{"title":"Front & Back Matter","authors":"","doi":"10.1159/000525363","DOIUrl":"https://doi.org/10.1159/000525363","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47171849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Z. Fei, Zhongsheng Chen, Xi Du, Haijun Cao, Changqing Li
Background: The outbreak of COVID-19 has resulted in more than 200 million infections and 4 million deaths. The blood derivative therapy represented by intravenous immunoglobulin (IVIG) and convalescent plasma (CP) therapy may be the promising therapeutics for COVID-19. Methods: A systematic article search was performed for eligible studies published up to August 3, 2021, through the PubMed, Embase, Cochrane Library. The included articles were screened by using rigorous inclusion and exclusion criteria. All analyses were conducted using Review Manager 5.4. Quality of studies and risk of bias were evaluated. Results: A total of 5 IVIG therapy and 13 CP therapy randomized controlled trials were included with a sample size of 13,696 subjects diagnosed with COVID-19. IVIG could reduce the mortality compared with the control group (RR 0.65, 95% CI: 0.46–0.93, p = 0.02). The use of CP did not effectively reduce the mortality (RR 0.97, 95% CI: 0.91–1.03, p = 0.38), the length of hospital stay (MD −0.47, 95% CI: −4.13 to 3.20, p = 0.80), and the mechanical ventilation use (RR = 0.98, 95% CI: 0.89–1.07, p = 0.62) of the patients with COVID-19. Treatment with IVIG or CP was not significantly associated with an increase in reported adverse events (RR 1.07, 95% CI: 0.94–1.22, p = 0.28). Conclusions: Treatment with IVIG could be effective and safe to improve survival for patients with COVID-19. But the benefit of CP in the treatment of COVID-19 is limited. The certainty of the evidence was moderate for all outcomes.
{"title":"Efficacy and Safety of Blood Derivative Therapy for Patients with COVID-19: A Systematic Review and Meta-Analysis","authors":"Z. Fei, Zhongsheng Chen, Xi Du, Haijun Cao, Changqing Li","doi":"10.1159/000524125","DOIUrl":"https://doi.org/10.1159/000524125","url":null,"abstract":"Background: The outbreak of COVID-19 has resulted in more than 200 million infections and 4 million deaths. The blood derivative therapy represented by intravenous immunoglobulin (IVIG) and convalescent plasma (CP) therapy may be the promising therapeutics for COVID-19. Methods: A systematic article search was performed for eligible studies published up to August 3, 2021, through the PubMed, Embase, Cochrane Library. The included articles were screened by using rigorous inclusion and exclusion criteria. All analyses were conducted using Review Manager 5.4. Quality of studies and risk of bias were evaluated. Results: A total of 5 IVIG therapy and 13 CP therapy randomized controlled trials were included with a sample size of 13,696 subjects diagnosed with COVID-19. IVIG could reduce the mortality compared with the control group (RR 0.65, 95% CI: 0.46–0.93, p = 0.02). The use of CP did not effectively reduce the mortality (RR 0.97, 95% CI: 0.91–1.03, p = 0.38), the length of hospital stay (MD −0.47, 95% CI: −4.13 to 3.20, p = 0.80), and the mechanical ventilation use (RR = 0.98, 95% CI: 0.89–1.07, p = 0.62) of the patients with COVID-19. Treatment with IVIG or CP was not significantly associated with an increase in reported adverse events (RR 1.07, 95% CI: 0.94–1.22, p = 0.28). Conclusions: Treatment with IVIG could be effective and safe to improve survival for patients with COVID-19. But the benefit of CP in the treatment of COVID-19 is limited. The certainty of the evidence was moderate for all outcomes.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"388 - 400"},"PeriodicalIF":2.2,"publicationDate":"2022-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41738203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-04-14eCollection Date: 2022-09-01DOI: 10.1159/000522528
Rainer Moog, Teija Laitinen, Uwe Taborski
Background and objectives: Although plasmapheresis is generally considered safe, there are still concerns about the long-term effects of plasma donation on immunoglobulin G (IgG) levels. The aim of the present study was to investigate if there is a need to permanently defer donors who donated three times with an IgG level below 6.0 g/L.
Study design and methods: From September 2007 to December 2017, adverse events (AEs) including infections were analysed from data of a prospective, controlled multicentre study of healthy volunteer donors, participating in an individualized plasmapheresis programme stratified by initial IgG level and body weight (individualized arm) or in standard plasmapheresis according to national guidelines (control arm). IgG was monitored at every fifth donation, and donors with IgG levels below the threshold were identified and followed up for possible AEs.
Results: In total, 97,540 donations in 1,462 donors in the control arm and 1,491,223 donations in 14,281 donors in the individualized arm were included. Donation-based incidences of at least severe AEs and any infections were 0.019% and 0.192% in the control arm, and 0.014% and 0.153% in the individualized arm. Three or more IgG-measurements below the threshold occurred in 38.2% of control arm donors and 20.9% of individualized arm donors. There were no increased incidence rates of at least severe AEs or any infections in donors with ≥3 IgG-measurements below the threshold in either donor's arm.
Conclusions: Our data show no signs of compromised donor safety in donors with ≥3 IgG-measurements below the threshold, indicating that plasmapheresis is feasible and safe in these donors.
{"title":"Safety of Plasmapheresis in Donors with Low IgG Levels: Results of a Prospective, Controlled Multicentre Study.","authors":"Rainer Moog, Teija Laitinen, Uwe Taborski","doi":"10.1159/000522528","DOIUrl":"https://doi.org/10.1159/000522528","url":null,"abstract":"<p><strong>Background and objectives: </strong>Although plasmapheresis is generally considered safe, there are still concerns about the long-term effects of plasma donation on immunoglobulin G (IgG) levels. The aim of the present study was to investigate if there is a need to permanently defer donors who donated three times with an IgG level below 6.0 g/L.</p><p><strong>Study design and methods: </strong>From September 2007 to December 2017, adverse events (AEs) including infections were analysed from data of a prospective, controlled multicentre study of healthy volunteer donors, participating in an individualized plasmapheresis programme stratified by initial IgG level and body weight (individualized arm) or in standard plasmapheresis according to national guidelines (control arm). IgG was monitored at every fifth donation, and donors with IgG levels below the threshold were identified and followed up for possible AEs.</p><p><strong>Results: </strong>In total, 97,540 donations in 1,462 donors in the control arm and 1,491,223 donations in 14,281 donors in the individualized arm were included. Donation-based incidences of at least severe AEs and any infections were 0.019% and 0.192% in the control arm, and 0.014% and 0.153% in the individualized arm. Three or more IgG-measurements below the threshold occurred in 38.2% of control arm donors and 20.9% of individualized arm donors. There were no increased incidence rates of at least severe AEs or any infections in donors with ≥3 IgG-measurements below the threshold in either donor's arm.</p><p><strong>Conclusions: </strong>Our data show no signs of compromised donor safety in donors with ≥3 IgG-measurements below the threshold, indicating that plasmapheresis is feasible and safe in these donors.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 5","pages":"271-279"},"PeriodicalIF":2.2,"publicationDate":"2022-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134649848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Thrombotische Mikroangiopathien (TMA) sind seltene, aber bisweilen akut lebensbedrohliche Erkrankungen. Wichtig ist deshalb eine frühe Diagnose als Voraussetzung für einen möglichst schnellen Therapiestart. Um einen fundierten Überblick über neueste Forschungsergebnisse und Entwicklungen in diesem Bereich zu geben und einen fachgruppenübergreifenden Erfahrungsaustausch zu ermöglichen, fand am 4. und 5. Februar 2021 das «2. Kölner TMA-Symposium» unter der wissenschaftlichen Leitung von Univ.-Prof. Dr. Paul Brinkkötter, Köln, statt. Bei TMA kommt es bedingt durch einen Schaden in den Kapillargefäßen zu einer Störung der Mikrozirkulation. Zu den TMA gehören neben verschiedenen Formen des hämolytisch-urämischen Syndroms (STECHUS und aHUS) auch die erworbene thrombotisch-thrombozytopenische Purpura (aTTP). Da prinzipiell jedes Organ von einer TMA befallen werden kann, häufig das zentrale Nervensystem, der Magen-Darm-Trakt und die Nieren, werden die Betroffenen oft bei Ärzt*innen verschiedener Fachdisziplinen vorstellig. Um möglichst schnell eine geeignete Therapie einleiten zu können, ist eine präzise Diagnose der genauen Art der TMA unerlässlich.
{"title":"PharmaNews","authors":"","doi":"10.1159/000524259","DOIUrl":"https://doi.org/10.1159/000524259","url":null,"abstract":"Thrombotische Mikroangiopathien (TMA) sind seltene, aber bisweilen akut lebensbedrohliche Erkrankungen. Wichtig ist deshalb eine frühe Diagnose als Voraussetzung für einen möglichst schnellen Therapiestart. Um einen fundierten Überblick über neueste Forschungsergebnisse und Entwicklungen in diesem Bereich zu geben und einen fachgruppenübergreifenden Erfahrungsaustausch zu ermöglichen, fand am 4. und 5. Februar 2021 das «2. Kölner TMA-Symposium» unter der wissenschaftlichen Leitung von Univ.-Prof. Dr. Paul Brinkkötter, Köln, statt. Bei TMA kommt es bedingt durch einen Schaden in den Kapillargefäßen zu einer Störung der Mikrozirkulation. Zu den TMA gehören neben verschiedenen Formen des hämolytisch-urämischen Syndroms (STECHUS und aHUS) auch die erworbene thrombotisch-thrombozytopenische Purpura (aTTP). Da prinzipiell jedes Organ von einer TMA befallen werden kann, häufig das zentrale Nervensystem, der Magen-Darm-Trakt und die Nieren, werden die Betroffenen oft bei Ärzt*innen verschiedener Fachdisziplinen vorstellig. Um möglichst schnell eine geeignete Therapie einleiten zu können, ist eine präzise Diagnose der genauen Art der TMA unerlässlich.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"126 - 126"},"PeriodicalIF":2.2,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45338425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
einreichung bis 2. Mai 2022 jt2022_Anz-CfA_A4_1-2022.indd 2 14.01.22 11:37 EA 22 02 4
提交最多2份。2022年5月jt2022_Anz-CfA_A4_1-2022.indd 2 14.01.22 11:37 EA 22 02 4
{"title":"Front & Back Matter","authors":"Gregor Bein","doi":"10.1159/000524440","DOIUrl":"https://doi.org/10.1159/000524440","url":null,"abstract":"einreichung bis 2. Mai 2022 jt2022_Anz-CfA_A4_1-2022.indd 2 14.01.22 11:37 EA 22 02 4","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44514185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Front & Back Matter","authors":"Gregor Bein","doi":"10.1159/000522356","DOIUrl":"https://doi.org/10.1159/000522356","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47723060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Die aktualisierte Fachinformation für den oralen Januskinase (JAK)-Inhibitor Ruxolitinib (Jakavi®) enthält detailliertere Dosierungsempfehlungen zur Behandlung von krankheitsbedingter Splenomegalie oder Symptomen bei Erwachsenen mit primärer Myelofibrose, Post-Polycythaemia-vera-Myelofibrose oder Post-essenzieller-Thrombozythämie-Myelofibrose. Diese beinhalten detailliertere Angaben zur Anfangsdosis des oralen JAK-Inhibitors in Abhängigkeit von der Thrombozytenzahl sowie zur Dosisanpassung bei Thrombozytopenie unter laufender Behandlung. Thrombozytopenien (Thrombozytenzahl < 150 000/μl im Blut) können bei der Myelofibrose als Folge der erkrankungsbedingten Splenomegalie, aber auch als Nebenwirkung der Therapie auftreten [1, 2]. Die Aktualisierung der Fachinformation basiert auf den Ergebnissen der PhaseIb-Studie EXPAND, die die Dosierung von Ruxolitinib bei Thrombozytenzahlen von 50 000–100 000 untersuchte [3, 4]. Die nun empfohlene Anfangsdosis von Ruxolitinib liegt zwischen 5 und 20 mg 2-mal täglich (bid) und richtet sich nach der Thrombozytenzahl bei Behandlungsbeginn [1].* Tritt später im Behandlungsverlauf eine Thrombozytopenie auf, soll die Dosis in Abhängigkeit von der Thrombozytenzahl und der Dosis zum Zeitpunkt des Thrombozytenabfalls differenziert angepasst werden [1]. Bei Thrombozytenzahlen < 50 × 109/l muss die Therapie pausiert werden – unabhängig von der Ausgangsdosis [1].
{"title":"PharmaNews","authors":"","doi":"10.1159/000522076","DOIUrl":"https://doi.org/10.1159/000522076","url":null,"abstract":"Die aktualisierte Fachinformation für den oralen Januskinase (JAK)-Inhibitor Ruxolitinib (Jakavi®) enthält detailliertere Dosierungsempfehlungen zur Behandlung von krankheitsbedingter Splenomegalie oder Symptomen bei Erwachsenen mit primärer Myelofibrose, Post-Polycythaemia-vera-Myelofibrose oder Post-essenzieller-Thrombozythämie-Myelofibrose. Diese beinhalten detailliertere Angaben zur Anfangsdosis des oralen JAK-Inhibitors in Abhängigkeit von der Thrombozytenzahl sowie zur Dosisanpassung bei Thrombozytopenie unter laufender Behandlung. Thrombozytopenien (Thrombozytenzahl < 150 000/μl im Blut) können bei der Myelofibrose als Folge der erkrankungsbedingten Splenomegalie, aber auch als Nebenwirkung der Therapie auftreten [1, 2]. Die Aktualisierung der Fachinformation basiert auf den Ergebnissen der PhaseIb-Studie EXPAND, die die Dosierung von Ruxolitinib bei Thrombozytenzahlen von 50 000–100 000 untersuchte [3, 4]. Die nun empfohlene Anfangsdosis von Ruxolitinib liegt zwischen 5 und 20 mg 2-mal täglich (bid) und richtet sich nach der Thrombozytenzahl bei Behandlungsbeginn [1].* Tritt später im Behandlungsverlauf eine Thrombozytopenie auf, soll die Dosis in Abhängigkeit von der Thrombozytenzahl und der Dosis zum Zeitpunkt des Thrombozytenabfalls differenziert angepasst werden [1]. Bei Thrombozytenzahlen < 50 × 109/l muss die Therapie pausiert werden – unabhängig von der Ausgangsdosis [1].","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"65 - 66"},"PeriodicalIF":2.2,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45177553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: McLeod syndrome (MLS) is an X-linked multisystemic progressive disorder caused by loss of function mutations in the XK gene. The rare blood group phenotype of MLS patients with absent Kx antigen requires the support of specialized transfusion institutions because of the risk of transfusion complications. Acanthocytosis of red blood cells occurs in almost all patients. Nonhematological manifestations of MLS are very similar to those of VPS13A disease (chorea-acanthocytosis), an autosomal-recessive condition. Their shared phenotype apart from acanthocytosis includes movement disorders such as chorea and dystonia, epilepsy, peripheral neuropathy, and muscle involvement, typically with creatine kinase (CK) elevation, cardiomyopathy included. Summary: In this review, we describe the nonhematological manifestations of MLS in comparison with those of VPS13A disease. While there are many similarities, differences such as mode of inheritance, sex distribution, age at manifestation, severity of heart involvement, frequency of feeding dystonia or of involuntary head drops may help to distinguish these disorders in the clinic. Immunohematological demonstration of the McLeod-Kell phenotype or detection of pathogenic mutations of XK (or VPS13A, respectively) is the gold standard for distinction. “Neuroacanthocytosis” was often used as an overarching term, but is potentially misleading, as the term does not refer to a defined disease entity. Its use, if continued, must not prevent clinicians to seek a final diagnosis on the basis of molecular findings. The clinical similarity of MLS and VPS13A disease has long suggested some shared pathophysiology. Evidence for molecular interaction between XK, the McLeod protein, and chorein, the VPS13A gene product, has recently been put forward: XK forms a complex with chorein/VPS13A, a bulk lipid transporter located at various membrane contact sites. The exact role of XK in this complex needs to be further elucidated. Impairment of bulk lipid transport appears as the common denominator of both MLS and VPS13A disease. A variety of further conditions may in time be added to the “bulk lipid transport diseases,” such as the recently recognized disorders caused by mutations in the VPS13B, VPS13C, and VPS13D genes. Key Messages: (1) Patients diagnosed with the rare red cell McLeod phenotype (McLeod syndrome, MLS) require interdisciplinary collaboration of transfusion medicine specialists, neurologists, and cardiologists for both their hematological and nonhematological disease manifestations. (2) The phenotypical similarity of MLS and VPS13A disease, often leading to either confusion or insufficient diagnostic depth (under the label of “neuroacanthocytosis”), is based on interaction of the respective proteins, XK and chorein, within the cellular machinery for bulk lipid transport. (3) Overall, the term “bulk lipid transport diseases” seems useful for further research on a group of conditions that may not only share pa
{"title":"XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease","authors":"K. Peikert, A. Hermann, A. Danek","doi":"10.1159/000521417","DOIUrl":"https://doi.org/10.1159/000521417","url":null,"abstract":"Background: McLeod syndrome (MLS) is an X-linked multisystemic progressive disorder caused by loss of function mutations in the XK gene. The rare blood group phenotype of MLS patients with absent Kx antigen requires the support of specialized transfusion institutions because of the risk of transfusion complications. Acanthocytosis of red blood cells occurs in almost all patients. Nonhematological manifestations of MLS are very similar to those of VPS13A disease (chorea-acanthocytosis), an autosomal-recessive condition. Their shared phenotype apart from acanthocytosis includes movement disorders such as chorea and dystonia, epilepsy, peripheral neuropathy, and muscle involvement, typically with creatine kinase (CK) elevation, cardiomyopathy included. Summary: In this review, we describe the nonhematological manifestations of MLS in comparison with those of VPS13A disease. While there are many similarities, differences such as mode of inheritance, sex distribution, age at manifestation, severity of heart involvement, frequency of feeding dystonia or of involuntary head drops may help to distinguish these disorders in the clinic. Immunohematological demonstration of the McLeod-Kell phenotype or detection of pathogenic mutations of XK (or VPS13A, respectively) is the gold standard for distinction. “Neuroacanthocytosis” was often used as an overarching term, but is potentially misleading, as the term does not refer to a defined disease entity. Its use, if continued, must not prevent clinicians to seek a final diagnosis on the basis of molecular findings. The clinical similarity of MLS and VPS13A disease has long suggested some shared pathophysiology. Evidence for molecular interaction between XK, the McLeod protein, and chorein, the VPS13A gene product, has recently been put forward: XK forms a complex with chorein/VPS13A, a bulk lipid transporter located at various membrane contact sites. The exact role of XK in this complex needs to be further elucidated. Impairment of bulk lipid transport appears as the common denominator of both MLS and VPS13A disease. A variety of further conditions may in time be added to the “bulk lipid transport diseases,” such as the recently recognized disorders caused by mutations in the VPS13B, VPS13C, and VPS13D genes. Key Messages: (1) Patients diagnosed with the rare red cell McLeod phenotype (McLeod syndrome, MLS) require interdisciplinary collaboration of transfusion medicine specialists, neurologists, and cardiologists for both their hematological and nonhematological disease manifestations. (2) The phenotypical similarity of MLS and VPS13A disease, often leading to either confusion or insufficient diagnostic depth (under the label of “neuroacanthocytosis”), is based on interaction of the respective proteins, XK and chorein, within the cellular machinery for bulk lipid transport. (3) Overall, the term “bulk lipid transport diseases” seems useful for further research on a group of conditions that may not only share pa","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"4 - 12"},"PeriodicalIF":2.2,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44805942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
In 2014, the membrane-bound protein CD59 became a blood group antigen. CD59 has been known for decades as an inhibitor of the complement system, located on erythrocytes and on many other cell types. In paroxysmal nocturnal haemoglobinuria (PNH), a stem cell clone with acquired deficiency to express GPI-anchored molecules, including the complement inhibitor CD59, causes severe and life-threatening disease. The lack of CD59, which is the only membrane-bound inhibitor of the membrane attack complex, contributes a major part of the intravascular haemolysis observed in PNH patients. This crucial effect of CD59 in PNH disease prompted studies to investigate its role in other diseases. In this review, the role of CD59 in inflammation, rheumatic disease, and age-related macular degeneration is investigated. Further, the pivotal role of CD59 in PNH and congenital CD59 deficiency is reviewed.
{"title":"Association of Blood Group Antigen CD59 with Disease","authors":"C. Weinstock","doi":"10.1159/000521174","DOIUrl":"https://doi.org/10.1159/000521174","url":null,"abstract":"In 2014, the membrane-bound protein CD59 became a blood group antigen. CD59 has been known for decades as an inhibitor of the complement system, located on erythrocytes and on many other cell types. In paroxysmal nocturnal haemoglobinuria (PNH), a stem cell clone with acquired deficiency to express GPI-anchored molecules, including the complement inhibitor CD59, causes severe and life-threatening disease. The lack of CD59, which is the only membrane-bound inhibitor of the membrane attack complex, contributes a major part of the intravascular haemolysis observed in PNH patients. This crucial effect of CD59 in PNH disease prompted studies to investigate its role in other diseases. In this review, the role of CD59 in inflammation, rheumatic disease, and age-related macular degeneration is investigated. Further, the pivotal role of CD59 in PNH and congenital CD59 deficiency is reviewed.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"13 - 24"},"PeriodicalIF":2.2,"publicationDate":"2022-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45080214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Augustine (AUG) is a blood group system comprising four antigens: AUG1, AUG2 (Ata), and AUG4 are of very high frequency; AUG3 is of very low frequency. These antigens are located on ENT1, an equilibrative nucleoside transporter encoded by SLC19A1. AUG antibodies are of clinical relevance in blood transfusion and pregnancy: anti-AUG2 have caused haemolytic transfusion reactions; the only anti-AUG3 was associated with severe haemolytic disease of the fetus and newborn. ENT1 is present in almost all human tissues. It facilitates the transfer of purine and pyrimidine nucleosides and is responsible for the majority of adenosine transport across plasma membranes. Adenosine transport appears to be an important factor in the regulation of bone metabolism. The AUGnull phenotype (AUG:–1,–2,–3,–4) has been found in three siblings, who are homozygous for an inactivating splice-site mutation in SLC29A1. Although ENT1 is very likely to be absent from all cells in these three individuals, they were apparently healthy with normal lifestyles. However, they suffered frequent attacks of pseudogout, a form of arthritis, in various joints with multiple calcifications around their hand joints. Ectopic calcification in the hips, pubic symphysis, and lumbar discs was present in the propositus. The three AUGnull individuals had misshapen red cells with deregulated protein phosphorylation, but no anaemia or shortening of red cell lifespan. Defective in vitro erythropoiesis in the absence of ENT1 was confirmed by shRNA-mediated knockdown of ENT1 during in vitro erythropoiesis of CD34+ progenitor cells from individuals with normal ENT1. Nucleoside transporters, such as ENT1, are vital in the uptake of synthetic nucleoside analogue drugs, used in cancer and viral chemotherapy. It is feasible that the efficacy of these drugs would be compromised in patients with the extremely rare AUGnull phenotype.
{"title":"Augustine Blood Group System and Equilibrative Nucleoside Transporter 1","authors":"G. Daniels","doi":"10.1159/000520596","DOIUrl":"https://doi.org/10.1159/000520596","url":null,"abstract":"Augustine (AUG) is a blood group system comprising four antigens: AUG1, AUG2 (Ata), and AUG4 are of very high frequency; AUG3 is of very low frequency. These antigens are located on ENT1, an equilibrative nucleoside transporter encoded by SLC19A1. AUG antibodies are of clinical relevance in blood transfusion and pregnancy: anti-AUG2 have caused haemolytic transfusion reactions; the only anti-AUG3 was associated with severe haemolytic disease of the fetus and newborn. ENT1 is present in almost all human tissues. It facilitates the transfer of purine and pyrimidine nucleosides and is responsible for the majority of adenosine transport across plasma membranes. Adenosine transport appears to be an important factor in the regulation of bone metabolism. The AUGnull phenotype (AUG:–1,–2,–3,–4) has been found in three siblings, who are homozygous for an inactivating splice-site mutation in SLC29A1. Although ENT1 is very likely to be absent from all cells in these three individuals, they were apparently healthy with normal lifestyles. However, they suffered frequent attacks of pseudogout, a form of arthritis, in various joints with multiple calcifications around their hand joints. Ectopic calcification in the hips, pubic symphysis, and lumbar discs was present in the propositus. The three AUGnull individuals had misshapen red cells with deregulated protein phosphorylation, but no anaemia or shortening of red cell lifespan. Defective in vitro erythropoiesis in the absence of ENT1 was confirmed by shRNA-mediated knockdown of ENT1 during in vitro erythropoiesis of CD34+ progenitor cells from individuals with normal ENT1. Nucleoside transporters, such as ENT1, are vital in the uptake of synthetic nucleoside analogue drugs, used in cancer and viral chemotherapy. It is feasible that the efficacy of these drugs would be compromised in patients with the extremely rare AUGnull phenotype.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"49 1","pages":"25 - 29"},"PeriodicalIF":2.2,"publicationDate":"2021-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42983864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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