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UnknownGene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells.
Not available
S-EPMC5737589 | biostudies-literature
UnknownAssignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Not available
S-EPMC2721957 | biostudies-literature
GenomicsSalivary Oral Microbiome Signatures in KD
Salivary Oral Microbiome Signatures in Kostmann Syndrome
PRJEB27123 | ENA
ProteomicsQuantitative mass spectrometry of HAX1 WT and HAX1 KO promyelocytic cells reveal differences in amino acid synthesis and lipid metabolism
part of a project: Granulocyte differentiation arrest in HAX1-deficient cells demonstrated in a new in vitro model of Kostmann disease, is caused by ineffective lipid droplet autophagy and fatty acids uptake. Molecular and metabolic mechanisms underlying congenital neutropenia in patients with HAX1 ...
ORGANISM(S): Homo sapiens (Human) 
2026-04-22 | PXD064511 | Pride
Hax1 Lipid metabolism Lipid droplet autophagy Kostmann disease Neutrophil differentiation 
UnknownSevere congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.
Not available
S-EPMC7839451 | biostudies-literature
UnknownPrimary immunodeficiencies associated with eosinophilia.
Not available
S-EPMC4878059 | biostudies-literature
UnknownCLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Not available
S-EPMC4320260 | biostudies-literature
GenomicsTwo monogenic disorders masquerading as one: Severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. We performed whole exome sequencing to identify the causative variants. We identified and cla...
EGAS00001004176 | EGA
TranscriptomicsBulk RNA-sequencing of testes and kidneys from wildtype and Gfi1[R412X] embryonic mice
Embryonic (E17.5) testes and kidneys from wildtype or Gfi1[R412X] mice, a model of severe congenital neutropenia, were analyzed by bulk RNA-sequencing.
ORGANISM(S): Mus musculus 
2026-06-09 | E-MTAB-15317 | biostudies-arrayexpress
Genomics597c2383-cabe-41e2-8295-a6367d2f236e - samples
Raw Whole Exome Sequencing data from Blood samples drawn from related Female participants presenting severe congenital neutropenia.
EGAD00001005937 | EGA
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