Associated Papers
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
Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
Pekpak Sahinoglu E et al.
Journal of Pediatric Hematology/oncology, 2024
A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
Goktas S et al.
Journal of Pediatric Hematology/oncology, 2022
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
Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
Cekic S et al.
Journal of Clinical Immunology, 2017
HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
Karapınar TH et al.
British Journal of Haematology, 2017
Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders.
Patiroglu T et al.
Genetic Counseling (geneva, Switzerland), 2013
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
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Germeshausen M et al.
Blood, 2008
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C et al.
Nature Genetics, 2007
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