Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient
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..
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:19 |
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| Enthalten in: |
Allergy, asthma and clinical immunology - 19(2023), 1 vom: 09. Juni |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Moradian, Negar [VerfasserIn] |
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| Links: |
Volltext [kostenfrei] |
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| Themen: |
G6PC3 deficiency |
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| Anmerkungen: |
© The Author(s) 2023 |
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| doi: |
10.1186/s13223-023-00804-4 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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OLC214378595X |
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| 245 | 1 | 0 | |a Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient |
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| 520 | |a 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. | ||
| 650 | 4 | |a Severe congenital neutropenia | |
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