Shadi El‐Wahsh, Katrina Morris, Sandhya Limaye, Sean Riminton, Alastair Corbett, James D. Triplett
{"title":"低丙种球蛋白血症与 1 型肌营养不良症的感染风险","authors":"Shadi El‐Wahsh, Katrina Morris, Sandhya Limaye, Sean Riminton, Alastair Corbett, James D. Triplett","doi":"10.1002/mus.28247","DOIUrl":null,"url":null,"abstract":"Introduction/AimsHypogammaglobulinemia is a common yet under‐recognized feature of myotonic dystrophy type 1 (DM1). The aims of our study were to determine the frequency of immunoglobulin G (IgG) deficiency in our cohort, to examine the association between immunoglobulin levels and cytosine–thymine–guanine (CTG) repeat length in the <jats:italic>DMPK</jats:italic> gene, and to assess whether IgG levels are associated with an increased risk of infection in DM1 patients.MethodsWe conducted a single‐center, retrospective cross‐sectional study of 65 adult patients with DM1 who presented to the Neuromuscular Clinic at Concord Repatriation General Hospital, Sydney, Australia, between January 2002 and January 2022. We systematically collected and analyzed clinical, laboratory, and genetic data for all patients with available serum electrophoresis and/or IgG level results.ResultsForty‐one percent of DM1 patients had IgG deficiency despite normal lymphocyte counts, IgA, IgM, and albumin levels. There was an association between CTG repeat expansion size and the degree of IgG deficiency (<jats:italic>F</jats:italic> = 6.3, <jats:italic>p</jats:italic> = .02). There was no association between IgG deficiency and frequency of infection in this group (<jats:italic>p</jats:italic> = .428).DiscussionIgG deficiency is a frequent occurrence in DM1 patients and is associated with CTG repeat expansion size. Whether hypogammaglobulinemia is associated with increased infection risk in DM1 is unclear. A prospective multicenter cohort study is needed to evaluate this.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8000,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hypogammaglobulinemia and infection risk in myotonic dystrophy type 1\",\"authors\":\"Shadi El‐Wahsh, Katrina Morris, Sandhya Limaye, Sean Riminton, Alastair Corbett, James D. Triplett\",\"doi\":\"10.1002/mus.28247\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Introduction/AimsHypogammaglobulinemia is a common yet under‐recognized feature of myotonic dystrophy type 1 (DM1). The aims of our study were to determine the frequency of immunoglobulin G (IgG) deficiency in our cohort, to examine the association between immunoglobulin levels and cytosine–thymine–guanine (CTG) repeat length in the <jats:italic>DMPK</jats:italic> gene, and to assess whether IgG levels are associated with an increased risk of infection in DM1 patients.MethodsWe conducted a single‐center, retrospective cross‐sectional study of 65 adult patients with DM1 who presented to the Neuromuscular Clinic at Concord Repatriation General Hospital, Sydney, Australia, between January 2002 and January 2022. We systematically collected and analyzed clinical, laboratory, and genetic data for all patients with available serum electrophoresis and/or IgG level results.ResultsForty‐one percent of DM1 patients had IgG deficiency despite normal lymphocyte counts, IgA, IgM, and albumin levels. There was an association between CTG repeat expansion size and the degree of IgG deficiency (<jats:italic>F</jats:italic> = 6.3, <jats:italic>p</jats:italic> = .02). There was no association between IgG deficiency and frequency of infection in this group (<jats:italic>p</jats:italic> = .428).DiscussionIgG deficiency is a frequent occurrence in DM1 patients and is associated with CTG repeat expansion size. Whether hypogammaglobulinemia is associated with increased infection risk in DM1 is unclear. A prospective multicenter cohort study is needed to evaluate this.\",\"PeriodicalId\":18968,\"journal\":{\"name\":\"Muscle & Nerve\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-09-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Muscle & Nerve\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mus.28247\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Muscle & Nerve","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mus.28247","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Hypogammaglobulinemia and infection risk in myotonic dystrophy type 1
Introduction/AimsHypogammaglobulinemia is a common yet under‐recognized feature of myotonic dystrophy type 1 (DM1). The aims of our study were to determine the frequency of immunoglobulin G (IgG) deficiency in our cohort, to examine the association between immunoglobulin levels and cytosine–thymine–guanine (CTG) repeat length in the DMPK gene, and to assess whether IgG levels are associated with an increased risk of infection in DM1 patients.MethodsWe conducted a single‐center, retrospective cross‐sectional study of 65 adult patients with DM1 who presented to the Neuromuscular Clinic at Concord Repatriation General Hospital, Sydney, Australia, between January 2002 and January 2022. We systematically collected and analyzed clinical, laboratory, and genetic data for all patients with available serum electrophoresis and/or IgG level results.ResultsForty‐one percent of DM1 patients had IgG deficiency despite normal lymphocyte counts, IgA, IgM, and albumin levels. There was an association between CTG repeat expansion size and the degree of IgG deficiency (F = 6.3, p = .02). There was no association between IgG deficiency and frequency of infection in this group (p = .428).DiscussionIgG deficiency is a frequent occurrence in DM1 patients and is associated with CTG repeat expansion size. Whether hypogammaglobulinemia is associated with increased infection risk in DM1 is unclear. A prospective multicenter cohort study is needed to evaluate this.
期刊介绍:
Muscle & Nerve is an international and interdisciplinary publication of original contributions, in both health and disease, concerning studies of the muscle, the neuromuscular junction, the peripheral motor, sensory and autonomic neurons, and the central nervous system where the behavior of the peripheral nervous system is clarified. Appearing monthly, Muscle & Nerve publishes clinical studies and clinically relevant research reports in the fields of anatomy, biochemistry, cell biology, electrophysiology and electrodiagnosis, epidemiology, genetics, immunology, pathology, pharmacology, physiology, toxicology, and virology. The Journal welcomes articles and reports on basic clinical electrophysiology and electrodiagnosis. We expedite some papers dealing with timely topics to keep up with the fast-moving pace of science, based on the referees'' recommendation.