Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.
G6PC3 deficiency
Severe congenital neutropenia
Whole exome sequencing
Journal
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
ISSN: 1710-1484
Titre abrégé: Allergy Asthma Clin Immunol
Pays: England
ID NLM: 101244313
Informations de publication
Date de publication:
09 Jun 2023
09 Jun 2023
Historique:
received:
24
09
2021
accepted:
06
05
2023
medline:
10
6
2023
pubmed:
10
6
2023
entrez:
9
6
2023
Statut:
epublish
Résumé
Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies. We report a male patient with confirmed G6PC3 deficiency presented with recurrent bacterial infections and multi-systemic complications. Our case was the first with a novel homozygous frameshift mutation in G6PC3. The patient demonstrated large platelets on his peripheral blood smear which is a rare presentation of this disease. As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia.
Sections du résumé
BACKGROUND
BACKGROUND
Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies.
CASE PRESENTATION
METHODS
We report a male patient with confirmed G6PC3 deficiency presented with recurrent bacterial infections and multi-systemic complications. Our case was the first with a novel homozygous frameshift mutation in G6PC3. The patient demonstrated large platelets on his peripheral blood smear which is a rare presentation of this disease.
CONCLUSION
CONCLUSIONS
As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia.
Identifiants
pubmed: 37296469
doi: 10.1186/s13223-023-00804-4
pii: 10.1186/s13223-023-00804-4
pmc: PMC10257254
doi:
Types de publication
Journal Article
Langues
eng
Pagination
51Informations de copyright
© 2023. The Author(s).
Références
Front Immunol. 2021 Jul 08;12:699743
pubmed: 34305938
Blood. 2011 Apr 7;117(14):3881-92
pubmed: 21292774
J Leukoc Biol. 2021 Jun;109(6):1147-1154
pubmed: 32930428
Eur J Hum Genet. 2011 Jan;19(1):18-22
pubmed: 20717171
Am J Hematol. 2011 Feb;86(2):235-7
pubmed: 21264919
J Pediatr. 2012 Apr;160(4):679-683.e2
pubmed: 22050868
Orphanet J Rare Dis. 2014 Dec 10;9:183
pubmed: 25491320
Trans Am Clin Climatol Assoc. 2006;117:13-31; discussion 31-2
pubmed: 18528462
Orphanet J Rare Dis. 2013 Jun 13;8:84
pubmed: 23758768
Front Immunol. 2017 Nov 06;8:1485
pubmed: 29163546
Orphanet J Rare Dis. 2011 May 19;6:26
pubmed: 21595885
Blood Adv. 2020 Dec 8;4(23):5888-5901
pubmed: 33259599
J Pediatr Hematol Oncol. 2016 Oct;38(7):e243-7
pubmed: 27571123
Br J Haematol. 2012 Jul;158(1):146-9
pubmed: 22469094
Pediatr Blood Cancer. 2015 Jan;62(1):103-8
pubmed: 25284454
J Clin Immunol. 2013 Nov;33(8):1403-6
pubmed: 24105461
J Clin Immunol. 2013 Apr;33(3):520-5
pubmed: 23180359
Gastroenterology. 2009 Apr;136(4):1261-71, e1-3
pubmed: 19230854
J Inherit Metab Dis. 2022 Jul;45(4):759-768
pubmed: 35506446
J Pediatr Hematol Oncol. 2016 May;38(4):324-8
pubmed: 26808373
Am J Med Genet A. 2010 Oct;152A(10):2609-11
pubmed: 20799326
N Engl J Med. 2009 Jan 1;360(1):32-43
pubmed: 19118303
Nat Rev Dis Primers. 2017 Jun 08;3:17032
pubmed: 28593997
Blood. 2020 Aug 27;136(9):1033-1043
pubmed: 32294159
Crit Rev Oncol Hematol. 2019 Jan;133:149-162
pubmed: 30661651