X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by mutations in the nuclear factor-kappa B essential modulator (NEMO) gene. Here, we report the clinical and genetic features of a XL-EDA-ID patient who developed bacillus Calmette-Guérin infection. Patient lymphocytes failed to degrade IκB-α, and sequencing of NEMO identified the novel mutation c.1238A>C/p.H413P. Furthermore, patient monocyte-derived macrophages ingested Mycobacterium tuberculosis normally, but failed to control the intracellular proliferation of bacilli, a defect which was improved in the presence of interferon-gamma (IFN-γ). This work expands the genetic spectrum of XL-EDA-ID and demonstrates improvement in macrophage function in a NEMO-deficient patient by IFN-γ.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pbc.26098 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Value of ultrasound-assessed dactylitis in the early diagnosis of psoriatic arthritis.
Semin Arthritis Rheum
December 2024
Department of Rheumatology and Joint and Bone Research Unit. Fundación Jiménez Díaz University Hospital and Health Research Institute Fundación Jiménez Díaz (IIS-FJD, UAM), Autonomous University of Madrid, Madrid, Spain. Electronic address:
Purpose: The primary objective of this prospective, longitudinal, observational, single-centre study was to evaluate the association between ultrasound-assessed lesions of dactylitis and the diagnosis of psoriatic arthritis (PsA) in patients with psoriasis (PsO) and hand arthralgia.
Methods: We included adult patients diagnosed with PsO with hand arthralgia, with or without other musculoskeletal complaints. They were clinically assessed at baseline, 6 and 12 months by a rheumatologist blinded to the ultrasound findings.
Broadening the conceptualization of panic disorder to include the fear presentation of avoidant/restrictive food intake disorder: The legacy of panic control therapy.
Behav Res Ther
December 2024
Rogers Behavioral Health, Research Center, Oconomowoc WI & Philadelphia PA, 34700 Valley Rd, Oconomowoc, WI, 53066, USA. Electronic address:
The presentation of avoidant/restrictive food intake disorder (ARFID) characterized by fear of aversive consequences of eating (fear-ARFID) has both phenomenological and mechanistic similarities to panic disorder. In this narrative review, we propose a shared model of the pathogenesis of the two disorders, centered on interoceptive sensitivity as the key maintenance mechanism. We review the evidence that fear-ARFID, which involves restrictive eating motivated by a desire to avoid aversive events (e.
View Article and Find Full Text PDFAssessment of Emphysema on X-ray Equivalent Dose Photon-Counting Detector CT: Evaluation of Visual Scoring and Automated Quantification Algorithms.
Invest Radiol
October 2024
From the Institute for Diagnostic and Interventional Radiology, University Hospital Zurich, University Zurich, Zurich, Switzerland (B.K., F.E., J.K., T.F., L.J.); Advanced Radiology Center, Department of Diagnostic Imaging and Oncological Radiotherapy, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy (C.S., A.R.L.); and Section of Radiology, Department of Radiological and Hematological Sciences, Università Cattolica del Sacro Cuore, Rome, Italy (A.R.L.).
Objectives: The aim of this study was to evaluate the feasibility and efficacy of visual scoring, low-attenuation volume (LAV), and deep learning methods for estimating emphysema extent in x-ray dose photon-counting detector computed tomography (PCD-CT), aiming to explore future dose reduction potentials.
Methods: One hundred one prospectively enrolled patients underwent noncontrast low- and chest x-ray dose CT scans in the same study using PCD-CT. Overall image quality, sharpness, and noise, as well as visual emphysema pattern (no, trace, mild, moderate, confluent, and advanced destructive emphysema; as defined by the Fleischner Society), were independently assessed by 2 experienced radiologists for low- and x-ray dose images, followed by an expert consensus read.
Letter Regarding: Validation of the C-DU(KE) Calculator as a Predictor of Outcomes in Patients Enrolled in Steroids for Corneal Ulcer and Mycotic Ulcer Treatment Trials.
Cornea
October 2024
Department of Ophthalmology, South Metropolitan Health Service, Perth, WA, Australia.
Accelerated Takedown of Melolabial Interpolation Flaps at 1 to 2 weeks, Indications and Safety for Improved Patient Experience.
Dermatol Surg
October 2024
All authors are affiliated with the Department of Dermatology, Oregon Health and Science University, Portland, Oregon.
Background: The melolabial interpolation flap is an effective surgical technique for reconstructing defects in the nasal ala and tip regions. Traditionally, this technique involves waiting for the standard 3-week period before pedicle division.
Objective: To evaluate whether accelerated takedown at 1- or 2-week postflap creation is possible while maintaining the flap's viability and functionality.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!