LRBA 基因复合杂合突变致儿童弥漫性实质性肺疾病一例_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

宁俊杰 , 官晓艳 ,  王红宇 , 李雪梅

自贡市第一人民医院小儿呼吸科（四川自贡 643000）;

Corresponding author：

王红宇, Email: 1062148793@qq.com

Keywords：

DOI：

10.7507/1671-6205.201907071

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Citation： 宁俊杰, 官晓艳, 王红宇, 李雪梅. LRBA 基因复合杂合突变致儿童弥漫性实质性肺疾病一例. Chinese Journal of Respiratory and Critical Care Medicine, 2021, 20(4): 278-281. doi: 10.7507/1671-6205.201907071 Copy

1.	Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet, 2012, 90(6): 986-1001.
2.	Xu C, Min J. Structure and function of WD40 domain proteins. Protein Cell, 2011, 2: 202-214.
3.	Alkhairy OK, Abolhassani H, Rezaei N, et al. Spectrum of phenotypes associated with mutations in LRBA. J Clin Immunol, 2016, 36(1): 33-45.
4.	Gámez-Díaz L, August D, Stepensky P, et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol, 2016, 137(1): 223-230.
5.	Moser von Filseck J, Čopič A, Delfosse V, et al. INTRACELLULAR TRANSPORT. Phosphatidylserine transport by ORP/Osh proteins is driven by phosphatidylinositol 4-phosphate. Science, 2015, 349(6246): 432-436.
6.	Lenardo M, Lo B, Lucas CL, et al. Genomics of immune diseases and new therapies. Annu Rev Immunol, 2016, 34(1): 121-149.
7.	Schubert D, Bode C, Kenefeck R, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med, 2014, 20(12): 1410.
8.	Schwab C, Gabrysch A, Olbrich P, et al. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects. J Allergy Clin Immun, 2018, 142(6): 1932-1946.
9.	中华医学会儿科学分会呼吸学组全国儿童弥漫性肺实质疾病/肺间质疾病协作组. 儿童肺间质疾病诊断程序专家共识. 中华儿科杂志, 2013, 51(2): 101-102.
10.	Kurland G, Deterding RR, Hagood JS, et al. An official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy. Am J Respir Crit Care Med, 2013, 188: 376-394.
11.	Serwas NK, Kansu A, Santos-Valente E, et al. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflamm Bowel Dis, 2015, 21(1): 40-47.
12.	Bal SK, Haskologlu S, Serwas NK, et al. Multiple presentations of LRBA deficiency: a single-center experience. J Clin Immunol, 2017, 37(8): 790-800.
13.	Schussler E, Beasley MB, Maglione PJ. Lung disease in primary antibody deficiencies. J Allergy Clin Immunol Pract, 2016, 4(6): 1039-1052.
14.	Lo B, Zhang K, Lu W, et al. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science, 2015, 349(6246): 436-440.
15.	Kiykim A, Ogulur I, Dursun E, et al. Abatacept as a long-term targeted therapy for LRBA deficiency. J Allergy Clin Immunol Pract, 2019, 7(8): 2790-2800.

1. Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet, 2012, 90(6): 986-1001.
2. Xu C, Min J. Structure and function of WD40 domain proteins. Protein Cell, 2011, 2: 202-214.
3. Alkhairy OK, Abolhassani H, Rezaei N, et al. Spectrum of phenotypes associated with mutations in LRBA. J Clin Immunol, 2016, 36(1): 33-45.
4. Gámez-Díaz L, August D, Stepensky P, et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol, 2016, 137(1): 223-230.
5. Moser von Filseck J, Čopič A, Delfosse V, et al. INTRACELLULAR TRANSPORT. Phosphatidylserine transport by ORP/Osh proteins is driven by phosphatidylinositol 4-phosphate. Science, 2015, 349(6246): 432-436.
6. Lenardo M, Lo B, Lucas CL, et al. Genomics of immune diseases and new therapies. Annu Rev Immunol, 2016, 34(1): 121-149.
7. Schubert D, Bode C, Kenefeck R, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med, 2014, 20(12): 1410.
8. Schwab C, Gabrysch A, Olbrich P, et al. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects. J Allergy Clin Immun, 2018, 142(6): 1932-1946.
9. 中华医学会儿科学分会呼吸学组全国儿童弥漫性肺实质疾病/肺间质疾病协作组. 儿童肺间质疾病诊断程序专家共识. 中华儿科杂志, 2013, 51(2): 101-102.
10. Kurland G, Deterding RR, Hagood JS, et al. An official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy. Am J Respir Crit Care Med, 2013, 188: 376-394.
11. Serwas NK, Kansu A, Santos-Valente E, et al. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflamm Bowel Dis, 2015, 21(1): 40-47.
12. Bal SK, Haskologlu S, Serwas NK, et al. Multiple presentations of LRBA deficiency: a single-center experience. J Clin Immunol, 2017, 37(8): 790-800.
13. Schussler E, Beasley MB, Maglione PJ. Lung disease in primary antibody deficiencies. J Allergy Clin Immunol Pract, 2016, 4(6): 1039-1052.
14. Lo B, Zhang K, Lu W, et al. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science, 2015, 349(6246): 436-440.
15. Kiykim A, Ogulur I, Dursun E, et al. Abatacept as a long-term targeted therapy for LRBA deficiency. J Allergy Clin Immunol Pract, 2019, 7(8): 2790-2800.

Chinese Journal of Respiratory and Critical Care Medicine

LRBA 基因复合杂合突变致儿童弥漫性实质性肺疾病一例

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