自身免疫性淋巴组织增生综合征患者淋巴细胞内结合钴胺素升高导致维生素 B₁₂ 水平升高。
Elevated vitamin B₁₂ levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes.
机构信息
Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
出版信息
Clin Biochem. 2012 Apr;45(6):490-2. doi: 10.1016/j.clinbiochem.2012.01.016. Epub 2012 Jan 28.
Abstract
OBJECTIVE
Identify the etiology of elevated B(12) in autoimmune lymphoproliferative syndrome (ALPS).
DESIGN
Peripheral blood of ALPS patients with elevated B(12) and controls were evaluated.
RESULTS
Total and holo-haptocorrin (HC) levels were 26- and 23-fold higher in ALPS patients, respectively. No abnormal B(12)-binding proteins were found. Western blot revealed HC in lymphocyte lysates only from ALPS patients.
CONCLUSION
Elevated concentrations of B(12) found in ALPS patients were due to increased lymphocyte expression of HC.
摘要
目的
确定自身免疫性淋巴组织增生综合征（ALPS）中 B（12）升高的病因。
设计
评估 ALPS 患者和对照者的外周血。
结果
ALPS 患者的总结合钴胺素和全钴胺素（HC）水平分别升高了 26 倍和 23 倍。未发现异常的 B（12）结合蛋白。Western blot 仅显示来自 ALPS 患者的淋巴细胞裂解物中存在 HC。
结论
在 ALPS 患者中发现的 B（12）浓度升高是由于淋巴细胞 HC 表达增加所致。
相似文献
1
Elevated vitamin B₁₂ levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes.
Clin Biochem. 2012 Apr;45(6):490-2. doi: 10.1016/j.clinbiochem.2012.01.016. Epub 2012 Jan 28.
2
Vitamin B₁₂ and its binding proteins in hepatocellular carcinoma and chronic liver diseases.
Scand J Gastroenterol. 2014 Sep;49(9):1096-102. doi: 10.3109/00365521.2014.921325. Epub 2014 Jun 24.
3
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.
Blood. 2010 Jun 24;115(25):5164-9. doi: 10.1182/blood-2010-01-263145. Epub 2010 Apr 1.
4
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
Rheumatology (Oxford). 2022 Feb 2;61(2):696-704. doi: 10.1093/rheumatology/keab361.
5
Circulating folate, vitamin B12, homocysteine, vitamin B12 transport proteins, and risk of prostate cancer: a case-control study, systematic review, and meta-analysis.
Cancer Epidemiol Biomarkers Prev. 2010 Jun;19(6):1632-42. doi: 10.1158/1055-9965.EPI-10-0180. Epub 2010 May 25.
6
The cobalamin-binding proteins transcobalamin and haptocorrin in maternal and cord blood sera at birth.
Clin Chem. 2006 Feb;52(2):263-9. doi: 10.1373/clinchem.2005.057810. Epub 2005 Dec 29.
7
Cobalamin binding proteins in patients with HIV infection.
Eur J Haematol. 1992 Apr;48(4):228-31. doi: 10.1111/j.1600-0609.1992.tb01590.x.
8
IgG4-related disease in autoimmune lymphoproliferative syndrome.
Clin Immunol. 2017 Jul;180:97-99. doi: 10.1016/j.clim.2017.05.003. Epub 2017 May 3.
9
Looking for ALPS: The value of a combined assessment of biochemical markers.
Pediatr Allergy Immunol. 2024 May;35(5):e14135. doi: 10.1111/pai.14135.
10
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.
Hum Mol Genet. 2017 Dec 15;26(24):4975-4988. doi: 10.1093/hmg/ddx369.
引用本文的文献
1
Frequency of comorbid diseases with high serum Vitamin B12 levels in patients attending King Salman Medical City (KSAMC), at Madinah.
Int J Health Sci (Qassim). 2025 Jan-Feb;19(1):15-21.
2
Beyond FAScinating: advances in diagnosis and management of autoimmune lymphoproliferative syndrome and activated PI3 kinase δ syndrome.
Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):126-136. doi: 10.1182/hematology.2024000537.
3
Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation.
Mol Cell Pediatr. 2023 Sep 13;10(1):11. doi: 10.1186/s40348-023-00167-1.
4
Genes and Microbiota Interaction in Monogenic Autoimmune Disorders.
Biomedicines. 2023 Apr 8;11(4):1127. doi: 10.3390/biomedicines11041127.
5
[Autoimmune lymphoproliferative syndrome: a case report].
Pan Afr Med J. 2022 Oct 7;43:61. doi: 10.11604/pamj.2022.43.61.33009. eCollection 2022.
6
Autoimmunity in Primary Immunodeficiencies (PID).
Clin Rev Allergy Immunol. 2023 Aug;65(1):1-18. doi: 10.1007/s12016-022-08942-0. Epub 2022 Jun 1.
7
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.
Ann Hematol. 2022 Mar;101(3):469-484. doi: 10.1007/s00277-022-04761-7. Epub 2022 Jan 20.
8
The genetic landscape of the FAS pathway deficiencies.
Biomed J. 2021 Aug;44(4):388-399. doi: 10.1016/j.bj.2021.06.005. Epub 2021 Jun 24.
9
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation.
Front Immunol. 2019 Jan 14;9:2767. doi: 10.3389/fimmu.2018.02767. eCollection 2018.
10
Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.
Front Mol Biosci. 2016 Jun 27;3:27. doi: 10.3389/fmolb.2016.00027. eCollection 2016.
本文引用的文献
1
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.
Blood. 2010 Oct 7;116(14):e35-40. doi: 10.1182/blood-2010-04-280347. Epub 2010 Jun 10.
2
Metabolic evidence of vitamin B-12 deficiency, including high homocysteine and methylmalonic acid and low holotranscobalamin, is more pronounced in older adults with elevated plasma folate.
Am J Clin Nutr. 2009 Dec;90(6):1586-92. doi: 10.3945/ajcn.2009.27514. Epub 2009 Sep 2.
3
Significance of elevated cobalamin (vitamin B12) levels in blood.
Clin Biochem. 2003 Nov;36(8):585-90. doi: 10.1016/j.clinbiochem.2003.08.004.
4
High serum cobalamin levels in the clinical setting--clinical associations and holo-transcobalamin changes.
Clin Lab Haematol. 2001 Dec;23(6):365-71. doi: 10.1046/j.1365-2257.2001.00134.x.
5
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.
Blood. 2001 Jul 1;98(1):194-200. doi: 10.1182/blood.v98.1.194.
6
Measurement of transcobalamin by ELISA.
Clin Chem. 2000 Oct;46(10):1643-9.
7
8
Cobalamin.
Crit Rev Clin Lab Sci. 1996;33(4):247-356. doi: 10.3109/10408369609081009.
9
Antibody to transcobalamin II and B12 binding capacity in patients treated with hydroxocobalamin.
Blood. 1971 Dec;38(6):769-74.
10
Transcobalamins I and II as natural transport proteins of vitamin B12.
J Clin Invest. 1975 Nov;56(5):1125-31. doi: 10.1172/JCI108187.
Zotero 插件