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Severe congenital neutropenia(SCN)

MedGen UID:
343974
Concept ID:
C1853118
Disease or Syndrome
Synonym: SCN
SNOMED CT: Severe infantile genetic neutropenia (89655007); Severe congenital neutropenia (89655007)
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).
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.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Related genes: G6PC3, JAGN1, VPS45, HAX1, WAS, GFI1, ELANE
 
Monarch Initiative: MONDO:0018542
OMIM® Phenotypic series: PS202700
Orphanet: ORPHA42738

Definition

Severe congenital neutropenia is a condition that increases the risk of repeated infections in affected individuals. People with this condition have an abnormally low level (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The shortage of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to frequent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and likely to fracture. In people with severe congenital neutropenia, bone disorders can begin at any time from infancy through adulthood.

Approximately 20 percent of people with severe congenital neutropenia develop certain cancerous conditions of the blood, particularly myelodysplastic syndrome or leukemia during adolescence.

Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Dannenmann B, Skokowa J
STAR Protoc 2022 Jun 17;3(2):101400. Epub 2022 May 14 doi: 10.1016/j.xpro.2022.101400. PMID: 35600931Free PMC Article
Touw IP
Curr Opin Hematol 2022 Jan 1;29(1):27-33. doi: 10.1097/MOH.0000000000000696. PMID: 34854832Free PMC Article
Badolato R, Fontana S, Notarangelo LD, Savoldi G
Curr Opin Allergy Clin Immunol 2004 Dec;4(6):513-21. doi: 10.1097/00130832-200412000-00007. PMID: 15640692

Recent clinical studies

Etiology

Molteni E, Bono E, Gallì A, Elena C, Ferrari J, Fiorelli N, Pozzi S, Ferretti VV, Sarchi M, Rizzo E, Camilotto V, Boveri E, Cazzola M, Malcovati L
Blood 2023 Aug 17;142(7):643-657. doi: 10.1182/blood.2022019304. PMID: 37216690Free PMC Article
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Čermák J
Vnitr Lek 2018 Summer;64(5):520-525. PMID: 30193521
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
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

Diagnosis

Molteni E, Bono E, Gallì A, Elena C, Ferrari J, Fiorelli N, Pozzi S, Ferretti VV, Sarchi M, Rizzo E, Camilotto V, Boveri E, Cazzola M, Malcovati L
Blood 2023 Aug 17;142(7):643-657. doi: 10.1182/blood.2022019304. PMID: 37216690Free PMC Article
Rydzynska Z, Pawlik B, Krzyzanowski D, Mlynarski W, Madzio J
Front Immunol 2021;12:653932. Epub 2021 Apr 22 doi: 10.3389/fimmu.2021.653932. PMID: 33968054Free PMC Article
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Čermák J
Vnitr Lek 2018 Summer;64(5):520-525. PMID: 30193521
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

Therapy

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
Connelly JA, Choi SW, Levine JE
Curr Opin Hematol 2012 Jan;19(1):44-51. doi: 10.1097/MOH.0b013e32834da96e. PMID: 22080845Free PMC Article
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
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Zeidler C, Welte K
Semin Hematol 2002 Apr;39(2):82-8. doi: 10.1053/shem.2002.31913. PMID: 11957189

Prognosis

Costa A, Vázquez F, Ortega C, Fernández S, Gómez E, Santamaría M
Pediatr Blood Cancer 2023 Mar;70(3):e30043. Epub 2022 Nov 1 doi: 10.1002/pbc.30043. PMID: 36317554
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
Ward AC, Dale DC
Curr Opin Hematol 2009 Jan;16(1):9-13. doi: 10.1097/MOH.0b013e32831952de. PMID: 19057199Free PMC Article
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Zeidler C, Welte K
Semin Hematol 2002 Apr;39(2):82-8. doi: 10.1053/shem.2002.31913. PMID: 11957189

Clinical prediction guides

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
Zaura E, Brandt BW, Buijs MJ, Emingil G, Ergüz M, Karapinar DY, Pekpinarli B, Bao K, Belibasakis GN, Bostanci N
Proteomics Clin Appl 2020 May;14(3):e1900058. Epub 2020 Mar 3 doi: 10.1002/prca.201900058. PMID: 32026584Free PMC Article
Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC
Curr Opin Hematol 2015 Jan;22(1):3-11. doi: 10.1097/MOH.0000000000000105. PMID: 25427142Free PMC Article
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
Badolato R, Fontana S, Notarangelo LD, Savoldi G
Curr Opin Allergy Clin Immunol 2004 Dec;4(6):513-21. doi: 10.1097/00130832-200412000-00007. PMID: 15640692

Recent systematic reviews

Lava SAG, Laurence C, Di Deo A, Sekarski N, Burch M, Della Pasqua O
Paediatr Drugs 2024 May;26(3):229-243. Epub 2024 Apr 18 doi: 10.1007/s40272-024-00623-z. PMID: 38635113
Halai H, Somani C, Donos N, Nibali L
Clin Oral Investig 2020 Jun;24(6):1939-1951. Epub 2019 Oct 18 doi: 10.1007/s00784-019-03055-z. PMID: 31628543

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