CVID patients with GD exhibit a particular biological phenotype. Treatment should be considered in any symptomatic patient or if there is evidence of organ dysfunction. Corticosteroids are the drug of choice in most instances but response to treatment is often unsatisfactory.

Hypomorphic CARD9 deficiency caused by p.Y91H results in adult-onset disease with variable penetrance and expressivity. Our findings establish the CARD9/RASGRF1/ERK/GM-CSF axis as critical to the pathophysiology of sCNSc.

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Background Acute airway angioedema commonly occurs through two distinct mechanisms: histamine- and bradykinin-dependent. Although they respond to distinct treatments, these two potentially life-threatening states present similarly. Poor recognition of the bradykinin-dependent pathway leads to treatment errors in the emergency department (ED), despite the availability of multiple pharmacologic options for hereditary angioedema (HAE) and other forms of bradykinin-induced angioedema. Here, we consider the pathophysiology and clinical features of bradykinin-induced angioedema, and we present a systematic literature review exploring the effectiveness of the available therapies for managing such cases. Methods PubMed searches using ‘emergency’, ‘bradykinin’ and various therapeutic product names identified studies reporting the efficacy of treatments for bradykinin-induced angioedema in the ED setting. In all, 22 studies met prespecified criteria and are analysed here. Findings Whereas histamine-induced angioedema has a faster onset and often presents with urticaria, bradykinin-induced angioedema is slower in onset, with greater incidence of abdominal symptoms. Acute airway angioedema in the ED should initially be treated with anaphylactic protocols, focusing on airway management and treatment with epinephrine, antihistamine and systemic steroids. Bradykinin-induced angioedema should be considered if this standard treatment is not effective, despite proper dosing and regard of beta-adrenergic blockade. Therapeutics currently approved for HAE appear as promising options for this and other forms of bradykinin-induced angioedema encountered in the ED. Conclusion Diagnostic algorithms of bradykinin-induced angioedema should be followed in the ED, with early use of approved therapies to improve patient outcomes.

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Background Despite available treatments for allergic rhinitis (AR), patients are often dissatisfied with their treatment and experience uncontrolled symptoms. Measurement-based care is the systematic use of standardized measurements used during office visits to inform treatment decisions. The Improving Symptom Control of Allergic Rhinitis (ICAR) study determined if the assessment and management of AR through measurement-based care could improve patient outcomes. Methods ICAR was a real-world, open-label, prospective, multicenter study conducted in Canada between September 2021 and December 2021. Enrolled adult patients (n=503) with AR were categorized as treatment-naïve, uncontrolled despite AR treatment, or requiring a treatment switch due to adverse effects. AR symptoms and symptom control were assessed by the patient using the Rhinitis Control Assessment Test (RCAT) and, by both the patient and the clinician, on a visual analog scale (VAS) at baseline and after 4 weeks of 10 mg daily oral rupatadine. Results The majority of patients were uncontrolled (36%) or partially controlled (51%) at baseline, while 20% were treatment-naïve, 32% were uncontrolled despite treatment, and 30% needed treatment switch.At baseline, 66% of patients were taking non-sedating antihistamines, and 78% indicated they were dissatisfied with their treatment. The overall RCAT score improved by 66%, from an average standard deviation (SD) of 16 (5.2) at baseline to 24 (3.8) at follow-up (P<0.0001). Scores for all individual RCAT items significantly improved (P<0.0001), with a 65% improvement in congestion frequency, a 61% improvement in sneezing frequency, and a 68% improvement in symptom control. Overall RCAT scores significantly improved from baseline by 67% in treatment-naïve patients; 64% in patients uncontrolled despite treatment; 51% in patients needing treatment switch; 55% in patients with asthma; 62% in patients with urticaria; 54% in patients with eczema/atopic dermatitis; 40% in patients with nasal polyps; and 52% in patients with no comorbidities (P<0.0001). The patient VAS score improved from a mean SD of 6.5 (2.4) units at baseline to 2.6 (2.2) at follow-up; the clinician VAS score improved from 6.6 (2.2) units to 2.0 (2.2). Conclusion The ICAR study demonstrated that rupatadine, an antihistamine that also has anti-platelet-activating factor effects, significantly improves AR symptom control when used daily and monitored objectively by measurement-based care.