Search

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent infections of the lung, skin, lymph nodes, and liver, as well as granulomatous inflammation affecting those organs and hollow [...]

De novo variants in QRICH1 (Glutamine‐rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n = 38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/ID (71%), nonspecific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%), autism spectrum disorder (29%), seizures (24%) and scoliosis (18%). Minor structural brain abnormalities were reported in 52% of the individuals with brain imaging. Truncating or splice variants were found in 28 individuals and 10 had missense variants. Four variants were inherited from mildly affected parents. This study confirms that heterozygous QRICH1 variants cause a neurodevelopmental disorder including short stature and expands the phenotypic spectrum to include poor weight gain, scoliosis, hypotonia, minor structural brain anomalies, and seizures. Inherited variants from mildly affected parents are reported for the first time, suggesting variable expressivity. [ABSTRACT FROM AUTHOR]

The article offers information on the EAACI/GA2LEN/EDF/WAO guideline update on urticaria which was published in the July 2018 issue of Allergy. Topics discussed include a strong recommendation to use provocation threshold measurements in management of patients with chronic inducible urticaria (CIU); mentions a number of therapeutic interventions for chronic urticaria, including doxepin; and also mentions the guideline states the use of omalizumab in pregnancy has been proven to be safe.

Objectives/Hypothesis: Aspirin-sensitivity, asthma, and nasal polyposis (NP) comprise the clinical entity of Samter's triad. The aim of this study is to report the sinonasal outcomes of endoscopic sinus surgery (ESS) in treating NP in asthmatic patients, comparing aspirin-induced asthmatic (AIA) patients with aspirin-tolerant asthmatics (ATA). Study Design: Retrospective chart review. Methods: The records of 66 patients with NP and asthma were retrospectively reviewed. Forty-one AIA patients were compared with 25 ATA patients. For each patient, a Lund-Mackay computed tomography (CT) score of the preoperative scans and the available postoperative CT scans in a period of 18 months were calculated and used as primary endpoint. Sinonasal improvement assessed by patients and reported with a symptoms scale was used as the secondary endpoint for the comparison immediately before surgery and 6 months and 12 months following ESS. Results: Preoperative CT scores in AIA patients compared with ATA patients were significantly higher 19 (standard deviation, 4.82) vs. 14 (standard deviation, 6.8), respectively ( P = .006). This difference was sustained for the available postoperative CT scans ( P < .0001). During the period of 18 months follow-up, 63.4% of AIA patients vs. 96% of ATA patients had CT improvement with a statistically significant difference between the two groups ( P = .003). At 6 months following ESS, 63.4% of AIA patients vs. 56% of ATA patients had symptomatic improvement. At 12 months, 68.3% of AIA patients vs. 60% of ATA patients had symptomatic improvement, with no significant difference between the two groups. Conclusion: AIA patients had more extensive sinonasal disease than ATA patients. Both groups showed statistically significant improvement in sinonasal outcomes after ESS. The difference between the two groups was statistically significant for patients' CT improvement with worse CT scores being seen in AIA patients. [ABSTRACT FROM AUTHOR]

Cutaneous reactions to foods represent one of the most common presentations of food allergy in children. IgE-mediated (urticaria, angioedema, flushing, pruritus), cell-mediated (contact dermatitis, dermatitis herpetiformis), mixed IgE- and cell-mediated (atopic dermatitis), and nonimmune-mediated (irritant contact dermatitis, Frey's syndrome) reactions to foods have all been reported. It is important for the pediatrician to recognize the variety of skin reactions potentially related to food allergy and to consider timely referral to an allergy specialist for further evaluation and definitive diagnosis. [ABSTRACT FROM AUTHOR]

Purpose of Review: This article reviews recent literature on the important relationship between the nose, paranasal sinuses and lungs. Recent advances in the understanding of the pathophysiological mechanisms underlying the association between upper and lower airways are discussed., Recent Findings: Epidemiological, clinical, and immunopathological data demonstrate an important link between upper and lower airways beyond the well recognized association of allergic rhinitis and asthma. Other upper airway diseases including occupational rhinitis, chronic rhinosinusitis, nasal polyposis with or without aspirin sensitivity, and obstructive sleep apnea have all been linked to asthma and/or asthma severity, as well as other lower airway diseases. Although the underlying mechanisms to explain these associations are unclear, recent work suggests the presence of systemic inflammation triggered by both the adaptive and innate immune system as a major driving force in combined airway diseases., Summary: Epidemiological data, clinical observations, and immunopathological studies demonstrate an important link between upper and lower airways. An understanding of how the upper airway impacts on lower airway disease has important diagnostic, therapeutic and prognostic implications.

Food allergy is an abnormal immunologic reaction to food proteins. In this article, we differentiate food allergy from food intolerance and other conditions that may mimic food allergy. We describe clinical presentations of food allergy, outline a practical approach for evaluating patients with suspected food allergy, and discuss recommendations for management.

Background: Certain diseases affect both upper and lower airways. Aspirin-induced asthma (AIA) is a clinical entity characterized by asthma, nasal polyposis, and aspirin intolerance. To understand the response of the lower airway to surgical treatment of the sinuses, we examined asthma outcomes in AIA compared with a second group of aspirin-tolerant asthmatic (ATA) patients to establish if there were any differences between the two groups after endoscopic sinus surgery (ESS)., Methods: A retrospective record review was performed of 91 asthmatic subjects with chronic rhinosinusitis. Forty-one subjects had AIA and 50 subjects had ATA. Subjective and objective asthma outcome parameters were used to compare between the two groups at three time points: immediately before ESS and 6 and 12 months after ESS., Results: Preoperatively, AIA patients had significantly higher asthma severity (p<0.0001) and lower forced expiratory volume in 1 second values (p=0.04). At 12 months after ESS, a statistically significant difference between the two groups with better results in AIA patients was seen in asthma severity improvement (p=0.010) and in the decrease of ICS doses (p<0.0001), without significant differences between the two groups in other asthma outcome parameters., Conclusion: AIA patients usually present with more severe asthma. The asthmatic complaints of AIA and ATA patients continue to improve significantly over 6 and 12 month after ESS. Although ESS helped both groups of patients, AIA had statistically significant better results compared with ATA patients in asthma severity scores and decreased need for ICS.

Platelet activation and aggregation play an important role in the pathogenesis of arterial thrombosis in coronary, cerebral and peripheral vascular beds. The antiplatelet agent clopidogrel has become a mainstay of treatment for patients with acute coronary syndromes and stroke, and to reduce ischemic complications after percutaneous coronary and peripheral interventions. There are, however, increasing numbers of reports of hypersensitivity reactions to clopidogrel. We present here a protocol for clopidogrel desensitization in isolated cutaneous reactions. Eight patients have completed the protocol successfully. Three subsequently underwent coronary intervention, and all are currently tolerating a daily clopidogrel dose a median of 7.5 months after desensitization. Desensitization may allow for the safe use of clopidogrel in patients with a history of prior cutaneous hypersensitivity reactions.