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Neutropenia, severe congenital, 10, autosomal recessive(SCN10)

MedGen UID:
1051928
•Concept ID:
CN375555
•
Disease or Syndrome
Synonym: SCN10
 
Gene (location): SRP68 (17q25.1)
 
Monarch Initiative: MONDO:0957809
OMIM®: 620534

Definition

Autosomal recessive severe congenital neutropenia-10 (SCN10) is characterized by infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Anemia and thrombocytopenia may be transiently present. The disorder results from impaired development of granulocyte precursors and neutrophils (Schmaltz-Panneau et al., 2021). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Professional guidelines

PubMed

Historical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival.
Spoor J, Farajifard H, Keshavarz-Fathi M, Rezaei N
J Pediatr Hematol Oncol 2023 Jul 1;45(5):e643-e649. Epub 2023 Apr 10 doi: 10.1097/MPH.0000000000002670. PMID: 37053506
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C
Blood 2008 May 15;111(10):4954-7. Epub 2008 Mar 12 doi: 10.1182/blood-2007-11-120667. PMID: 18337561

Recent clinical studies

Etiology

Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
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
Congenital neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235

Diagnosis

Historical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival.
Spoor J, Farajifard H, Keshavarz-Fathi M, Rezaei N
J Pediatr Hematol Oncol 2023 Jul 1;45(5):e643-e649. Epub 2023 Apr 10 doi: 10.1097/MPH.0000000000002670. PMID: 37053506
Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
López-Rodríguez L, Svyryd Y, Benítez-Alonso EO, Rivero-García P, Luna-Muñoz L, Mutchinick OM
Rev Invest Clin 2022;74(6):328-339. doi: 10.24875/RIC.22000234. PMID: 36546889
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, Ravel-Vilk S, Laor R, Attias D, Ben Barak A, Shtager D, Stein J, Kuperman A, Miskin H, Dgany O, Giri N, Alter BP, Tamary H
Pediatr Blood Cancer 2015 Jan;62(1):103-8. Epub 2014 Oct 4 doi: 10.1002/pbc.25251. PMID: 25284454
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
Congenital neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235

Therapy

Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
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
Congenital neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235
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

Historical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival.
Spoor J, Farajifard H, Keshavarz-Fathi M, Rezaei N
J Pediatr Hematol Oncol 2023 Jul 1;45(5):e643-e649. Epub 2023 Apr 10 doi: 10.1097/MPH.0000000000002670. PMID: 37053506
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, Ravel-Vilk S, Laor R, Attias D, Ben Barak A, Shtager D, Stein J, Kuperman A, Miskin H, Dgany O, Giri N, Alter BP, Tamary H
Pediatr Blood Cancer 2015 Jan;62(1):103-8. Epub 2014 Oct 4 doi: 10.1002/pbc.25251. PMID: 25284454
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
Congenital neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235
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

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
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.
Carlsson G, Fasth A, Berglöf E, Lagerstedt-Robinson K, Nordenskjöld M, Palmblad J, Henter JI, Fadeel B
Br J Haematol 2012 Aug;158(3):363-9. Epub 2012 May 25 doi: 10.1111/j.1365-2141.2012.09171.x. PMID: 22624626
Prevention and control of infections in patients with severe congenital neutropenia; a follow up study.
Salehi T, Fazlollahi MR, Maddah M, Nayebpour M, Tabatabaei Yazdi M, Alizadeh Z, Eshghi P, Chavoshzadeh Z, Movahedi M, Hamidieh AA, Cheraghi T, Pourpak Z, Moin M
Iran J Allergy Asthma Immunol 2012 Mar;11(1):51-6. PMID: 22427476
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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