Severe Congenital Neutropenia Latest Advances
Find the Latest Research About Severe Congenital Neutropenia
Last Updated: 06/30/2026
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Found 294 publications
SRP54-related congenital neutropenia: a multidisciplinary effort.
Journal: BMJ case reports
Published: February 04, 2026
Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.
Journal: International journal of molecular sciences
Published: December 30, 2025
Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia.
Journal: Molecular genetics & genomic medicine
Published: December 27, 2025
Patient with severe congenital neutropenia associated with ELANE gene mutation: c.684C>G, p.Tyr228Ter
Journal: Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
Published: October 02, 2025
CLPB deficiency-associated congenital neutropenia: A rare case report and literature review.
Journal: Medicine
Published: May 20, 2025
HAX1, gene responsible for Kostmann syndrome, regulates gingival epithelial barrier function via intracellular trafficking of JAM1.
Journal: Frontiers in cell and developmental biology
Published: May 07, 2025
Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.
Journal: The CRISPR journal
Published: October 22, 2024
A Little Known but Very Common Phenotype in Patients With Severe Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Insufficiency.
Journal: Pediatric blood & cancer
Published: September 19, 2024
Protein Network Alterations in G-CSF Treated Severe Congenital Neutropenia Patients and Beneficial Effects of Oral Health Intervention.
Journal: Proteomics. Clinical applications
Published: July 15, 2024
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Journal: Journal of clinical immunology
Published: June 17, 2024
Last Updated: 06/30/2026