Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency.

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.

Recommendations on vaccination in children and adolescents with inborn errors of immunity according to the expanded Colombian immunization program.

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.

Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.

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.

Infections, autoimmunity and immunodeficiencies are the leading etiologies of non-cystic fibrosis bronchiectasis in adults from the southwest of Colombia.

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.

First part. A 45-year-old man with severe pneumonia, disseminated cytomegalovirus infection, and agammaglobulinemia.

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.

A hidden enemy: Understanding the hemophagocytic syndrome in children under five years of age in a high-complexity institution in southwestern Colombia.

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.

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia.

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.

Non-cystic fibrosis bronchiectasis in pediatrics: A cohort profile of patients with inborn errors of immunity at a referral center in Cali, Colombia.

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.

Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia.

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.

Red flags to suspect inborn errors of immunity in patients with autoimmune diseases.

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.

Clinical and immunological features of specific antibody deficiency in a pediatric hospital in Colombia.

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.

Allelic and haplotypic HLA analysis in patients with psoriatic arthritis: Low frequency of common alleles.

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.

First pilot study for newborn screening of severe T and B lymphopenias in Colombia.

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.

Autoimmunity against cytokines: Double strike in autoimmune disease, a historical perspective.

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.

Understanding secondary hypogammaglobulinemia and its implications for cancer prognosis in children: A retrospective cohort study.

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.

Ten years of the immunogenetics laboratory performance assessment programme and its impact on the donor and transplant network.

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.

Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency.

Introduction: Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections, hypogammaglobulinemia, deficient response to vaccination, or low percentages of switched memory B cells. In low- and middle-income countries, the elucidation and study of molecular defects in these patients may take decades.

Objective: To elucidate the genetic defect conferring impaired immunity in a patient diagnosed with common variable immunodeficiency.

XopAE Effector from pv. Targets HSP20-Like p23 Cochaperone to Suppress Plant Basal Immunity.

Pathogenic bacteria use Type 3 effector proteins to manipulate host defenses and alter metabolism to favor their survival and spread. The non-model bacterial pathogen pv. () causes devastating disease in cassava.

Graphical Model Selection to Infer the Partial Correlation Network of Allelic Effects in Genomic Prediction With an Application in Dairy Cattle.

We addressed genomic prediction accounting for partial correlation of marker effects, which entails the estimation of the partial correlation network/graph (PCN) and the precision matrix of an unobservable m-dimensional random variable. To this end, we developed a set of statistical models and methods by extending the canonical model selection problem in Gaussian concentration, and directed acyclic graph models. Our frequentist formulations combined existing methods with the EM algorithm and were termed Glasso-EM, Concord-EM and CSCS-EM, whereas our Bayesian formulations corresponded to hierarchical models termed Bayes G-Sel and Bayes DAG-Sel.

Analysis of the economically justifiable price of mepolizumab in adults with asthma in Colombia.

Introduction: Asthma imposes a critical economic burden on health systems, especially with the incorporation of new drugs. Recently, mepolizumab has been approved to prevent exacerbations in patients with eosinophilic asthma, however their high cost constitutes a barrier for their use, especially in middle- and low-income countries. This study aimed to estimate the economically justifiable price of mepolizumab for preventing exacerbations in patients with severe asthma in Colombia.

Goniotomy for Childhood Glaucoma Secondary to Uveitis: Long-term Outcomes.

Precis: Goniotomy is effective in managing intraocular pressure in childhood glaucoma secondary to uveitis with cumulative probability of success 0.94 after 1 year and 0.77 after 5 years.

Evidence-Based Umbrella Review of Non-Invasive Neuromodulation in Chronic Neuropathic Pain.

Background And Objective: Non-invasive neuromodulation techniques (NIN), such as transcranial Direct Current Stimulation (tDCS) and repetitive Transcranial Magnetic Stimulation (rTMS), have been extensively researched for their potential to alleviate pain by reversing neuroplastic changes associated with neuropathic pain (NP), a prevalent and complex condition. However, treating NP remains challenging due to the numerous variables involved, such as different techniques, dosages and aetiologies. It is necessary to provide insights for clinicians and public healthcare managers to support clinical decision-making.

Extracellular vesicles in ZIKV infection: Carriers and facilitators of viral pathogenesis?

Zika virus (ZIKV) is a flavivirus of significant epidemiological importance, utilizing various transmission strategies and infecting "immune privileged tissues" during both the pre- and postnatal periods. One such transmission method may involve extracellular vesicles (EVs). EVs can travel long distances without degrading, carrying complex messages that trigger different responses in recipient cells.