Underlying congenital genito-urinary tract anomalies are the most common cause of recurrent epididymo-orchitis in prepubertal boys. An 8-year-old boy was admitted with recurrent pulmonary and skin infections, was diagnosed as Kostmann syndrome and developed epididymo-orchitis. This appears to be the first case of Kostmann syndrome associated with epididymo-orchitis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1179/146532806X107520 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
J Clin Immunol
December 2024
Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
G6PC3 deficiency is a monogenic immunometabolic disorder that causes severe congenital neutropenia type 4. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the G6PC3 c.
View Article and Find Full Text PDFComparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the Gene.
CRISPR J
October 2024
Department of Hematology, Oncology, Immunology and Rheumatology, University Hospital Tübingen, Tübingen, Germany.
Article Synopsis
- Safety is crucial in gene therapies for inherited preleukemia syndromes like severe congenital neutropenia (CN), and various CRISPR/Cas9 strategies were tested on CD34 cells from CN patients.
- All gene editing methods, including universal knockout and allele-specific mutation correction, showed at least 30% editing success without toxicity and helped restore blood cell production.
- Personalized assessments of off-target effects were conducted using patient-derived stem cells, revealing that allele-specific methods had the best safety profiles, highlighting the need for careful strategy selection in gene therapies for these diseases.
Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.
Front Immunol
September 2024
Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Article Synopsis
- Patients with JAGN1 mutations experience severe congenital neutropenia, leading to high rates of bacterial infections and poor response to G-CSF therapy.
- Two unrelated patients, one pregnant and one an infant, received GM-CSF after G-CSF failure, but neither showed an increase in neutrophil counts and treatment was eventually stopped due to further declines and infections.
- Despite the promising results in a mouse model, GM-CSF therapy did not benefit the patients, highlighting the need for early evaluation for hematopoietic stem cell transplantation in these cases.
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.
J Clin Immunol
August 2024
Department of Immunology, Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No. 56 Nanlishi Road, Beijing, 100045, China.
Severe congenital neutropenia (SCN) comprises a diverse range of rare hematological disorders characterized by recurrent, often life-threatening infections that manifest within the first months of life. Mutations in the ELANE gene are the most prevalent cause of SCN. While over 230 mutations in ELANE have been documented, including substitutions, frameshifts, nonsense mutations, and splice site alterations, the occurrence of deep intronic mutations has not been previously reported.
View Article and Find Full Text PDFProtein Network Alterations in G-CSF Treated Severe Congenital Neutropenia Patients and Beneficial Effects of Oral Health Intervention.
Proteomics Clin Appl
November 2024
Division of Oral Health and Periodontology, Department of Dental Medicine, Karolinska Institutet, Huddinge, Sweden.
Purpose: Severe congenital neutropenia (SCN) is a raredisorder characterized by diminished neutrophil levels. Despite granulocytecolony-stimulating factor (G-CSF) treatment, SCN patients remain still prone tosevere infections, including periodontal disease-a significant oral healthrisk. This study investigates the host proteome and metaproteome in saliva andgingival crevicular fluid (GCF) of G-CSF-treated patients.
View Article and Find Full Text PDFWant 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!