Severe Congenital Neutropenia Latest Advances

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

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

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

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

Journal: Journal of clinical immunology

Published: March 19, 2024

Congenital neutropenia and acute graft-versus-host disease in an infant. A case report

Journal: Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)

Published: February 22, 2024

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.

Journal: Frontiers in immunology

Published: January 19, 2024

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.

Journal: Journal of clinical pathology

Published: January 18, 2024

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Patient with severe congenital neutropenia associated with ELANE gene mutation: c.684C>G, p.Tyr228Ter

Patient with severe congenital neutropenia associated with ELANE gene mutation: c.684C>G, p.Tyr228Ter

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.

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.

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.

A Little Known but Very Common Phenotype in Patients With Severe Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Insufficiency.

A Little Known but Very Common Phenotype in Patients With Severe Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Insufficiency.

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.

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

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

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

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

Congenital neutropenia and acute graft-versus-host disease in an infant. A case report

Congenital neutropenia and acute graft-versus-host disease in an infant. A case report

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.

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.

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.