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Autosomal recessive severe congenital neutropenia

MONDO:0028226

3 clinical trials for this condition and its sub-types.

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Sub-types

Kostmann syndrome (3) Autosomal recessive severe congenital neutropenia due to CSF3R deficiency (0) Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency (0) Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (0) Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (0) Congenital neutropenia-myelofibrosis-nephromegaly syndrome (0)

Broader categories

Disease (717) Hereditary disease (188) Hematologic disorder (172) Immune system disorder (150) Neutropenia (33) Human disease (15) Leukocyte disorder (6) Leukopenia (6) Severe congenital neutropenia (5) Autosomal recessive disease (4)
Trials to join now! 2 Completed 1
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  • Scientists hunt for hidden genes behind rare childhood disease

    Knowledge-focused Completed

    This study looked for new genes that cause a rare condition called syndromic congenital neutropenia, where children are born with low infection-fighting white blood cells and other developmental issues. Researchers used advanced gene sequencing on 25 participants to find the gene…

    Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused

    Last updated Jun 27, 2026 11:01 UTC

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