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Successful treatment of eosinophilic cellulitis with a short course of Dupilumab.
An Bras Dermatol
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Santa Casa de Porto Alegre, Porto Alegre, RS, Brazil.
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
J Exp Med
February 2025
Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Imagine Institute, University Paris Cité, Paris, France.
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.
View Article and Find Full Text PDFWells Syndrome: A Rare Skin Manifestation of Non-Hodgkin's Lymphoma.
Cureus
October 2024
Pathology, Lakeshore Hospital and Research Centre, Ernakulam, IND.
Eosinophilic cellulitis, also known as Wells syndrome, presents a wide range of morphological spectrum, from pruritic erythematous papules, nodules, and pustules to urticarial and bullous lesions. This is a rare dermatological condition and is known to develop after treatment of hematological malignancy. Here, we report a case of Wells syndrome that was the initial presentation of lymphoma, preceding all other symptoms by six months.
View Article and Find Full Text PDFMepolizumab-responsive recurrent eosinophilic eruption without peripheral eosinophilia.
JAAD Case Rep
November 2024
Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
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