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

MedGen UID:
1851433
•Concept ID:
C5882756
•
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]

Clinical features

From HPO
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Dysplastic granulopoesis
MedGen UID:
868630
•Concept ID:
C4023030
•
Disease or Syndrome
See: Feature record | Search on this feature
Bone marrow arrest at the promyelocytic stage
MedGen UID:
1781449
•Concept ID:
C5539718
•
Cell or Molecular Dysfunction
A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.
See: Feature record | Search on this feature
Monocytosis
MedGen UID:
39091
•Concept ID:
C0085702
•
Disease or Syndrome
An increased number of circulating monocytes.
See: Feature record | Search on this feature
Anorectal abscess
MedGen UID:
540787
•Concept ID:
C0267567
•
Disease or Syndrome
An abscess located at the junction of the anal canal and the rectum.
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
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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

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
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.
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 and chronic neutrophilic leukemia: an intriguing molecular connection unveiled by oncogenic mutations in CSF3R.
Touw IP, Beekman R
Haematologica 2013 Oct;98(10):1490-2. doi: 10.3324/haematol.2013.090571. PMID: 24091926Free PMC Article
Kostmann disease with developmental delay in three patients.
Aytekin C, Germeshausen M, Tuygun N, Tanir G, Dogu F, Ikinciogullari A
Eur J Pediatr 2010 Jun;169(6):759-62. Epub 2010 Feb 23 doi: 10.1007/s00431-010-1151-5. PMID: 20177699
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

HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
Karapınar TH, Yılmaz Karapinar D, Oymak Y, Ay Y, Demirağ B, Aykut A, Onay H, Hazan F, Aydınok Y, Özkınay F, Vergin C
Br J Haematol 2017 May;177(4):597-600. Epub 2017 Feb 7 doi: 10.1111/bjh.14574. PMID: 28169428
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
Kostmann disease with developmental delay in three patients.
Aytekin C, Germeshausen M, Tuygun N, Tanir G, Dogu F, Ikinciogullari A
Eur J Pediatr 2010 Jun;169(6):759-62. Epub 2010 Feb 23 doi: 10.1007/s00431-010-1151-5. PMID: 20177699
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

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
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.
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

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
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
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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