Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease

Liang Zhang^#^{1

2}, Lang Yu^#^{3

4

5}, Junshuai Li^#^{2

6}, Zhihui Li^{7

8}, Xiaodong Zhao^{9

10

11}

Affiliations

¹ Department of Nephrology, Rheumatology and Immunology, Hunan Children's Hospital, Changsha, Hunan, China.
² The School of Pediatrics, Hengyang Medical School, University of South China, Hengyang, Hunan, China.
³ Department of Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
⁴ Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
⁵ Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.
⁶ Department of Neonatology, Hunan Children's Hospital, Changsha, China.
⁷ Department of Nephrology, Rheumatology and Immunology, Hunan Children's Hospital, Changsha, Hunan, China. Lizh0731@aliyun.com.
⁸ The School of Pediatrics, Hengyang Medical School, University of South China, Hengyang, Hunan, China. Lizh0731@aliyun.com.
⁹ Department of Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.
¹⁰ Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.
¹¹ Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.

^# Contributed equally.

PMID: 37095426
DOI: 10.1007/s10875-023-01492-w

Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease

Liang Zhang et al. J Clin Immunol. 2023 Aug.

. 2023 Aug;43(6):1131-1133.

doi: 10.1007/s10875-023-01492-w. Epub 2023 Apr 24.

Authors

Liang Zhang^#^{1

2}, Lang Yu^#^{3

4

5}, Junshuai Li^#^{2

6}, Zhihui Li^{7

8}, Xiaodong Zhao^{9

10

11}

Affiliations

¹ Department of Nephrology, Rheumatology and Immunology, Hunan Children's Hospital, Changsha, Hunan, China.
² The School of Pediatrics, Hengyang Medical School, University of South China, Hengyang, Hunan, China.
³ Department of Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
⁴ Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
⁵ Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.
⁶ Department of Neonatology, Hunan Children's Hospital, Changsha, China.
⁷ Department of Nephrology, Rheumatology and Immunology, Hunan Children's Hospital, Changsha, Hunan, China. Lizh0731@aliyun.com.
⁸ The School of Pediatrics, Hengyang Medical School, University of South China, Hengyang, Hunan, China. Lizh0731@aliyun.com.
⁹ Department of Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.
¹⁰ Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.
¹¹ Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.

^# Contributed equally.

PMID: 37095426
DOI: 10.1007/s10875-023-01492-w

No abstract available

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References

1. Dinauer MC. Inflammatory consequences of inherited disorders affecting neutrophil function. Blood. 2019;133(20):2130–9. - DOI - PubMed - PMC
1. Miladinovic M, Wittekindt B, Fischer S, Gradhand E, Kunzmann S, Zimmermann SY, et al. Case report: symptomatic chronic granulomatous disease in the newborn. Front Immunol. 2021;12:663883. - DOI - PubMed - PMC
1. Marzollo A, Conti F, Rossini L, Rivalta B, Leonardi L, Tretti C, et al. Neonatal manifestations of chronic granulomatous disease: MAS/HLH and necrotizing pneumonia as unusual phenotypes and review of the literature. J Clin Immunol. 2022;42(2):299–311. - DOI - PubMed
1. Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, et al. Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update). Blood Cells Mol Dis. 2021;92:102596. - DOI - PubMed
1. Tang W, Zhang Y, Luo C, Zhou L, Zhang Z, Tang X, et al. Clinical application of metagenomic next-generation sequencing for suspected infections in patients with primary immunodeficiency disease. Front Immunol. 2021;12:696403. - DOI - PubMed - PMC

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Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease

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Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease

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