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Abstract Background As cases of neurosyphilis are rising worldwide – especially in people living with HIV (PLWH) – current data on clinical presentation, diagnostics and management of neurosyphilis in Europe are of h...

ObjectiveApproximately half of common variable immunodeficiency (CVID) patients develop debilitating and life-threatening clinical manifestations of immune dysregulation, including lymphoproliferation, cytopenias, inters...

Dosing immunoglobulin G (IgG) replacement therapy in primary immunodeficiency disease (PIDD) depends on IgG pharmacokinetics (PK) and patients’ clinical status. Conventionally, PK data used to determine dosing were bas...

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia an...

BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...

The recognition of disorders of immune dysregulation, particularly those presenting with lymphoproliferation and systemic autoimmunity (International Union of Immunological Societies [IUIS] Group 4.6), has markedly incre...

Although Brazil has experienced substantial immigration from the Middle East and Italy, regions with a higher prevalence of pyrin-associated autoinflammatory diseases, pyrinopathies, remain under-investigated in the coun...

BackgroundKabuki syndrome (KS) is a multisystem genetic disorder caused predominantly by pathogenic variants in KMT2D or KDM6A, characterized by developmental delay, congenital anomalies, and immune dysregulation. Autoim...

BackgroundInfantile epileptic spasms syndrome (IESS) is a severe age-specific epileptic encephalopathy with unclear pathogenesis, and neuroinflammation is involved in its progression. The HMGB1-TLR4 signaling pathway, a ...

Natural rubber latex is found in numerous medical and dental products. Adverse latex reactions in dental patients and practitioners have significantly increased since the introduction of universal precautions for infecti...

Introduction and ObjectivesAccurate diagnosis of IgE-mediated diseases requires identifying relevant allergens to guide appropriate clinical management and reduce healthcare costs (1). The ImmunoCAP Phadiatop (Thermo Fis...

BackgroundThe toxicities associated with immune checkpoint inhibitors (ICIs) can affect nearly all organ systems. Although previous studies have examined specific types of immune-related adverse events (irAEs) associated...

BackgroundRecessive dystrophic epidermolysis bullosa (RDEB) is a devastating genodermatosis caused by biallelic COL7A1 mutations, where chronic inflammation drives disabling complications affecting quality of life and su...

Malignant lung tumors are the leading cause of cancer-related mortality worldwide, and therefore remodeling of the tumor microenvironment (TME) has become an important strategy to overcome anti-tumor therapy resistance i...

Sepsis remains a major challenge in critical care medicine worldwide, characterized by a dynamic imbalance of the immune system between two extremes: “immunoparalysis” and “hyperactivation.” This dysregulation se...

IntroductionIndividuals with inborn errors of immunity (IEI) are increasingly reaching reproductive age, yet guidance on fertility preservation, genetic counseling, medication adjustments in pregnancy and breastfeeding, ...

ObjectiveThis review summarizes the current evidence on the impact of isolated antiphospholipid antibody positivity (IAAP) on pregnancy outcomes. It analyzes risk differentials across antibody subtypes, synthesizes the u...

IntroductionPediatric-onset multiple sclerosis (POMS) poses unique therapeutic challenges due to high inflammatory activity, early cognitive and psychosocial impact, and difficulties with long-term treatment adherence. T...

BackgroundTranscription factor forkhead box protein N1 (FOXN1) is the master transcription factor required for differentiation and maintenance of thymic epithelial cells (TECs) and is not only required for embryonic thym...

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

Diagnosis of specific antibody deficiency (SAD) relies on serotype-specific IgG responses to PPSV23; however, IgG titers do not measure opsonophagocytic function and may misclassify patients due to pre-vaccine titers, va...

IntroductionSjögren’s disease (SjD) is a chronic autoimmune disorder characterized by dry mouth (xerostomia) and dry eyes (xerophthalmia) due to inflammation in exocrine glands, particularly the salivary and lacrimal ...

Inborn errors of immunity (IEI) are increasing in number, and prompt recognition and diagnosis remain a challenge for clinicians. Use of machine learning (ML) for clinical pattern recognition is promising but has been li...

IntroductionInborn errors of interferon response factors (IRFs) are a subset of monogenic inborn errors of immunity, occurring as a result of damaging variants in the IRF genes. Of these diseases, IRF4 deficiencies are a...