Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8919685 | PMC |
| http://dx.doi.org/10.1007/s10875-022-01240-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India.
Immunol Res
December 2024
Paediatric Immunology and Rheumatology Unit, Aster CMI Hospital, Bengaluru, India.
DOCK8 deficiency is the most common cause of autosomal recessive hyper-IgE syndrome (AR-HIES). The clinical spectrum is wide resulting in combined immunodeficiency, atopy, autoimmunity, and malignancies. To study the clinical and molecular profile of 20 patients with DOCK8 deficiency.
View Article and Find Full Text PDFImproving Diversity in a Novel Psoriasis Study: VISIBLE as a Framework for Clinical Trial Quality Improvement.
JAMA Dermatol
December 2024
Innovative Dermatology, Plano, Texas.
Importance: Diverse racial and ethnic representation in clinical trials has been limited, not representative of the US population, and the subject of pending US Food and Drug Administration guidance. Psoriasis presentation and disease burden can vary by skin pigmentation, race and ethnicity, and socioeconomic differences. Overall, there are limited primary data on clinical response, genetics, and quality of life in populations with psoriasis and skin of color (SoC).
View Article and Find Full Text PDFA Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the Literature.
J Clin Neuromuscul Dis
December 2024
Department of Neurology, Martin Luther University Halle-Wittenberg and University Hospital Halle, Halle (Saale), Germany.
Background: Pathogenic variants in the nonmuscle myosin, MYH14, have been associated with several pathologic conditions including a complex phenotype with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Since its first description in a large Korean kindred, this rare neuromuscular disorder has further been characterized in 1 American and 1 Canadian pedigree.
Case Presentation: Here, we describe a German patient with atypical MYH14-related neuromuscular disorder.
A novel lynch syndrome kindred with hereditary adrenal cortical carcinoma.
Cancer Genet
November 2024
Eastern Virginia Medical School, Norfolk, VA, USA; Virginia Oncology Associates, Norfolk, VA, USA.
Article Synopsis
- Adrenal cortical carcinoma (ACC) is a rare and aggressive cancer, often with a poor prognosis, underscoring the necessity for early detection and treatment through surgical resection.
- This case study features a 59-year-old man with a hereditary form of ACC linked to Muir-Torre syndrome, indicating a connection between Lynch syndrome and increased risk of this malignancy, particularly in families with a history of ACC.
- The findings stress the importance of targeted cancer screening for individuals with Lynch syndrome and the critical need for distinct germline and somatic genetic testing in cancer cases to better inform treatment options.
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and Autoimmunity.
Clin Exp Immunol
October 2024
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Article Synopsis
- Inborn errors of immunity (IEI) are diseases that affect how the immune system works, causing problems like getting sick easily or having allergies.
- A 19-year-old girl with severe combined immunodeficiency (SCID) and a family history of similar issues had two genetic mutations that made her immune system not work right.
- After getting a special treatment called HSCT, she developed serious autoimmune problems like lupus, and tests showed complicated genetic issues can exist in people from close families.
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!