TY - JOUR
T1 - Severe congenital neutropenia due to G6PC3 deficiency
T2 - early and delayed phenotype of a patient
AU - Moradian, Negar
AU - Zoghi, Samaneh
AU - Rayzan, Elham
AU - Seyedpour, Simin
AU - Jimenez Heredia, Raul
AU - Boztug, Kaan
AU - Rezaei, Nima
N1 - Publisher Copyright:
© 2023, The Author(s).
PY - 2023/12
Y1 - 2023/12
N2 - 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: 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: As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia.
AB - 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: 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: As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia.
KW - G6PC3 deficiency
KW - Severe congenital neutropenia
KW - Whole exome sequencing
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U2 - 10.1186/s13223-023-00804-4
DO - 10.1186/s13223-023-00804-4
M3 - Article
AN - SCOPUS:85163086854
SN - 1710-1484
VL - 19
JO - Allergy, Asthma and Clinical Immunology
JF - Allergy, Asthma and Clinical Immunology
IS - 1
M1 - 51
ER -