Blood Cells Molecules and Diseases最新文献

{"title":"Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies","authors":"Sean X. Gu ,&nbsp;Ayesha Butt ,&nbsp;Vincent P. Schulz ,&nbsp;Henry M. Rinder ,&nbsp;Alfred I. Lee ,&nbsp;Patrick G. Gallagher ,&nbsp;John Hwa ,&nbsp;Robert D. Bona","doi":"10.1016/j.bcmd.2024.102893","DOIUrl":"10.1016/j.bcmd.2024.102893","url":null,"abstract":"<div><p>Inherited platelet disorders (IPDs) are a heterogeneous group of conditions that present significant challenges in diagnosis and management. Here, we report two cases of patients presenting with clinically significant bleeding but with unclear etiologies by conventional clinical laboratory testing. Further evaluation, utilizing a combination of high-dimensional multiplexed mass cytometry and genetic sequencing, revealed the underlying causes of bleeding in both cases, leading to definitive diagnoses. These cases underscore the potential utility of combined multimodal approaches in evaluating patients with bleeding disorders. Moreover, these high-parameter methods can offer substantial mechanistic insights and can enhance our understanding of the molecular pathogenesis of IPDs. Future studies involving larger patient cohorts are needed to further validate this strategy, directly comparing its diagnostic yield and accuracy with current clinical laboratory testing approaches, which can ultimately improve patient care.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"110 ","pages":"Article 102893"},"PeriodicalIF":2.1,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163317","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":"Corrigendum to “Outpatient ATG-free hematopoietic transplantation for severe aplastic anemia in limited-resource environments offers excellent results: Data from a single LATAM center” [Blood Cells, Mol. Dis. 109 (2024) 102885]","authors":"José Carlos Jaime-Pérez,&nbsp;Mariana González-Treviño,&nbsp;Andrés Gómez-De León,&nbsp;Miguel A. Campos-Bocardo,&nbsp;Renata V. Barragán-Longoria,&nbsp;Olga Graciela Cantú-Rodríguez,&nbsp;César Homero Gutiérrez-Aguirre,&nbsp;David Gómez-Almaguer","doi":"10.1016/j.bcmd.2024.102886","DOIUrl":"10.1016/j.bcmd.2024.102886","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"110 ","pages":"Article 102886"},"PeriodicalIF":2.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1079979624000640/pdfft?md5=52e69c13f2e3990cdf5b98e200a3ecce&pid=1-s2.0-S1079979624000640-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142145049","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}

{"title":"Outpatient ATG-free hematopoietic transplantation for aplastic anemia in limited-resource environments offers excellent results: Data from a single LATAM center","authors":"José Carlos Jaime-Pérez,&nbsp;Mariana González-Treviño,&nbsp;Andrés Gómez-De León,&nbsp;Miguel A. Campos-Bocardo,&nbsp;Renata V. Barragán-Longoria,&nbsp;Olga Graciela Cantú-Rodríguez,&nbsp;César Homero Gutiérrez-Aguirre,&nbsp;David Gómez-Almaguer","doi":"10.1016/j.bcmd.2024.102885","DOIUrl":"10.1016/j.bcmd.2024.102885","url":null,"abstract":"<div><h3>Objective</h3><p>To document the results of outpatient hematopoietic stem cell transplantation (HSCT) from the peripheral blood (PB) of sibling donors without anti-thymocyte globulin (ATG) in the conditioning regimen.</p></div><div><h3>Material and methods</h3><p>Patients from a low-income population with severe AA who received a PB, unmanipulated sibling HLA-identical HSCT between 2000 and 2020 at a single institution were studied. Survival was the primary outcome.</p></div><div><h3>Results</h3><p>Forty-one transplants were performed. Time between diagnosis and transplant was five months (1–104). Median age was 37 (range, 4–61) years; 25 (61 %) recipients were males and 32 (78 %) had treatment failure, 9 (22 %) have not received treatment. ATG was administered in 5 (12.2 %) cases; the graft source was PB in 38 (92.7 %) transplants. Twenty-six (63.4 %) transplants were carried out in the outpatient setting. Infections developed in 14 (34.1 %) patients. Primary graft failure (GF) occurred in 3 (7.3 %) patients. The 15-year OS was 81 %, EFS was 77.4 %. Patients with high pre-HSCT transfusion burden had lower OS (<em>p</em> = 0.035) and EFS (<em>p</em> = 0.026). Previous treatment failure and age were not associated with lower OS (<em>p</em> = 0.115, <em>p</em> = 0.069) or EFS (<em>p</em> = 0.088, <em>p</em> = 0.5, respectively).</p></div><div><h3>Conclusions</h3><p>HLA-identical T-cell replete outpatient HSCT from the PB of sibling donors for AA patients using ATG-free conditioning offers excellent long-term survival.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102885"},"PeriodicalIF":2.1,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142049734","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":"Red cell distribution width as a bellwether of prognosis","authors":"Marshall A. Lichtman","doi":"10.1016/j.bcmd.2024.102884","DOIUrl":"10.1016/j.bcmd.2024.102884","url":null,"abstract":"<div><p>The red cell distribution width (RDW) is a standard variable reported in the complete blood count. It has been found to have a consistent relationship to life expectancy in older individuals, prognosis in patients with cardiovascular disease, outcome in those with hematological and non-hematological neoplasms and in a variety of medical circumstances such as non-cardiovascular or cancer related critical illness and postoperative outcome from various procedures. This report reviews some of the key medical publications establishing these relationships with RDW. The precise pathobiological processes that explain the predictive value of the RDW in this wide array of circumstances or why an alteration in erythropoiesis (exaggerated red cell size variation) occurs is uncertain. The possible role of inflammation has been one hypothesis considered, but not established.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102884"},"PeriodicalIF":2.1,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142012225","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":"Clinical characteristics, laboratory features and genetic profile of hemoglobin E (HBB:c.79 G > A)/β (nucleotide -28 A > G) (HBB:c.-78 A > G) -thalassemia subjects identified from community- and hospital-recruited cohorts","authors":"Piyatida Chumnumsiriwath,&nbsp;Prissana Charoenporn,&nbsp;Sawichayaporn Jermnim,&nbsp;Pawanrat Suannum,&nbsp;Monthira Samaisombat,&nbsp;Akamon Tapprom,&nbsp;Rawisut Deoisares,&nbsp;Peerapon Wong","doi":"10.1016/j.bcmd.2024.102883","DOIUrl":"10.1016/j.bcmd.2024.102883","url":null,"abstract":"<div><p>Despite several existing laboratory-based studies of hemoglobin (Hb) E (HBB:c.79 G &gt; A)/ β (nucleotide (NT) -28 A &gt; G) (HBB:c.-78 A &gt; G) -thalassemia, no reports have ever provided clinical severity information as well as dependency of blood transfusion. Previously, a comparative study of community- and hospital-recruited Hb E/β-thalassemia subjects was conducted in the lower northern Thailand between June 2020 and December 2021. A mobile medical team visited each community hospital on-site, collecting clinical severity parameters, and conducting Hb and DNA analyses. The control included Hb E/β-thalassemia patients undergoing transfusions. Subgroup study of adult Hb E/β (NT -28 A &gt; G) -thalassemia subjects was subsequently conducted. Additional pediatric individuals were recruited from prenatal diagnosis databases. Twenty adult and nine pediatric subjects were enrolled; all were classified as having mild disease severity. Twenty-two individuals (75.9 %) were asymptomatic. Six adults (20.7 %) required blood transfusion. The mean Hb level of subjects without transfusion (23 [79.3 %]) was 10.77 ± 1.10 g/dL. Hb analysis revealed a distinct EFA pattern with low Hb F fraction. The positive impact of genetic modifiers could not be statistically demonstrated except rs7482144-<em>Xmn</em>I. These findings could provide essential information for parents carrying fetuses with Hb E/β (NT -28 A &gt; G) -thalassemia.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102883"},"PeriodicalIF":2.1,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141997700","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":"Erythrocyte deformability correlates with systemic inflammation","authors":"Carmen Jacob ,&nbsp;Lakeesha Piyasundara ,&nbsp;Maria Bonello ,&nbsp;Michael Nathan ,&nbsp;Stefania Kaninia ,&nbsp;Aravinthan Varatharaj ,&nbsp;Noémi Roy ,&nbsp;Ian Galea","doi":"10.1016/j.bcmd.2024.102881","DOIUrl":"10.1016/j.bcmd.2024.102881","url":null,"abstract":"<div><p>Recent evidence suggests that systemic conditions, particularly those associated with inflammation, can affect erythrocyte deformability in the absence of haematological conditions. In this exploratory study, we investigated the relationship between systemic inflammatory status and erythrocyte deformability (using osmotic gradient ektacytometry) in a heterogenous study population consisting of individuals with no medical concerns, chronic conditions, and acute illness, providing a wide range of systemic inflammation severity.</p><p>22 participants were included in a prospective observational study. Maximum Elongation Index (EI_max) in ektacytometry served as the readout for erythrocyte deformability. Inflammatory status was assessed using C-reactive protein (CRP) and self-reported symptoms associated with inflammatory activation (Sickness Questionnaire Scores, SicknessQ).</p><p>In a univariate linear regression, both CRP and SicknessQ scores significantly predicted EI_max (CRP: F(1,20) = 7.751, <em>p</em> &lt; 0.05 (0.011), R² = 0.279; SicknessQ: F(1,18) = 4.831, p &lt; 0.05 (0.041), R² = 0.212). Sensitivity analyses with multivariable linear regression correcting for age showed concordant findings.</p><p>Results suggest a linear relationship between erythrocyte deformability and biochemical and clinical markers of systemic inflammation. Replication of findings in a larger study, and mechanisms and clinical consequences need further in investigation.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102881"},"PeriodicalIF":2.1,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1079979624000597/pdfft?md5=f23be722aa973fc8705021ee36b6de01&pid=1-s2.0-S1079979624000597-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141991059","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}

{"title":"Clinical utility of relative telomere length analysis in pediatric bone marrow failure","authors":"Shilpa Amatya ,&nbsp;Prateek Bhatia ,&nbsp;Sudhanshi Raina ,&nbsp;Sreejesh Sreedharanunni ,&nbsp;Minu Singh ,&nbsp;Emine Rahman ,&nbsp;M.V. Archana ,&nbsp;Amita Trehan","doi":"10.1016/j.bcmd.2024.102882","DOIUrl":"10.1016/j.bcmd.2024.102882","url":null,"abstract":"<div><h3>Introduction</h3><p>Telomere length related studies are limited in pediatric marrow failure cases due to difficulty in establishing population specific age related normograms. Moreover, there is paucity of data related to clinical relevance of telomere length in idiopathic aplastic anemia (IAA) and non telomere biology inherited bone marrow failure syndrome (IBMFS) cases. Methodology: Hence, in current study we investigated Relative telomere length (RTL) by RQ-PCR in 83 samples as: healthy controls (<em>n</em> = 44), IAA (<em>n</em> = 15) and IBMFS (<em>n</em> = 24). In addition, we performed chromosomal breakage studies and targeted NGS to screen for pathogenic variants. Results &amp; Conclusion: Median RTL was significantly different between control vs. IBMFS (<em>p</em>-0.002), IAA vs. IBMFS (<em>p</em>-0.0075) and DC vs. non-DC IBMFS (<em>p</em>-0.011) but not between control vs. IAA (<em>p</em>-0.46). RTL analysis had clinical utility in differentiating BMF cases as 75 % (9/12) of DC had short/very short telomeres compared to only 17 % (2/12) of non-DC IBMFS, 7 % (1/15) of IAA and 7 % (3/44) of controls (<em>p</em> &lt; 0.001).</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102882"},"PeriodicalIF":2.1,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888457","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":"The 50th anniversary of Blood Cells, Molecules and Diseases, 1975–2024","authors":"Marshall A. Lichtman","doi":"10.1016/j.bcmd.2024.102854","DOIUrl":"10.1016/j.bcmd.2024.102854","url":null,"abstract":"&lt;div&gt;&lt;p&gt;The journal &lt;em&gt;Blood Cells&lt;/em&gt; was initiated in 1975 by Marcel Bessis, a French hematologist and cell biologist, as a vehicle for the publication of papers and discussions presented at an international blood club meeting he convened at L' Institut de Pathologie Cellulaire on the campus of Hôpital Bicétre in Kremlin Bicétre, France, a commune on the southern border of Paris. The group met at the Institute for the first time in October 1972. After the first meeting, Bessis published the articles describing the presentations in the &lt;em&gt;Nouvelle Revue d'Hématologie Française&lt;/em&gt;, France's principal journal for articles on the science and practice of hematology of which he was the editor. The refusal of the &lt;em&gt;Nouvelle Revue d'Hématologie Française&lt;/em&gt; to continue publishing the papers from the meeting of the blood club in English prompted Bessis to start a new journal, &lt;em&gt;Blood Cells&lt;/em&gt;, in 1975. &lt;em&gt;Blood Cells&lt;/em&gt;, also, began to accept individual submitted papers unrelated to the blood club meeting and, thus, it evolved into a standard journal. A decade later, when Bessis became ill, he asked Brian Bull, a hematopathologist and professor at Loma Linda University School of Medicine in California to assume the position as the second editor-in-chief. He and Bessis had become scientific collaborators and good friends in the preceding years. In 1995, Ernest Beutler, Chair of Molecular and Experimental Medicine at Scripps Research Institute, assumed the editor-in-chief position and transformed the &lt;em&gt;Journal&lt;/em&gt; by making three consequential changes. He expanded its title to &lt;em&gt;Blood Cells, Molecules and Diseases&lt;/em&gt;, converted its editorial board to past presidents of the American Society of Hematology plus a few additional experimental hematologists of note, a few from abroad, and he converted the &lt;em&gt;Journal&lt;/em&gt; to a digital format, hosted on the Scripps Research Institute server. The &lt;em&gt;Journal&lt;/em&gt; was the first published solely in a digital format. It, subsequently, was bought by Academic Press, then Harcourt and, then, by Elsevier. The next three editors-in-chief were (i) Marshall A. Lichtman, then Professor of Medicine (Hematology) and of Biochemistry and Biophysics and former Dean of the School of Medicine and Dentistry at the University of Rochester Medical Center, editor from 2000 to 2013, (ii) Mohandas Narla, then Vice President for Research and Director of The Laboratory of Red Cell Physiology at the New York Blood Center, editor from 2014 to 2021 and (iii) Lionel Blanc, Professor of Molecular Medicine and Pediatrics, Center for Autoimmune, Musculoskeletal and Hematopoietic Diseases, Institute of Molecular Medicine, The Feinstein Institutes for Medical Research and the Les Nelkin Professor of Pediatric Oncology Donald and Barbara Zucker School of Medicine at Hofstra-Northwell from 2022 to the present. Although the &lt;em&gt;Journal&lt;/em&gt; publishes papers on any aspect of hematology, it has developed a focus on disorders of r","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"108 ","pages":"Article 102854"},"PeriodicalIF":2.1,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141729243","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":"Sickle cell disease in Indian tribal population: Findings of a multi-centre Indian SCD registry","authors":"Yogita Sharma ,&nbsp;Deepa Bhat ,&nbsp;Parikipandla Sridevi ,&nbsp;Shaily B. Surti ,&nbsp;Manoranjan Ranjit ,&nbsp;Jatin Sarmah ,&nbsp;Godi Sudhakar ,&nbsp;Bontha V. Babu","doi":"10.1016/j.bcmd.2024.102873","DOIUrl":"10.1016/j.bcmd.2024.102873","url":null,"abstract":"<div><h3>Background</h3><p>Sickle cell disease (SCD) registries provide crucial real-world data on demographics, epidemiology, healthcare, patient outcomes, and treatment efficacy. This paper presents findings from the Indian SCD Registry (ISCDR) on clinical manifestations, crisis episodes, disease management, and healthcare utilization in patients with SCD from 12 primary health centres (PHCs) in six tribal districts of India.</p></div><div><h3>Methods</h3><p>The ISCDR was introduced along with a three-tier screening process. Its Android-based application incorporates two electronic case report forms for patient data collection over one year. This paper presents a year's data from the ISCDR's 324 patients with SCD.</p></div><div><h3>Results</h3><p>Patients with SCD, aged one to 65 years, exhibited varied clinical manifestations. Most patients (85.2 %) were unaware of their SCD status before enrolling in ISCDR. Moderate to severe anaemia was prevalent (66.05 % and 30.56 %, respectively). Pain was a common complaint (80.86 %; CI: 76.17–85.00), while symptoms of stroke included sudden severe headaches (34.57 %; CI: 29.40–40.02). Common splenic sequestration symptoms included stomach pain (42.90 %; CI: 37.44–48.49) and abdominal tenderness (13.27 %; CI: 9.77–17.46), as a sign. Healthcare utilization was high, with 96.30 % receiving treatment and 83.64 % consuming hydroxyurea. Hospitalization occurred for 38.27 % (CI: 32.95–43.81), and 12.04 % (CI: 8.70–16.09) had blood transfusion during last year.</p></div><div><h3>Conclusions</h3><p>ISCDR serves as a dynamic digital database on SCD epidemiology, clinical aspects, treatment and healthcare utilization. Notably, many patients lacked prior awareness of their SCD status, underscoring the need for improved awareness and care management. Integrating the registry into the national programme can streamline treatment implementation, prioritize management approaches, and optimize individual benefits.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102873"},"PeriodicalIF":2.1,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141637396","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":"Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection","authors":"Ping Guo ,&nbsp;Xi Wu ,&nbsp;Mingkang Yang,&nbsp;Yilun Xue,&nbsp;Jiakuan Zhou,&nbsp;Zhixi Huang,&nbsp;Wenman Wu,&nbsp;Jianbiao Wang","doi":"10.1016/j.bcmd.2024.102874","DOIUrl":"10.1016/j.bcmd.2024.102874","url":null,"abstract":"<div><p>Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder characterized by severe immunodeficiency, albinism and coagulation deficiency. Mostly diagnosed in early childhood, this devastating condition is associated with lysosomal abnormalities attributed to the absence or impaired function of lysosomal trafficking regulator caused by mutations in the <em>CHS1/LYST</em> gene. In current study, we report a case of late-onset CHS caused by two novel compound heterozygous <em>CHS1/LYST</em> mutations: c.8407C &gt; T, leading to early termination of translation at residue Gln2803 (p. Gln2803Ter), and a small deletion c. 4020_4031del, resulting in an in-frame deletion of three amino acid residues (p. Asp1343_Val1346del). Both variants retain a large part of the CHS/LYST protein, particularly p. Asp1343_Val1346del, which preserves critical functional BEACH and WD40 domains in the C terminal, potentially maintaining residual activity and alleviating patient symptoms. The timeline of SARS-CoV-2 infection and rapid symptom progression suggests that the viral infection may have trigger the accelerated phase development leading to a poor prognosis.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"109 ","pages":"Article 102874"},"PeriodicalIF":2.1,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141698963","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}