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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.

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.

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%).

Competing Interests: Conflicts of interest None.

Background: Carbapenemase-producing Enterobacterales (CPE) represents a significant threat to global health. This study aimed to characterize clinically and molecularly the CPE isolated from rectal swabs of patients in the intensive care units (ICUs) of a tertiary hospital in Cali, Colombia., Methods: This was a cross-sectional observational study. Rectal swabs from patients admitted to the ICUs were collected. Bacterial identification and carbapenemase production were determined using phenotypic and molecular methods. Demographic and clinical data were extracted from electronic medical records., Results: The study included 223 patients. Thirty-six patients (36/223, 16.14 %) were found to be colonized or infected by CPE. Factors such as prolonged stay in the ICU, previous exposure to carbapenem antibiotics, use of invasive procedures, and admission due to trauma were associated with CPE. Klebsiella pneumoniae (52.5 %) was the most prevalent microorganism, and the dominant carbapenemases identified were KPC (57.8 %) and NDM (37.8 %)., Conclusion: Distinguishing carbapenemase subtypes can provide crucial insights for controlling dissemination in ICUs in Cali, Colombia., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 The Authors.)