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G6PC3 deficiency is a monogenic immunometabolic disorder that causes syndromic congenital neutropenia. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the G6PC3 c.210delC variant found in patients of Mexican origin. Based on the shared haplotypes amongst carriers of the c.210delC mutation, we estimated that this variant originated from a founder effect in a common ancestor. Furthermore, by ancestry analysis, we concluded that it originated in the indigenous Mexican population. At the protein level, we showed that this frameshift mutation leads to an aberrant protein expression in overexpression and patient-derived cells. G6PC3 pathology is driven by the intracellular accumulation of the metabolite 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) that inhibits glycolysis. We characterized how the variant c.210delC impacts glycolysis by performing extracellular flux assays on patient-derived cells. When treated with 1,5-anhydroglucitol (1,5-AG), the precursor to 1,5-AG6P, patient-derived cells exhibited markedly reduced engagement of glycolysis. Finally, we compared the clinical presentation of patients with the mutation c.210delC and all other G6PC3 deficient patients reported in the literature to date, and we found that c.210delC carriers display all prominent clinical features observed in prior G6PC3 deficient patients. In conclusion, G6PC3 c.210delC is a loss-of-function mutation that arose from a founder effect in the indigenous Mexican population. These findings may facilitate the diagnosis of additional patients in this geographical area. Moreover, the in vitro 1,5-AG-dependent functional assay used in our study could be employed to assess the pathogenicity of additional G6PC3 variants., Competing Interests: Competing Interests The authors declare that they have no relevant conflicts of interest. Additional Declarations: No competing interests reported.

Background: SARS-CoV-2 infection associated with the presence of comorbidities increased the risk of mortality. However, the role of asthma as a predictor of mortality and severity has not been defined., Aim: To assess the impact of asthma as a factor associated with the decrease in mortality in the Mexican population with COVID-19., Methodology: We performed a cross-sectional and secondary analysis of the database of the General Directorate of Epidemiology of the Mexican Government, updated to May 2023. The analysis included the Mexican population with a confirmed diagnosis of SARS-CoV-2 by RT-PCR., Results: A total of 617,367 participants were included, with a mean age of 36. Mortality was 0.9%, 0.2% required admission to the intensive care unit (ICU). The prevalence of asthma in this population was 1.9%. When performing the multivariate logistic regression analysis, we found that the presence of asthma decreased the risk of mortality, with an OR of 0.57 (95% CI 0.45, 0.72; p = < 0.001). The variables of age > 60 years, smoking, arterial hypertension, Diabetes, Chronic Obstructive Pulmonary Disease (COPD), cardiovascular disease, and chronic kidney disease (CKD) were factors associated with an increase in mortality. The diagnosis of asthma was not associated with mechanical ventilation or ICU admission., Conclusion: The presence of asthma in patients with COVID-19 decreased the risk of mortality by 43%. The immunological context could explain the decreased risk of mortality in asthmatic patients infected with SARS-CoV-2.

Introduction: Up to 25% of patients with common variable immunodeficiency (CVID) debut with autoimmunity, which is related to the Freiburg classification, which is based on flow cytometry., Objective: to determine the frequency and type of autoimmune diseases and their association with the Freiburg classification in adults with CVID., Methods: A cross-sectional, analytical and observational study was carried out with 33 patients belonging to the Primary Immunodeficiency Clinic of a third level hospital, with a diagnosis of CVID. They were divided into 3 phenotypes according to the Freiburg classification., Results: Of the 33 patients studied, 66.6% presented autoimmune diseases, 19 of them (86.3%) had cytopenia; 42.1% belonged to Freiburg group Ia, 36.8% to Ib and 21% to phenotype II. In 36.6% of the patients, autoimmune cytopenia were the first manifestation of CVID; and up to 70% of them belong to the Freiburg phenotype Ia (p = 0.086). Patients with autoimmune cytopenia had a lower percentage of isotype-switched memory B cells (p = 0.018), no higher percentage of CD21low B cells (p = 0.226)., Conclusions: Classification by CVID phenotypes allows the identification of the patient's profile according to the percentage of memory B cells with isotype change, which is useful to intentionally search for non-infectious complications of the disease., (Licencia CC 4.0 (BY-NC-ND) © 2023 Revista Médica del Instituto Mexicano del Seguro Social.)

Pollen-food syndrome (PFS) is characterized by allergic sensitization to proteins of pollens of grasses, weeds, and trees, which produce a type I hypersensitivity reaction that is associated with the intake of plant-derived foods that are usually in raw form. The most frequently-associated protein families are: profilins, PR-10, and ns LTP; however, others such as thaumatins, isoflavones, reductases, and B1,2 glucanases have been documented. The prototype syndrome is birch-fruit-vegetables, and of these, the most common is birch-apple due to the fact that more than 70 % of patients who are sensitized to birch present symptoms associated with the intake of plant-derived foods. The symptoms are restricted to the oral cavity; however, some patients may present systemic symptoms, including anaphylaxis, so it is important to identify the type of protein that is involved since the type of reaction that the patient may present depends on that. In spite of everything, it is considered an entity that may be under diagnosed due to its complex diagnosis and treatment, since the procedure, in most cases, is an elimination diet, because treatment with immunotherapy is not yet available. The purpose of this review is to describe the pathophysiology, as well as the most common pollen-food syndromes.

Background: The SARS-CoV-2 disease, called COVID-19, emerged in China has acquired pandemic dimensions. According to the WHO situational report of March 15, 2021, the global fatality rate is 2.2%; in Mexico, around 194 944 deaths have been confirmed by COVID-19. Studies in China identified that patients with severe COVID-19, when compared with those who had non-severe COVID-19, presented more severe neurological manifestations., Objective: To determine the frequency of neurological symptoms and manifestations in patients with severe COVID-19 in a tertiary care center., Material and Methods: A cross-sectional, observational and analytical study was carried out at the Hospital de Especialidades del Centro Médico Nacional Siglo XXI, in patients hospitalized with severe COVID-19., Results: 183 cases were analyzed, of which 130 were men (71%). The median age was 55 years (IQR: 44-65). The neurological symptoms were: headache, anosmia and dysgeusia. Neurological manifestations occurred in 27 patients (16%), the most frequent was ischemic-type cerebrovascular disease (CVD) in 12 (44%), in patients older than 76.5 years vs. 54 years (p = 0.000), with history of cardiovascular disease., Conclusions: The most frequent neurological symptoms were headache, anosmia and dysgeusia. The most frequent neurological manifestation was ischemic CVD that appeared in older patients with severe COVID-19 with a history of cardiovascular disease., (© 2021 Instituto Mexicano del Seguro Social.)