Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature
<p><strong>BACKGROUND:</strong> 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...
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
BioMed Central
2019
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| _version_ | 1797057235479691264 |
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| author | Sasson, SC Corbett, A McLachlan, AJ Chen, R Adelstein, SA Riminton, S Limaye, S |
| author_facet | Sasson, SC Corbett, A McLachlan, AJ Chen, R Adelstein, SA Riminton, S Limaye, S |
| author_sort | Sasson, SC |
| collection | OXFORD |
| description | <p><strong>BACKGROUND:</strong> 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.</p> <p><strong>CASE PRESENTATION:</strong> 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.</p> <p><strong>CONCLUSIONS:</strong> 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.</p> |
| first_indexed | 2024-03-06T19:33:24Z |
| format | Journal article |
| id | oxford-uuid:1e3baef0-994a-4acc-9fc8-de343b075063 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:33:24Z |
| publishDate | 2019 |
| publisher | BioMed Central |
| record_format | dspace |
| spelling | oxford-uuid:1e3baef0-994a-4acc-9fc8-de343b0750632022-03-26T11:15:10ZEnhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literatureJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:1e3baef0-994a-4acc-9fc8-de343b075063EnglishSymplectic Elements at OxfordBioMed Central2019Sasson, SCCorbett, AMcLachlan, AJChen, RAdelstein, SARiminton, SLimaye, S<p><strong>BACKGROUND:</strong> 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.</p> <p><strong>CASE PRESENTATION:</strong> 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.</p> <p><strong>CONCLUSIONS:</strong> 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.</p> |
| spellingShingle | Sasson, SC Corbett, A McLachlan, AJ Chen, R Adelstein, SA Riminton, S Limaye, S Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature |
| title | Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature |
| title_full | Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature |
| title_fullStr | Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature |
| title_full_unstemmed | Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature |
| title_short | Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature |
| title_sort | enhanced serum immunoglobulin g clearance in myotonic dystrophy associated hypogammaglobulinemia a case series and review of the literature |
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