The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Wilson disease
X-linked agammaglobulinemia
co-occurrence
immuno-SRM
newborn screening
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
12
12
2019
revised:
28
01
2020
accepted:
30
01
2020
pubmed:
19
2
2020
medline:
7
4
2021
entrez:
19
2
2020
Statut:
ppublish
Résumé
We report the first case of a family with co-occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X-linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marked reduction in circulating B lymphocytes and serum immunoglobulins. Through utilization of a multiplexed biomarker peptide quantification method known as the immuno-SRM assay, we were able to simultaneously and independently identify which family members are affected with WD and which are affected with XLA using dried blood spots (DBS). Being able to delineate multiple diagnoses using proteolytic analysis from a single DBS provides support for implementation of this methodology for clinical diagnostic use as well as large-scale population screening, such as newborn screening (NBS). This could allow for early identification and treatment of affected individuals with WD or XLA, which have been shown to reduce morbidity and decrease mortality in these two populations.
Sections du résumé
BACKGROUND
We report the first case of a family with co-occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X-linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marked reduction in circulating B lymphocytes and serum immunoglobulins.
METHODS AND RESULTS
Through utilization of a multiplexed biomarker peptide quantification method known as the immuno-SRM assay, we were able to simultaneously and independently identify which family members are affected with WD and which are affected with XLA using dried blood spots (DBS).
CONCLUSION
Being able to delineate multiple diagnoses using proteolytic analysis from a single DBS provides support for implementation of this methodology for clinical diagnostic use as well as large-scale population screening, such as newborn screening (NBS). This could allow for early identification and treatment of affected individuals with WD or XLA, which have been shown to reduce morbidity and decrease mortality in these two populations.
Identifiants
pubmed: 32067425
doi: 10.1002/mgg3.1172
pmc: PMC7196455
doi:
Substances chimiques
Biomarkers
0
Peptides
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1172Subventions
Organisme : NIAID NIH HHS
ID : R01 AI123135
Pays : United States
Organisme : NICHD NIH HHS
ID : R21 HD097558
Pays : United States
Informations de copyright
© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
Références
Semin Liver Dis. 2011 Aug;31(3):233-8
pubmed: 21901653
Clin Genet. 2005 Jul;68(1):61-8
pubmed: 15952988
Hum Mutat. 2004 Apr;23(4):398
pubmed: 15024742
Pediatr Clin North Am. 2019 Oct;66(5):913-923
pubmed: 31466681
J Biol Chem. 2012 Jan 20;287(4):2485-99
pubmed: 22130675
J Hepatol. 2009 Mar;50(3):555-61
pubmed: 19118915
Medicine (Baltimore). 2006 Jul;85(4):193-202
pubmed: 16862044
Eur J Med Genet. 2015 Feb;58(2):59-65
pubmed: 25497208
Immunol Rev. 2005 Feb;203:216-34
pubmed: 15661032
Front Pharmacol. 2012 Dec 13;3:201
pubmed: 23248597
World Allergy Organ J. 2019 Mar 22;12(3):100018
pubmed: 30937141
Clin Immunol. 2004 Jul;112(1):1-7
pubmed: 15207776
Am J Physiol Gastrointest Liver Physiol. 2011 Jul;301(1):G69-81
pubmed: 21454443
J Proteome Res. 2017 Feb 3;16(2):862-871
pubmed: 27935710
Clin Biochem Rev. 2019 May;40(2):59-77
pubmed: 31205375
Front Immunol. 2018 Feb 16;9:289
pubmed: 29503650
J Biol Chem. 2017 Nov 17;292(46):18760-18774
pubmed: 28842499
Clin Liver Dis. 2017 Nov;21(4):755-767
pubmed: 28987261
Front Immunol. 2018 Dec 04;9:2756
pubmed: 30564228
Gastroenterology. 2012 Apr;142(4):947-956.e5
pubmed: 22240481
Br J Haematol. 2001 Jul;114(1):141-9
pubmed: 11472359
Mol Genet Genomic Med. 2020 Apr;8(4):e1172
pubmed: 32067425
Brain. 2013 May;136(Pt 5):1476-87
pubmed: 23518715