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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]

Recent clinical studies

Etiology

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: 28593997Free PMC Article
Cyclic and chronic neutropenia.
Dale DC, Welte K
Cancer Treat Res 2011;157:97-108. doi: 10.1007/978-1-4419-7073-2_6. PMID: 21052952
Severe congenital neutropenia.
Welte K, Zeidler C
Hematol Oncol Clin North Am 2009 Apr;23(2):307-20. doi: 10.1016/j.hoc.2009.01.013. PMID: 19327585
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

Diagnosis

WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.
Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM
J Clin Immunol 2019 Aug;39(6):532-556. Epub 2019 Jul 16 doi: 10.1007/s10875-019-00665-w. PMID: 31313072Free PMC Article
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: 28593997Free PMC Article
TCIRG1-associated congenital neutropenia.
Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC; UW Center for Mendelian Genomics
Hum Mutat 2014 Jul;35(7):824-7. Epub 2014 May 21 doi: 10.1002/humu.22563. PMID: 24753205Free PMC Article
Cyclic and chronic neutropenia.
Dale DC, Welte K
Cancer Treat Res 2011;157:97-108. doi: 10.1007/978-1-4419-7073-2_6. PMID: 21052952
Severe congenital neutropenia.
Welte K, Zeidler C
Hematol Oncol Clin North Am 2009 Apr;23(2):307-20. doi: 10.1016/j.hoc.2009.01.013. PMID: 19327585

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: 28593997Free PMC Article
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.
van de Vosse E, Verhard EM, Tool AJ, de Visser AW, Kuijpers TW, Hiemstra PS, van Dissel JT
Ann Hematol 2011 Feb;90(2):151-8. Epub 2010 Aug 28 doi: 10.1007/s00277-010-1056-4. PMID: 20803142Free PMC Article
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

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: 28593997Free 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

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: 34115842Free 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: 33227812Free 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

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