Associated Papers
Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia.
Nasri M et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
A Little Known but Very Common Phenotype in Patients With Severe Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Insufficiency.
Kızılay DÖ et al.
Pediatric Blood & Cancer, 2025
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Rossi M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.
Caka C et al.
Journal of Clinical Immunology, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
Pekpak Sahinoglu E et al.
Journal of Pediatric Hematology/oncology, 2024
Historical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival.
Spoor J et al.
Journal of Pediatric Hematology/oncology, 2023
HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
Pogozhykh D et al.
British Journal of Haematology, 2023
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Linder MI et al.
Blood, 2023
Truncated CSF3 receptors induce pro-inflammatory responses in severe congenital neutropenia.
Olofsen PA et al.
British Journal of Haematology, 2023
The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
Arab F et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2022
A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.
Tayal A et al.
Journal of Pediatric Hematology/oncology, 2022
Kostmann disease and other forms of severe congenital neutropenia.
Fadeel B et al.
Acta Paediatrica (oslo, Norway : 1992), 2021
PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.
Olofsen PA et al.
Blood Advances, 2021
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V et al.
International Journal of Molecular Sciences, 2020
Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review.
Lyu B et al.
Frontiers in Pediatrics, 2020
Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
Yılmaz Karapınar D et al.
Pediatric Blood & Cancer, 2019
Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death
Olcay L et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2018
Cyclic manner of neutropenia in a patient with HAX-1 mutation.
Cipe FE et al.
Pediatric Hematology and Oncology, 2018
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin A et al.
Biomed Research International, 2018
Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
Cekic S et al.
Journal of Clinical Immunology, 2017
Severe congenital neutropenias.
Skokowa J et al.
Nature Reviews. Disease Primers, 2017
Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).
Klein C
Journal of Clinical Immunology, 2017
Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?
Carlsson G et al.
Acta Paediatrica (oslo, Norway : 1992), 2013
Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders.
Patiroglu T et al.
Genetic Counseling (geneva, Switzerland), 2013
Hematopoietic stem cell transplantation in severe congenital neutropenia.
Carlsson G et al.
Pediatric Blood & Cancer, 2011
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.
Boztug K et al.
American Journal of Medical Genetics. Part A, 2010
Recent advances in the understanding of genetic defects of neutrophil number and function.
Bouma G et al.
British Journal of Haematology, 2010
Kostmann disease with developmental delay in three patients.
Aytekin C et al.
European Journal of Pediatrics, 2010
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.
Faiyaz-Ul-Haque M et al.
European Journal of Pediatrics, 2010
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Lanciotti M et al.
Haematologica, 2010
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Carlsson G et al.
Pediatric Blood & Cancer, 2009
[Neurological findings in severe congenital neutropenia with HAX1 mutations].
Ishikawa N et al.
No to Hattatsu = Brain and Development, 2009
HAX-1: a multifunctional protein with emerging roles in human disease.
Fadeel B et al.
Biochimica Et Biophysica Acta, 2009
Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome.
Steinemann D et al.
British Journal of Haematology, 2009
The role of SERCA2a/PLN complex, Ca(2+) homeostasis, and anti-apoptotic proteins in determining cell fate.
Vafiadaki E et al.
Pflugers Archiv : European Journal of Physiology, 2009
Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency.
Mamishi S et al.
Journal of Investigational Allergology & Clinical Immunology, 2009
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
Ishikawa N et al.
Journal of Medical Genetics, 2008
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
Carlsson G et al.
Journal of Internal Medicine, 2008
Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues.
Lees DM et al.
Journal of Molecular Biology, 2008
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Germeshausen M et al.
Blood, 2008
Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.
Matsubara K et al.
Haematologica, 2007
The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia.
Rezaei N et al.
Journal of Clinical Immunology, 2007
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.
Carlsson G et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C et al.
Nature Genetics, 2007
Severe congenital neutropenia: genetics and pathogenesis.
Boxer LA
Transactions of the American Clinical and Climatological Association, 2006
HAX1 mutation in an infant with severe congenital neutropenia.
Eghbali A et al.
The Turkish Journal of Pediatrics, 0