دورية أكاديمية
Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: A case series and review of the literature
| العنوان: | Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: A case series and review of the literature |
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| المؤلفون: | Sasson, SC, Corbett, A, McLachlan, AJ, Chen, R, Adelstein, SA, Riminton, S, Limaye, S |
| المصدر: | urn:ISSN:1752-1947 ; Journal of Medical Case Reports, 13, 1, 338 |
| بيانات النشر: | Springer Nature |
| سنة النشر: | 2019 |
| المجموعة: | UNSW Sydney (The University of New South Wales): UNSWorks |
| مصطلحات موضوعية: | Rare Diseases, Myotonic Dystrophy, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Muscular Dystrophy, Adult, Agammaglobulinemia, Female, Genetic Predisposition to Disease, Humans, Immunocompromised Host, Immunoglobulin G, Immunoglobulins, Intravenous, Male, Middle Aged, Mothers, Nuclear Family, Case report, DM1, Hypogammaglobulinemia, IVIg, IgG, Intravenous immunoglobulin, Myotonic dystrophy type 1, anzsrc-for: 1199 Other Medical and Health Sciences |
| الوصف: | Background: Myotonic dystrophy type 1 is an autosomal dominant disorder characterized by muscle weakness, myotonia, cataracts, and cardiac conduction defects; it is associated with expansions of cytosine-thymine-guanine repeats in the myotonic dystrophy protein kinase. Hypogammaglobulinemia is a lesser known association of myotonic dystrophy type 1 and the underlying pathogenesis of immunoglobulin G depletion remains unclear. Case presentation: Here we report a kindred of two members (a 62-year-old white woman and a 30-year-old white man; mother and son) with myotonic dystrophy type 1-associated hypogammaglobulinemia associated with altered intravenous immunoglobulin elimination kinetics and reduced half-life. There was no history of systemic immunosuppression or renal or gastrointestinal protein loss in either patient, and no underlying case for a secondary immunodeficiency could be found. One patient required fortnightly intravenous immunoglobulin to maintain adequate trough immunoglobulin G levels. Conclusions: Ongoing study of myotonic dystrophy type 1-associated hypogammaglobulinemia using contemporary tools of genomic medicine may help to further delineate the pathogenesis of this entity. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| العلاقة: | http://hdl.handle.net/1959.4/unsworks_67548Test; https://unsworks.unsw.edu.au/bitstreams/f4b09f92-6bf8-4833-8c2d-25e567b0ab4a/downloadTest; https://doi.org/10.1186/s13256-019-2285-3Test |
| DOI: | 10.1186/s13256-019-2285-3 |
| الإتاحة: | https://doi.org/10.1186/s13256-019-2285-3Test http://hdl.handle.net/1959.4/unsworks_67548Test https://unsworks.unsw.edu.au/bitstreams/f4b09f92-6bf8-4833-8c2d-25e567b0ab4a/downloadTest |
| حقوق: | open access ; https://purl.org/coar/access_right/c_abf2Test ; CC BY ; https://creativecommons.org/licenses/by/4.0Test/ ; free_to_read |
| رقم الانضمام: | edsbas.B8632DD8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s13256-019-2285-3 |
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