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Neutropenia, severe congenital, 2, autosomal dominant(SCN2)

MedGen UID:
413975
•Concept ID:
C2751288
•
Disease or Syndrome
Synonyms: Neutropenia, Severe Congenital, Autosomal Dominant 2; Severe Congenital Neutropenia-2
 
Gene (location): GFI1 (1p22.1)
 
Monarch Initiative: MONDO:0013139
OMIM®: 613107

Definition

Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the GFI1 gene, encoding zinc finger protein Gfi-1. [from NCI]

Clinical features

From HPO
Monocytosis
MedGen UID:
39091
•Concept ID:
C0085702
•
Disease or Syndrome
An increased number of circulating monocytes.
See: Feature record | Search on this feature
Neutropenia
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
An abnormally low number of neutrophils in the peripheral blood.
See: Feature record | Search on this feature
B lymphocytopenia
MedGen UID:
340780
•Concept ID:
C1855067
•
Finding
An abnormal decrease from the normal count of B cells.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Congenital neutropenia: diagnosis, molecular bases and patient management.
Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB
Orphanet J Rare Dis 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26. PMID: 21595885Free PMC Article

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
Novel genetic etiologies of severe congenital neutropenia.
Boztug K, Klein C
Curr Opin Immunol 2009 Oct;21(5):472-80. Epub 2009 Sep 24 doi: 10.1016/j.coi.2009.09.003. PMID: 19782549
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.
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

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
Congenital neutropenia: diagnosis, molecular bases and patient management.
Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB
Orphanet J Rare Dis 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26. PMID: 21595885Free 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: new genes explain an old disease.
Bohn G, Welte K, Klein C
Curr Opin Rheumatol 2007 Nov;19(6):644-50. doi: 10.1097/BOR.0b013e3282f05cc2. PMID: 17917547

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
Congenital neutropenia: diagnosis, molecular bases and patient management.
Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB
Orphanet J Rare Dis 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26. PMID: 21595885Free 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.
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

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
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

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
Nemcikova M, Vejvalkova S, Fencl F, Sukova M, Krepelova A
Eur J Pediatr 2016 Apr;175(4):587-92. Epub 2015 Oct 31 doi: 10.1007/s00431-015-2658-6. PMID: 26518681

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    • OMIM(Genes)
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