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Abstract Background Pediatric connective tissue disease-associated interstitial lung disease (CTD-ILD) is a rare but serious condition with limited clinical data; this study aimed to evaluate its clinical features, treat...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a noninfectious interstitial lung disorder characterized by granulomatous inflammation and lymphoid proliferation. It is most frequently identified...

BackgroundN-acetylcysteine (NAC) is a key precursor of glutathione (GSH), the lung’s principal antioxidant. First developed as a mucolytic, NAC is now recognized for broader antioxidant, anti-inflammatory, immunomodula...

Dermatomyositis is an autoimmune disease characterized by skin lesions and/or symptoms of myositis. In addition to the so-called classic dermatomyositis the following forms of dermatomyositis are distinguished based on t...

Objectives To explore the lived experiences of anxiety related to breathlessness in patients who are receiving specialist palliative care for advanced chronic respiratory disease (CRD), such as chronic obstructive pulmon...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a major cause of morbidity and mortality in common variable immunodeficiency (CVID), yet its pathophysiology remains incompletely understood, and n...

BackgroundCOPA syndrome is a rare autosomal-dominant immune dysregulation disorder caused by pathogenic variants in the COPA gene, typically presenting with autoimmunity, arthritis, and interstitial lung disease. However...

IntroductionSTING-associated vasculopathy with onset in infancy (SAVI) is a rare, severe type I interferonopathy caused by gain-of-function mutations in STING1, leading to early-onset systemic inflammation, cutaneous vas...

IntroductionPathogenic variants in the COPA gene are associated with autosomal-dominant autoimmune interstitial lung, joint, and kidney disease, a condition known as COPA syndrome. It is associated with a type I interfer...

Abstract Background The newly discovered Treg subset (CLA+ Tregs) expressing cutaneous lymphocyte-associated antigen is associated with inflammatory conditions. This study elucidated the role of CLA+ Tregs in rheumatoid ...

RationaleGenetic testing can reveal a molecular diagnosis in 20–40% of patients with inborn errors of immunity (IEI) such as predominantly antibody deficiencies (PAD), though this varies by IEI type and other factors. ...

BackgroundCommon variable immunodeficiency (CVID) is the most prevalent inborn error of immunity. Although CVID is most commonly diagnosed in adulthood, a subset of patients is diagnosed in childhood. Autoimmune and end-...

RationaleInborn errors of immunity (IEIs) predispose individuals to recurrent respiratory infections and immune dysregulation, which together can drive inflammatory lung complications, including interstitial lung disease...

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

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...

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...

We are reporting a 14-year-old male who presented at 12 years of age with recurrent episodes of hypothermia and bradycardia (30s) secondary to culture-negative septic shock from presumed viral respiratory illnesses. His ...

Targeted B-cell depletion via the anti-CD20 monoclonal antibody rituximab fundamentally altered the therapeutic algorithm for rheumatoid arthritis (RA). Despite its clinical entrenchment, approximately 40% of patients ex...

BackgroundNFKB1 encodes the p105/p50 nuclear factor-kappa-B (NF-κB1) transcription factor. Heterozygous mutations in NFKB1 are associated with NFKB1-related disease, including granulomatous-lymphocytic interstitial lung...

IntroductionBACH2-related immunodeficiency and autoimmunity (BRIDA) increases the risk of developing B cell lymphoma. We present a case of a patient with a known history of common variable immunodeficiency (CVID) and BAC...