Severe Congenital Neutropenia Latest Advances

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

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

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

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.

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

Severe Congenital Neutropenia Latest Advances

Find the Latest Research About Severe Congenital Neutropenia

SRP54-related congenital neutropenia: a multidisciplinary effort.

SRP54-related congenital neutropenia: a multidisciplinary effort.

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.

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.

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

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

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.

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.

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.