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Autosomal recessive severe congenital neutropenia due to CSF3R deficiency(SCN7)

MedGen UID:
934731
Concept ID:
C4310764
Disease or Syndrome
Synonym: Neutropenia, severe congenital, 7, autosomal recessive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CSF3R (1p34.3)
 
Monarch Initiative: MONDO:0014865
OMIM®: 617014
Orphanet: ORPHA420702

Definition

Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by onset of recurrent infections in infancy or early childhood. Patients have peripheral neutropenia, although bone marrow biopsy shows normal granulocyte maturation. The neutropenia is not responsive to treatment with G-CSF, but may be responsive to GM-CSF (summary by Triot et al., 2014 and Klimiankou et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Clinical features

From HPO
Bone marrow maturation arrest
MedGen UID:
549798
Concept ID:
C0302173
Cell or Molecular Dysfunction
Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive severe congenital neutropenia due to CSF3R deficiency

Recent clinical studies

Etiology

Garg B, Mehta HM, Wang B, Kamel R, Horwitz MS, Corey SJ
J Biol Chem 2020 May 22;295(21):7492-7500. Epub 2020 Apr 16 doi: 10.1074/jbc.RA120.012366. PMID: 32299910Free PMC Article
Aydogmus C, Cipe F, Tas M, Akinel A, Öner Ö, Keskindemirci G, Bornaun H, Kutluk G, Hocaoglu AB
Asian Pac J Allergy Immunol 2016 Mar;34(1):73-6. doi: 10.12932/AP0618.34.1.2016. PMID: 26994629

Diagnosis

Aydogmus C, Cipe F, Tas M, Akinel A, Öner Ö, Keskindemirci G, Bornaun H, Kutluk G, Hocaoglu AB
Asian Pac J Allergy Immunol 2016 Mar;34(1):73-6. doi: 10.12932/AP0618.34.1.2016. PMID: 26994629

Therapy

Sapra A, Jaksik R, Mehta H, Biesiadny S, Kimmel M, Corey SJ
Mutagenesis 2020 Dec 1;35(5):381-389. doi: 10.1093/mutage/geaa027. PMID: 33511998Free PMC Article
Aydogmus C, Cipe F, Tas M, Akinel A, Öner Ö, Keskindemirci G, Bornaun H, Kutluk G, Hocaoglu AB
Asian Pac J Allergy Immunol 2016 Mar;34(1):73-6. doi: 10.12932/AP0618.34.1.2016. PMID: 26994629

Clinical prediction guides

Sapra A, Jaksik R, Mehta H, Biesiadny S, Kimmel M, Corey SJ
Mutagenesis 2020 Dec 1;35(5):381-389. doi: 10.1093/mutage/geaa027. PMID: 33511998Free PMC Article
Garg B, Mehta HM, Wang B, Kamel R, Horwitz MS, Corey SJ
J Biol Chem 2020 May 22;295(21):7492-7500. Epub 2020 Apr 16 doi: 10.1074/jbc.RA120.012366. PMID: 32299910Free PMC Article

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