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Autosomal dominant severe congenital neutropenia

MedGen UID:: 1665322
•Concept ID:: C4749612
•: Disease or Syndrome

Synonyms:	Autosomal Dominant SCN; Autosomal Dominant Severe Congenital Neutropenia; autosomal dominant severe congenital neutropenia; severe congenital neutropenia autosomal dominant; severe congenital neutropenia, autosomal dominant
SNOMED CT:	Autosomal dominant severe congenital neutropenia (770947009)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008742
Orphanet:	ORPHA486

Definition

A rare primary immunodeficiency disorder with characteristics of autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset severe recurrent bacterial infections. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant severe congenital neutropenia

Hematopoietic and Lymphoid System Disorder
- Hematologic disorder
  - Non-Neoplastic Hematologic and Lymphocytic Disorder
    - Congenital hematological disorder
      - Congenital neutropenia
        Severe congenital neutropenia
        Autosomal dominant severe congenital neutropenia
        Neutropenia, severe congenital, 1, autosomal dominant
        Neutropenia, severe congenital, 2, autosomal dominant

Recent clinical studies

Therapy

Severe congenital neutropenias.

Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997 Free PMC Article

Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.

Zeidler C, Germeshausen M, Klein C, Welte K
Br J Haematol 2009 Feb;144(4):459-67. Epub 2008 Dec 10 doi: 10.1111/j.1365-2141.2008.07425.x. PMID: 19120359

Severe congenital neutropenia: inheritance and pathophysiology.

Skokowa J, Germeshausen M, Zeidler C, Welte K
Curr Opin Hematol 2007 Jan;14(1):22-8. doi: 10.1097/00062752-200701000-00006. PMID: 17133096

Severe congenital neutropenia.

Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461

Kostmann syndrome and severe congenital neutropenia.

Zeidler C, Welte K
Semin Hematol 2002 Apr;39(2):82-8. doi: 10.1053/shem.2002.31913. PMID: 11957189

See all (9)

Prognosis

Congenital neutropenia: From lab bench to clinic bedside and back.

Dobrewa W, Bielska M, Bąbol-Pokora K, Janczar S, Młynarski W
Mutat Res Rev Mutat Res 2024 Jan-Jun;793:108476. Epub 2023 Nov 19 doi: 10.1016/j.mrrev.2023.108476. PMID: 37989463

Severe congenital neutropenias.

Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997 Free PMC Article

Severe congenital neutropenia.

Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461

Neutrophil elastase mutations in congenital neutropenia.

Ancliff PJ, Gale RE, Linch DC
Hematology 2003 Jun;8(3):165-71. doi: 10.1080/1024533031000107497. PMID: 12745650

Kostmann syndrome and severe congenital neutropenia.

Zeidler C, Welte K
Semin Hematol 2002 Apr;39(2):82-8. doi: 10.1053/shem.2002.31913. PMID: 11957189

See all (7)

Clinical prediction guides

Congenital neutropenia: From lab bench to clinic bedside and back.

Dobrewa W, Bielska M, Bąbol-Pokora K, Janczar S, Młynarski W
Mutat Res Rev Mutat Res 2024 Jan-Jun;793:108476. Epub 2023 Nov 19 doi: 10.1016/j.mrrev.2023.108476. PMID: 37989463

Heterozygous variants of CLPB are a cause of severe congenital neutropenia.

Warren JT, Cupo RR, Wattanasirakul P, Spencer DH, Locke AE, Makaryan V, Bolyard AA, Kelley ML, Kingston NL, Shorter J, Bellanné-Chantelot C, Donadieu J, Dale DC, Link DC
Blood 2022 Feb 3;139(5):779-791. doi: 10.1182/blood.2021010762. PMID: 34115842 Free PMC Article

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.

Schürch C, Schaefer T, Müller JS, Hanns P, Arnone M, Dumlin A, Schärer J, Sinning I, Wild K, Skokowa J, Welte K, Carapito R, Bahram S, Konantz M, Lengerke C
Blood 2021 Mar 11;137(10):1340-1352. doi: 10.1182/blood.2020008115. PMID: 33227812 Free PMC Article

Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.

Zeidler C, Germeshausen M, Klein C, Welte K
Br J Haematol 2009 Feb;144(4):459-67. Epub 2008 Dec 10 doi: 10.1111/j.1365-2141.2008.07425.x. PMID: 19120359

Severe congenital neutropenia: inheritance and pathophysiology.

Skokowa J, Germeshausen M, Zeidler C, Welte K
Curr Opin Hematol 2007 Jan;14(1):22-8. doi: 10.1097/00062752-200701000-00006. PMID: 17133096

See all (9)

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Autosomal dominant severe congenital neutropenia

Definition

Term Hierarchy

Recent clinical studies

Therapy

Prognosis

Clinical prediction guides

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