of vaccines, and we described...
In this manuscript, we carried out an exhaustive analysis of the global recommendations for immunization in inborn errors of immunity patients. We examined the mechanisms of action and types of vaccines, and we described the vaccines included in the Colombian immunization program together with the specific guidelines for immunization in patients with the most frequent inborn errors of immunity in Colombia. These recommendations were adjusted according to the severity and subclassifications of each immunodeficiency, considering variations in the immune response to offer evidencebased recommendations for vaccination in children with these conditions. We included the most common inborn errors of immunity worldwide and considered the vaccines included in the Colombian immunization program to avoid delays in vaccination schedules. This work was achieved through a narrative, non-systematic review of articles indexed in Spanish and English, using MeSH terms such as: “inborn errors of immunity”, “primary immunodeficiencies”, “vaccination in inborn errors of immunity, “types of vaccines”, “mechanism of action of vaccines”, and “live vaccines in inborn errors of immunity”. We used search engines such as: PubMed, Medline, ScienceDirect, and websites of recognized institutions such as the Centers for Disease Control and Prevention (CDC).
Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.
Fernandes-Pineda M, Zea-Vera AF
Biomedica · 2024 Dec · PMID 39836850 · Full text
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 phosphoinos...
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.
Standardization of the use of opsonized zymosan as stimulus in the 1,2,3-dihydrorhodamine technique for the assessment of neutrophil respiratory burst.
Pérez-Blanco U, Girón JY, Juárez-Vega G … +5 more , Jiménez M, Sánchez C, Rioja R, Espinosa-Padilla S, Blancas-Galicia L
Biomedica · 2024 Dec · PMID 39836849 · Full text
INTRODUCTION: Chronic granulomatous disease is a defect in phagocytosis due to deficiency of gp91phox, p22phox, p47phox, p40phox, and p67phox (classic form of the disease). Recently, EROS and p40phox deficiency were desc...
INTRODUCTION: Chronic granulomatous disease is a defect in phagocytosis due to deficiency of gp91phox, p22phox, p47phox, p40phox, and p67phox (classic form of the disease). Recently, EROS and p40phox deficiency were described as responsible for the non-classical form of the disease. The 1,2,3-dihydrorhodamine oxidation technique, with phorbol-12-myristate-13-acetate as a stimulus, is performed to diagnose the classic chronic granulomatous disease. However, oxidation mediated by EROS and p40phox requires stimuli such as zymosan, Escherichia coli, or Staphylococcus aureus. OBJECTIVE: To optimize the 1,2,3-dihydrorhodamine technique using zymosan to assess neutrophil respiratory burst and detect the non-classical chronic granulomatous disease. MATERIALS AND METHOD: Blood was obtained from five healthy subjects after the signature of the informed consent. The 1,2,3-dihydrorhodamine technique was performed with phorbol-12-myristate-13-acetate as control and different quantities of opsonized zymosan (150, 100, 50, 20, and 10 μg). We obtained through flow cytometry the mean fluorescence intensity of rhodamine 1,2,3 oxidated in the neutrophil population and calculated the oxidation index. The Kolmogorov-Smirnov test, ANOVA, and Tukey’s post-hoc analysis were used. We considered a p value ≤ 0.05 as statistically significant. RESULTS: The phorbol-12-myristate-13-acetate increased the rhodamine 1,2,3 mean fluorescence intensity in healthy subjects. Among the different zymosan conditions tested, we selected 50 μg as the optimal and reproducible amount in all controls according to the statistical analysis and cytometric findings. CONCLUSIONS: We present the optimization of the 1,2,3-dihydrorhodamine technique using zymosan. We propose its implementation in clinical diagnostic laboratories to expand the diagnosis of chronic granulomatous disease.
Infections, autoimmunity and immunodeficiencies are the leading etiologies of non-cystic fibrosis bronchiectasis in adults from the southwest of Colombia.
Zea-Vera AF, Rodríguez CA, Giraldo S … +9 more , Chacón MA, Guerrero LF, Mosquera R, Vallejo RA, Vargas FS, García MA, Rengifo MA, Bonelo A, Parra M
Biomedica · 2024 Dec · PMID 39836848 · Full text
INTRODUCTION: 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. As...
INTRODUCTION: 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. OBJECTIVE: To investigate non-cystic fibrosis bronchiectasis etiology and clinical characteristics in adults evaluated in the southwest of Colombia. MATERIALS AND METHODS: 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. RESULTS: 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. DISCUSSION: 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.
Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function.
Valerio-Gómez V, Pérez-Blanco U, Velázquez-Sámano G … +6 more , Velasco-Medina AA, Albarrán A, Sánchez IY, Berrón-Ruiz L, Espinosa-Padilla S, Blancas-Galicia L
Biomedica · 2024 Dec · PMID 39836847 · Full text
STAT1 is a cytoplasmic transcription factor associated with cell growth regulation, differentiation, proliferation, metabolism, and apoptosis. IFN-mediated JAK/STAT signaling pathway is involved in eliminating intracellu...
STAT1 is a cytoplasmic transcription factor associated with cell growth regulation, differentiation, proliferation, metabolism, and apoptosis. IFN-mediated JAK/STAT signaling pathway is involved in eliminating intracellular pathogens and viruses. However, pathogenic variants in STAT1 can result in impaired or increased function. Increased activity or function in STAT1 was described in 2011 and is characterized by excessive phosphorylation of the transcription factor. Carriers can develop autoimmune and inflammatory diseases and are susceptible to fungal, viral, and bacterial infections. The early and common manifestation is chronic mucocutaneous candidiasis. Here, we report a clinical case of a patient with increased STAT1 activity or gain of function, which started in the first year of his life. He is currently 27 years old and has presented bacillus Calmette-Guérin and Mycobacterium tuberculosis infection, chronic mucocutaneous candidiasis, tinea capitis, and facial and ocular rosacea. HIV infection was ruled out. Given the clinical manifestations, an inborn error of immunity was suspected, specifically STAT1 with gain of function. The diagnosis was corroborated by the sequencing of multiple genes associated with inborn errors of immunity. The pathogenic variant c.961A>G (p.Arg321Gly) in the STAT1 gene, previously reported as a gain of function mutation, was found in the patient. Finally, this case illustrates that mutations in immune-associated genes can contribute to producing severe and recurrent infections, even in adult patients. Chronic mucocutaneous candidiasis should raise suspicion of gain of function in STAT1.
First part. A 45-year-old man with severe pneumonia, disseminated cytomegalovirus infection, and agammaglobulinemia.
Fernandes Pineda M, Zea-Vera AF
Biomedica · 2024 Dec · PMID 39836846 · Full text
A 45-year-old male patient presented with a persistent cough lasting four months, accompanied by fever and significant weight loss. A chest computed tomography revealed cryptogenic pneumonia, and subsequent investigation...
A 45-year-old male patient presented with a persistent cough lasting four months, accompanied by fever and significant weight loss. A 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.
A hidden enemy: Understanding the hemophagocytic syndrome in children under five years of age in a high-complexity institution in southwestern Colombia.
Martínez S, Triviño J, Arias O … +7 more , Medina D, Franco A, Patiño J, Pérez P, Pachajoa H, Rodríguez P, Olaya-Hernández M
Biomedica · 2024 Dec · PMID 39836845 · Full text
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 persist...
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. Objective. To describe 12 clinical cases of children under five years of age with hemophagocytic syndrome in a high-complexity institution in southwestern Colombia. Materials 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. Results. 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 patients. 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. Conclusion. 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.
From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia.
Fernandes Pineda M, Zea-Vera AF
Biomedica · 2024 Dec · PMID 39836844 · Full text
INTRODUCTION: 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. OBJECTIVE: To conduct a comp...
INTRODUCTION: 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. OBJECTIVE: 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. MATERIALS AND METHODS: We conducted a retrospective study in which we sequentially evaluated all available institutional medical records with a diagnosis of inborn errors of immunity. RESULTS: 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. CONCLUSIONS: 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%).
Four-month-old infant with chronic granulomatous disease and invasive aspergillosis with bone involvement.
Gómez-Tello H, Mamani-Velásquez EG, Gómez-Gutiérrez AK … +4 more , Sánchez-Flores C, Lora-Téllez V, Espinosa-Padilla S, Blancas-Galicia L
Biomedica · 2024 Dec · PMID 39836843 · Full text
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 a...
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. The 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. Four 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. Aspergillus fumigatus was isolated from the abscess pus, leading to an invasive aspergillosis diagnosis. The patient was treated with voriconazole for 28 days, and then 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). At 12 months of age, the patient was readmitted for invasive aspergillosis, refractory to treatment, and died. This 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.
Non-cystic fibrosis bronchiectasis in pediatrics: A cohort profile of patients with inborn errors of immunity at a referral center in Cali, Colombia.
Murillo A, Marín D, Triviño J … +8 more , Arias O, Duarte D, Pérez P, Patiño J, Pachajoa H, Medina D, Franco A, Olaya-Hernández M
Biomedica · 2024 Dec · PMID 39836842 · Full text
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 air...
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. Objective. 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. Materials 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. Results. 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. Conclusion. The inborn errors of immunity most frequently associated with noncystic fibrosis bronchiectasis, were predominantly antibody deficiency and combined immunodeficiencies with syndromic features.
Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia.
Medina D, Castro JO, Castro DE … +4 more , Beltrán E, Manzi E, Franco AA, Olaya M
Biomedica · 2024 Dec · PMID 39836841 · Full text
INTRODUCTION: Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy. Hematopo...
INTRODUCTION: Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy. Hematopoietic stem cell transplantation offers a curative option for some inborn errors of immunity, with haploidentical donors providing a viable alternative when identical donors are unavailable. OBJECTIVE: To determine survival, usefulness of weekly chimerism monitoring, immune reconstitution, and complications in patients with inborn errors of immunity who underwent haploidentical hematopoietic stem cell transplantation at a reference center in Colombia. MATERIALS AND METHODS: We conducted a retrospective and observational study of a case series of pediatric patients who underwent haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and follow-up with weekly chimerism. Survival analysis was performed using the Kaplan-Meier method. RESULTS: Sixteen patients with haploidentical familial donor transplantation were included. The most frequent diagnosis was severe combined immunodeficiency (n=5). Eleven out of seventeen patients received a non-myeloablative conditioning regimen. Twelve out of sixteen patients developed acute graft-versus-host disease. Out of these, 3 corresponded to grades III-IV. Post-transplant infections affected 14 of the subjects, predominating bacterial agents. Median T-cell chimerism was greater than 80% during the follow-up. Reconstitution of B and T lymphocytes was achieved in more than 80%. Overall survival at five years was 81%. Survival at 100 days was 94%. CONCLUSION: Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide is a viable alternative for inborn errors of immunity when an identical donor is unavailable. Serial chimerism monitoring is useful for graft follow-up.
Red flags to suspect inborn errors of immunity in patients with autoimmune diseases.
Vélez N, De Ávila J, Cortés J … +4 more , Barrero N, Rojas L, Bello JM, Romero-Sánchez C
Biomedica · 2024 Dec · PMID 39836840 · Full text
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...
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.
Clinical and immunological features of specific antibody deficiency in a pediatric hospital in Colombia.
Castaño-Jaramillo LM, Munevar A, Marín AC … +3 more , Villamil M, Restrepo S, Vélez N
Biomedica · 2024 Dec · PMID 39836839 · Full text
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 vacc...
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. Objective. 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. Materials and methods. We reviewed the medical records of 16 patients with specific antibody deficiency. Results. 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. Conclusion. 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.
Allelic and haplotypic HLA analysis in patients with psoriatic arthritis: Low frequency of common alleles.
Calixto OJ, Meneses-Toro MA, Chacón PA … +7 more , Acevedo-Godoy M, Robayo LC, Bello-Gualtero JM, Bautista-Molano W, Noguera V, Cortés J, Romero-Sánchez C
Biomedica · 2024 Dec · PMID 39836838 · Full text
INTRODUCTION: 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. O...
INTRODUCTION: 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. OBJECTIVE: To describe the genotypic, allelic and haplotypic frequency of HLA alleles in psoriatic arthritis and associate them with clinical variables. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital.
Berriozábal-Villarruel X, Godínez-Zamora GF, Baeza-Capetillo P … +5 more , Pérez-Blanco U, Espinosa-Padilla SE, Aguirre-Hernández J, Blancas-Galicia L, Saucedo-Ramírez OJ
Biomedica · 2024 Dec · PMID 39836837 · Full text
INTRODUCTION: 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...
INTRODUCTION: 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. OBJECTIVE: To characterize clinically and genetically four patients with chronic granulomatous disease at the Hospital Infantil de México Federico Gómez. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: Chronic granulomatous disease, secondary to pathogenic variants in CYBB was the most common in these Mexican patients. The carrier mothers should be followed 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.
First pilot study for newborn screening of severe T and B lymphopenias in Colombia.
Gutiérrez-Hincapié S, Muskus-López C, Sánchez IP … +2 more , Franco-Restrepo JL, Trujillo-Vargas CM
Biomedica · 2024 Dec · PMID 39836836 · Full text
INTRODUCTION: Congenital lymphopenias cause increased susceptibility to infections in children apparently healthy at birth. Earlier detection of these conditions would facilitate prompt treatment, prevent potentially ser...
INTRODUCTION: 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. OBJECTIVE: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Autoimmunity against cytokines: Double strike in autoimmune disease, a historical perspective.
Insignares I, Rodríguez LE, Correa-Jiménez Ó … +4 more , Alfaro-Murillo A, Rincón-Arenas L, Sánchez A, Múnera M
Biomedica · 2024 Dec · PMID 39836835 · Full text
Autoimmune responses are characterized by the development of antibodies and the activation of T lymphocytes against self-antigens. This leads to an effector immune response against tissues expressing antigens, which are...
Autoimmune responses are characterized by the development of antibodies and the activation of T lymphocytes against self-antigens. This leads to an effector immune response against tissues expressing antigens, which are later recognized by the host immune system. Host antigens attacked by antibodies are called "autoantigens" and are of different kinds, including receptors, enzymes, and channel proteins. The autoimmune response is potentiated by cytokines that mediate the activation of Th1, Th2, or Th17 lymphocytes. The released cytokines can also be recognized as autoantigens, meaning they can be targets of the autoimmune response. The effects of autoimmunity on cytokines or their receptors are diverse, and the mechanisms of this type of autoimmune response are discussed in this review.
Understanding secondary hypogammaglobulinemia and its implications for cancer prognosis in children: A retrospective cohort study.
Guzmán AL, Villamil I, Martínez-Betancur S … +10 more , Arias-Valderrama O, Triviño-Arias J, Largo J, Lotero V, Franco A, Castro X, Rodríguez P, Urcuqui LA, Medina D, Olaya M
Biomedica · 2024 Dec · PMID 39836834 · Full text
INTRODUCTION: 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 facto...
INTRODUCTION: 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. OBJECTIVE: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Ten years of the immunogenetics laboratory performance assessment programme and its impact on the donor and transplant network.
Arias-Murillo YR, Salinas-Nova MA, Toloza-Pérez YG … +1 more , Castro-Jiménez MÁ
Biomedica · 2024 Dec · PMID 39836833 · Full text
Introduction. The use of immunological tests before solid organ transplantation is essential to reduce the risk of rejection and post-transplant complications. Therefore, quality control systems in laboratories performin...
Introduction. The use of immunological tests before solid organ transplantation is essential to reduce the risk of rejection and post-transplant complications. Therefore, quality control systems in laboratories performing them are necessary for clinical practice. The Colombian Instituto Nacional de Salud implemented the external evaluation program of transplant immunogenetics laboratory performance in 2014. Objective. To evaluate the performance of the laboratories that carried out five of the immunological tests for transplants in Colombia between 2014 and 2023, according to information from the external evaluation program of transplant immunogenetics laboratory performance. Materials and methods. We conducted a study of laboratory performance considering five immunological tests for transplantation: HLA, qualitative and quantitative PRA (Panel Reactive Antibodies), isolated antigen, and cross-matching tests. We collected data from reports of each laboratory. Based on the comparisons between laboratories, their performance was rated as “good”, “acceptable”, or “unacceptable” for each test. We calculated proportions and an analysis of predicted values with a 95% confidence interval. Results. The number of participating laboratories varied between 5 and 12, depending on the test. The proportion of laboratories with “good” performance was lower in the first year. The best performance was for qualitative PRA, rated as good in all the laboratories for eight years. In HLA (2014), qualitative PRA (2017 and 2019), crossmatch tests (2019), and single antigen (2017 and 2019) tests, the laboratories had a lower percentage of “good” performance than expected. Conclusion. “Good” performance was observed in all the laboratories in each test during the last three years, except for HLA and quantitative PRA.
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