|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
We sought to determine the relationship between HAX1 gene mutations and the clinical characteristics of Japanese cases of SCN.
|
18611981 |
2008 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
We retrospectively evaluated the clinical and laboratory findings of the patients diagnosed with SCN carrying HAX1 gene mutations.
|
26994629 |
2016 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
We report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1.
|
30473482 |
2019 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
We described an SCN patient with a homozygous 256C-to-T transition causing an R86X mutation in the HAX1 gene.
|
18055975 |
2007 |
|
Severe congenital neutropenia
|
0.800 |
Biomarker
|
phenotype |
BEFREE |
To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm(3) over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12 ± 2.49 months) in a primary immunodeficiency disease center between 2004 and 2011.
|
23206890 |
2013 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
This review highlights historical milestones and our current understanding of SCN related to mutations in HAX1.
|
27943080 |
2017 |
|
Severe congenital neutropenia
|
0.800 |
Biomarker
|
phenotype |
BEFREE |
The role of HAX-1 protein as a regulatory step in apoptosis provides further evidence for severe congenital neutropenia as a disorder of programmed cell death.
|
18043240 |
2008 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
The recent findings include identification of mutations in HAX1 in autosomal recessive severe congenital neutropenia (Kostmann disease), a large epidemiological study estimating the risk of progression from severe congenital neutropenia to leukemia, a better understanding of how heterozygous mutations in neutrophil elastase (ELA2) cause severe congenital neutropenia, molecular characterization of a novel syndromic form of severe congenital neutropenia called p14 deficiency and new animal models for several syndromic forms of severe congenital neutropenia.
|
17989524 |
2007 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
The HCLS1-associated protein X1 (HAX1) mutation is associated with an autosomal-recessive form of SCN.
|
30698159 |
2018 |
|
Severe congenital neutropenia
|
0.800 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
The genes implicated in SCN (ELA2, HAX1, Gfi-1, WAS, and P14) were analysed in 18 Japanese patients with SCN.
|
18611981 |
2008 |
|
Severe congenital neutropenia
|
0.800 |
Biomarker
|
phenotype |
BEFREE |
Recently, the identification of several novel genetic defects (e.g., p14-deficiency, HAX1-deficiency, AK2-deficiency) has shed light on the pathophysiology of congenital neutropenia.
|
19811314 |
2009 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Recently, homozygous mutations in the antiapoptotic gene HAX1 were found in patients with autosomal recessive severe congenital neutropenia.
|
17917547 |
2007 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Recent studies have shown that homozygous mutations in the HAX1 gene are associated with autosomal recessive forms of severe congenital neutropenia (also known as Kostmann disease), and results from studies in mice and men are beginning to unravel a prominent role for HAX-1 in apoptosis signaling not only in the hematopoietic compartment, but also in the central nervous system.
|
19524642 |
2009 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Our report describes the only nonsense mutation in the HAX1 gene present in SCN patients of Arab origin.
|
20182745 |
2010 |
|
Severe congenital neutropenia
|
0.800 |
CausalMutation
|
phenotype |
CLINVAR |
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
|
20065084 |
2010 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
|
18337561 |
2008 |
|
Severe congenital neutropenia
|
0.800 |
CausalMutation
|
phenotype |
CLINVAR |
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
|
24482108 |
2014 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
|
24482108 |
2014 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency.
|
19123440 |
2008 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
It is now well-established that mutations in HAX1 and ELANE (and more rarely in other genes) are the genetic cause of SCN.
|
26637693 |
2015 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN).
|
28681255 |
2017 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Homozygous mutations in the HAX1 gene were described in patients with autosomal recessive SCN or Kostmann disease.
|
23050867 |
2013 |
|
Severe congenital neutropenia
|
0.800 |
CausalMutation
|
phenotype |
CLINVAR |
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
|
19036076 |
2009 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
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.
|
31321910 |
2019 |
|
Severe congenital neutropenia
|
0.800 |
GeneticVariation
|
phenotype |
BEFREE |
Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann.
|
19499579 |
2009 |