Severe Congenital Neutropenia Latest Advances

Find the Latest Research About Severe Congenital Neutropenia

Last Updated: 04/28/2026

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Found 245 publications

SRP54-related congenital neutropenia: a multidisciplinary effort.

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.

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

De novo myeloid sarcoma of the oral cavity in early adolescence: an uncommon presentation with severe congenital neutropenia.

De novo myeloid sarcoma of the oral cavity in early adolescence: an uncommon presentation with severe congenital neutropenia.

Journal: BMJ case reports
Published: June 24, 2025

CLPB deficiency-associated congenital neutropenia: A rare case report and literature review.

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.

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

Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis.

Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis.

Journal: Blood advances
Published: March 17, 2025

Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.

Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.

Journal: The CRISPR journal
Published: October 22, 2024

Protein Network Alterations in G-CSF Treated Severe Congenital Neutropenia Patients and Beneficial Effects of Oral Health Intervention.

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.

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

Journal: Journal of clinical immunology
Published: June 17, 2024

De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.

De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.

Journal: Journal of clinical immunology
Published: March 19, 2024

Absence of Neutropenia in Patients With Early Exon Nonsense Mutations in ELANE : Clinical Evidence to Support Gene Therapy Approaches for Severe Congenital Neutropenia.

Absence of Neutropenia in Patients With Early Exon Nonsense Mutations in ELANE : Clinical Evidence to Support Gene Therapy Approaches for Severe Congenital Neutropenia.

Journal: Journal of pediatric hematology/oncology
Published: January 24, 2024

Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.

Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.

Journal: Frontiers in immunology
Published: January 19, 2024
Showing 1-12 of 245

Last Updated: 04/28/2026