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BackgroundX-linked hyper-IgM syndrome (XHIM) due to CD40L deficiency typically presents in early childhood with recurrent sinopulmonary or opportunistic infections, and its initial manifestations can be misleading. We re...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Highly pathogenic avian influenza A (H5N1) remains a major zoonotic threat, yet human infections continue to display striking heterogeneity in clinical severity. We report a fatal case of H5N1 pneumonia in an adult patie...

IntroductionHyperinflammatory and hemophagocytic lymphohistiocytosis (HLH)-like presentations are increasingly recognized as clinical “red flags” for inborn errors of immunity (IEI), including severe combined immunod...

Abstract Background Treating severe forms of the acute respiratory distress syndrome and cardiac failure, extracorporeal membrane oxygenation (ECMO) has become an established therapeutic option. Neonatal or pediatric pat...

Clarithromycin is an antibiotic that is usually used to treat upper and lower respiratory tract infections. Common side effects are diarrhea, nausea, vomiting, dyspepsia and change of taste in the mouth. Other rare side ...

South American Camelids have an increasing relevance in local economies, worldwide. These animals are bred for their meat, fur and as companion and therapy animals. Thus, their sanitary status should be well-established....

IntroductionSporotrichosis is an uncommon but emerging opportunistic infection in immunocompromised patients. Primary pulmonary sporotrichosis can disseminate and result in significant morbidity and mortality, despite tr...

IntroductionDown syndrome (DS) is associated with increased infections and immune dysregulation, yet contemporary large-scale United States (U.S.) data quantifying immune diagnoses, infection burden, and immunoglobulin (...

ABSTRACT A 20‐day‐old, 0.26 kg intact female domestic shorthair kitten was presented for evaluation of labored breathing and decreased appetite. Physical examination and thoracic radiographs were consistent with br...

ObjectivePatients seen for uncontrolled seizures in a Pediatric Emergency Department (ED) often undergo tracheal intubation (TI). We looked at factors associated with TI in children in a safety net hospital.MethodsThis w...

IntroductionThe ERCC2 gene, located on chromosome 19, is essential for transcription and DNA repair via its protein product, XPD. Mutations in ERCC2 cause disorders such as trichothiodystrophy-1, xeroderma pigmentosum, C...

ABSTRACT Background Multiple sclerosis (MS) is the most prevalent immune‐mediated neurodegenerative disease affecting the central nervous system. Ocrelizumab, a humanized anti‐CD20 monoclonal antibody, has demonstrat...

Opioid-free Anaesthesia (OFA) for craniotomy is a method employed increasingly for intraoperative and postoperative pain management with reduced opioid side-effects. Standard opioid regimens, although best for analgesia,...

Pneumocystis carinii pneumonia (PCP) is an opportunistic infection, which results in increased morbidity and mortality during the posttransplant period. In our study we retrospectively analyzed 713 patients, who were fol...

ABSTRACT Background and Aims Extracorporeal life support (ECLS) is a critical intervention in the management of severe cardiac and respiratory failure. Among the commonly used cannulation techniques, percutaneous cannula...

Influenza A, an acute or subacute respiratory infectious disease caused by the influenza A virus (IAV), affects humans and animals, and poses a serious threat to public health. Currently, IAV prevention and treatment rel...

Abstract Intubation-related pneumonia negatively affects patient outcomes. Aspiration pneumonia occurring after extubation due to swallowing dysfunction, conceptualized as postextubation pneumonia (PEP), remains underrec...

Abstract Background Infections caused by members of the Mycobacterium fortuitum complex are generally mild and confined to skin and soft tissues, while severe disease in immunocompetent individuals is uncommon. Within th...

Introduction. The 2025 FDA approval of suzetrigine (Journavx) ended a 25-year stagnation in analgesic development. This introduced a paradigm shift in pain management. As a first-in-class, highly selective NaV1.8 sodium...

IntroductionToll-like receptor 8 gain-of-function (TLR8 GOF) is a recently described inborn error of immunity caused by activating mutations in Tlr8. Pathogenic variants lead to constitutive signaling in myeloid cells an...

IntroductionHyper-IgM syndrome (HIGM) is a rare primary immunodeficiency characterized by impaired immunoglobulin class-switch recombination, most commonly due to mutations in the CD40 ligand (CD40L) gene. Affected patie...

Abstract Introduction Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remains a global public health concern. Anti-nucleocapsid (anti-N) serology is a key tool for identifying prior infection and supporting ...

Abstract Introduction The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic significantly changed the development and use of infectious disease diagnostics, emphasizing the need for rapid implementat...