Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease
© 2019 The Authors. Pediatric Allergy and Immunology Published by John Wiley & Sons Ltd..
BACKGROUND: Chronic granulomatous disease (CGD) is a rare disease in China, and very little large-scale studies have been conducted to date. We aimed to investigate the clinical and genetic features of CGD in Chinese pediatric patients.
METHODS: Pediatric patients with CGD from Beijing Children's Hospital, Capital Medical University, China, were enrolled from January 2006 to December 2016.
RESULTS: A total of 159 pediatric patients with CGD were enrolled. The median age of clinical onset was 1.4 months, and 73% (116/159) had clinical onset symptoms before the 1 year of age. The most common site of invasion was the lungs. The lymph nodes, liver, and skin were more frequently invaded in X-linked (XL) CGD patients than in autosomal recessive (AR) CGD patients (P < 0.05). Approximately 64% (92/144) of the pediatric patients suffered from abnormal response to BCG vaccination. The most frequent pathogens were Aspergillus and Mycobacterium tuberculosis. Gene analysis indicated that 132 cases (89%, 132/147) harbored CYBB pathogenic variants, 7 (5%, 7/147) carried CYBA pathogenic variants, 4 (3%, 4/147) had NCF1 pathogenic variants, and 4 (3%, 4/147) had NCF2 pathogenic variants. The overall mortality rate in this study was 43%, particularly the patients were males, with CYBB mutant and did not receive HSCT treatment.
CONCLUSIONS: Chronic granulomatous disease is a rare disease affecting Chinese children; however, it is often diagnosed at a later age, and thus, the mortality rate is relatively high. The prevalence and the severity of disease in XL-CGD are higher than AR-CGD.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2019 |
|---|---|
| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:30 |
|---|---|
| Enthalten in: |
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 30(2019), 3 vom: 01. Mai, Seite 378-386 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Gao, Li-Wei [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 12.06.2019 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1111/pai.13033 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM293429294 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM293429294 | ||
| 003 | DE-627 | ||
| 005 | 20231225075312.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2019 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1111/pai.13033 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0978.xml |
| 035 | |a (DE-627)NLM293429294 | ||
| 035 | |a (NLM)30716179 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Gao, Li-Wei |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease |
| 264 | 1 | |c 2019 | |
| 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 Completed 12.06.2019 | ||
| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2019 The Authors. Pediatric Allergy and Immunology Published by John Wiley & Sons Ltd. | ||
| 520 | |a BACKGROUND: Chronic granulomatous disease (CGD) is a rare disease in China, and very little large-scale studies have been conducted to date. We aimed to investigate the clinical and genetic features of CGD in Chinese pediatric patients | ||
| 520 | |a METHODS: Pediatric patients with CGD from Beijing Children's Hospital, Capital Medical University, China, were enrolled from January 2006 to December 2016 | ||
| 520 | |a RESULTS: A total of 159 pediatric patients with CGD were enrolled. The median age of clinical onset was 1.4 months, and 73% (116/159) had clinical onset symptoms before the 1 year of age. The most common site of invasion was the lungs. The lymph nodes, liver, and skin were more frequently invaded in X-linked (XL) CGD patients than in autosomal recessive (AR) CGD patients (P < 0.05). Approximately 64% (92/144) of the pediatric patients suffered from abnormal response to BCG vaccination. The most frequent pathogens were Aspergillus and Mycobacterium tuberculosis. Gene analysis indicated that 132 cases (89%, 132/147) harbored CYBB pathogenic variants, 7 (5%, 7/147) carried CYBA pathogenic variants, 4 (3%, 4/147) had NCF1 pathogenic variants, and 4 (3%, 4/147) had NCF2 pathogenic variants. The overall mortality rate in this study was 43%, particularly the patients were males, with CYBB mutant and did not receive HSCT treatment | ||
| 520 | |a CONCLUSIONS: Chronic granulomatous disease is a rare disease affecting Chinese children; however, it is often diagnosed at a later age, and thus, the mortality rate is relatively high. The prevalence and the severity of disease in XL-CGD are higher than AR-CGD | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a China | |
| 650 | 4 | |a children | |
| 650 | 4 | |a chronic granulomatous disease | |
| 650 | 4 | |a clinical | |
| 650 | 4 | |a genetics | |
| 650 | 7 | |a Anti-Infective Agents |2 NLM | |
| 650 | 7 | |a NADPH Oxidases |2 NLM | |
| 650 | 7 | |a EC 1.6.3.- |2 NLM | |
| 650 | 7 | |a CYBA protein, human |2 NLM | |
| 650 | 7 | |a EC 1.6.3.1 |2 NLM | |
| 650 | 7 | |a NCF2 protein, human |2 NLM | |
| 650 | 7 | |a EC 1.6.3.1 |2 NLM | |
| 650 | 7 | |a neutrophil cytosolic factor 1 |2 NLM | |
| 650 | 7 | |a EC 1.6.3.1 |2 NLM | |
| 700 | 1 | |a Yin, Qing-Qin |e verfasserin |4 aut | |
| 700 | 1 | |a Tong, Yue-Juan |e verfasserin |4 aut | |
| 700 | 1 | |a Gui, Jin-Gang |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Xiu-Yun |e verfasserin |4 aut | |
| 700 | 1 | |a Feng, Xue-Li |e verfasserin |4 aut | |
| 700 | 1 | |a Yin, Ju |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Jun |e verfasserin |4 aut | |
| 700 | 1 | |a Guo, Yan |e verfasserin |4 aut | |
| 700 | 1 | |a Yao, Yao |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Bao-Ping |e verfasserin |4 aut | |
| 700 | 1 | |a He, Jian-Xin |e verfasserin |4 aut | |
| 700 | 1 | |a Shen, Kun-Ling |e verfasserin |4 aut | |
| 700 | 1 | |a Lau, Yu-Lung |e verfasserin |4 aut | |
| 700 | 1 | |a Jiang, Zai-Fang |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology |d 1994 |g 30(2019), 3 vom: 01. Mai, Seite 378-386 |w (DE-627)NLM075107252 |x 1399-3038 |7 nnns |
| 773 | 1 | 8 | |g volume:30 |g year:2019 |g number:3 |g day:01 |g month:05 |g pages:378-386 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1111/pai.13033 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 30 |j 2019 |e 3 |b 01 |c 05 |h 378-386 | ||