Case Report
Accepted on 11 May 2026
Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report
in Pediatric Immunology
Frontiers in Pediatrics
5 articles related to "Compound Heterozygote Mutation"
Articles
Case Report
Published on 10 Mar 2022
Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.831284
- 3,275 views
- 3 citations
Case Report
Published on 14 Mar 2025
Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1476541
- 2,425 views
Case Report
Published on 13 Jan 2021
Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations
in Pediatric Gastroenterology, Hepatology and Nutrition
Frontiers in Pediatrics
doi 10.3389/fped.2020.607005
- 7,067 views
- 13 citations
Case Report
Published on 04 Mar 2020
Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00126
- 7,041 views
- 20 citations