Severe congenital neutropenia due to G6PC3 deficiency : early and delayed phenotype of a patient
© 2023. The Author(s)..
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 |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:19 |
|---|---|
| Enthalten in: |
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology - 19(2023), 1 vom: 09. Juni, Seite 51 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Moradian, Negar [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
G6PC3 deficiency |
|---|
| Anmerkungen: |
Date Revised 12.06.2023 published: Electronic Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.1186/s13223-023-00804-4 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM35798224X |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM35798224X | ||
| 003 | DE-627 | ||
| 005 | 20231226073752.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s13223-023-00804-4 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1193.xml |
| 035 | |a (DE-627)NLM35798224X | ||
| 035 | |a (NLM)37296469 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Moradian, Negar |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Severe congenital neutropenia due to G6PC3 deficiency |b early and delayed phenotype of a patient |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 12.06.2023 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a © 2023. The Author(s). | ||
| 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 Journal Article | |
| 650 | 4 | |a G6PC3 deficiency | |
| 650 | 4 | |a Severe congenital neutropenia | |
| 650 | 4 | |a Whole exome sequencing | |
| 700 | 1 | |a Zoghi, Samaneh |e verfasserin |4 aut | |
| 700 | 1 | |a Rayzan, Elham |e verfasserin |4 aut | |
| 700 | 1 | |a Seyedpour, Simin |e verfasserin |4 aut | |
| 700 | 1 | |a Jimenez Heredia, Raul |e verfasserin |4 aut | |
| 700 | 1 | |a Boztug, Kaan |e verfasserin |4 aut | |
| 700 | 1 | |a Rezaei, Nima |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology |d 2005 |g 19(2023), 1 vom: 09. Juni, Seite 51 |w (DE-627)NLM193134780 |x 1710-1484 |7 nnns |
| 773 | 1 | 8 | |g volume:19 |g year:2023 |g number:1 |g day:09 |g month:06 |g pages:51 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1186/s13223-023-00804-4 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 19 |j 2023 |e 1 |b 09 |c 06 |h 51 | ||