2,949 results match your criteria Pure Red Cell Aplasia


Myasthenia Gravis crossing Parkinson's Disease: a 20 year study from single Italian center.

Int J Neurosci 2022 Aug 2:1-10. Epub 2022 Aug 2.

Department of Biomedical, Metabolic Neural Sciences, University of Modena, Italy.

The concomitant diagnosis of Parkinson's disease (PD) and Myasthenia Gravis (MG) is rare.The aim of the study was to report our experience of patients with both diagnoses. We performed a retrospective analysis of patients with MG and PD, seen at Neurology Department, Modena, Italy from 2000 to 2020. Read More

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Linezolid-Induced Pure Red Cell Aplasia: A Case Report.

Infect Drug Resist 2022 20;15:3847-3856. Epub 2022 Jul 20.

Infectious Diseases Department, Hwa Mei Hospital, University of Chinese Academy of Sciences, Ningbo, 315010, People's Republic of China.

Linezolid (LZD) has been widely used for treating the infections of multidrug-resistant gram-positive organisms. As we know, anemias induced by Linezolid (LZD) are common. However, LZD-induced pure red cell aplasia (PRCA) is very rare. Read More

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Isolated Anemia in a 69-Year-Old Man with HIV-1: Features of Pure Red Cell Aplasia Mediated by Chronic Parvovirus-B19 Infection.

Am J Case Rep 2022 Jul 25;23:e936445. Epub 2022 Jul 25.

Department of General Medicine, Joondalup Health Campus, Joondalup, Western Australia, Australia.

BACKGROUND Pure red cell aplasia (PRCA) is an uncommon syndrome characterized by ineffective erythropoiesis and severe anemia. Among immunodeficient patients, including those with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), persistent parvovirus-B19 can cause PRCA. We report a rare case of an Australian man with parvovirus-B19 mediated PRCA secondary to a new diagnosis of HIV-1/AIDS. Read More

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Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.

Blood Cells Mol Dis 2022 11 6;97:102690. Epub 2022 Jul 6.

Institute of Molecular and Translational Medicine, Palacky University Olomouc, Hnevotinska 1333/5, 77900 Olomouc, Czech Republic. Electronic address:

Diamond-Blackfan anemia (DBA) is predominantly underlined by mutations in genes encoding ribosomal proteins (RP); however, its etiology remains unexplained in approximately 25 % of patients. We previously reported a novel heterozygous RPS7 mutation hg38 chr2:g.3,580,153G > T p. Read More

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November 2022

A 46-Year-Old Thai Woman with Secondary Acquired Pure Red Cell Aplasia Due to Treatment with Recombinant Erythropoietin While on Dialysis for End-Stage Renal Disease Who Recovered Following ABO-Incompatible Kidney Transplantation.

Am J Case Rep 2022 Jul 17;23:e935451. Epub 2022 Jul 17.

Division of Nephrology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

BACKGROUND Pure red cell aplasia (PRCA) is an uncommon cause of anemia in end-stage kidney disease (ESKD). It is attributed to recombinant human erythropoietin (rHuEPO) administration. Although immunosuppression is the mainstay therapy, its effectiveness varies from 30% to 70%. Read More

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[Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders].

Authors:
Asahito Hama

Rinsho Ketsueki 2022 ;63(6):590-599

Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Aichi Medical Center Nagoya First Hospital.

Diamond-Blackfan anemia (DBA), congenital dyserythropoietic anemia (CDA), and inherited sideroblastic anemia (ISA) are representative diseases of inherited bone marrow failure syndromes in erythrocyte diseases. DBA is primarily caused due to ribosomal dysfunctions. Furthermore, reticulocytes and erythroid progenitor cells decrease considerably within the peripheral blood and bone marrow, respectively. Read More

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The Growing Spectrum of DADA2 Manifestations-Diagnostic and Therapeutic Challenges Revisited.

Front Pediatr 2022 14;10:885893. Epub 2022 Jun 14.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.

Deficiency of Adenosine Deaminase Type 2 (DADA2) is a rare autosomal recessive inherited disorder with a variable phenotype including generalized or cerebral vasculitis and bone marrow failure. It is caused by variations in the adenosine deaminase 2 gene (), which leads to decreased adenosine deaminase 2 enzyme activity. Here we present three instructive scenarios that demonstrate DADA2 spectrum characteristics and provide a clear and thorough diagnostic and therapeutic workflow for effective patient care. Read More

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Extracorporeal membrane oxygenation rescue for severe pneumocystis pneumonia with the Macklin effect: a case report.

BMC Infect Dis 2022 Jun 27;22(1):577. Epub 2022 Jun 27.

Department of Emergency, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.

Background: Pneumocystis jirovecii pneumonia (PJP) in an immunocompromised host is often associated with the Macklin effect, which can progress to spontaneous pneumomediastinum (SPM), subcutaneous emphysema (SCE), and pneumothorax (PNX). Diagnosing the causative organism of these conditions in non-HIV infected patients and treating hypoxemia while preventing further lung damage can be challenging. This study examines the case of a non-HIV infected male with SPM, SCE, and PNX secondary to severe Pneumocystis jirovecii (PJ) infection. Read More

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Warm Autoimmune Hemolytic Anemia and Pure Red Cell Aplasia during a Severe COVID-19 B.1.1.7 Infection.

Infect Dis Rep 2022 Jun 2;14(3):413-419. Epub 2022 Jun 2.

Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R7, Canada.

Warm autoimmune hemolytic anemia (AIHA) is a rare complication of COVID-19 infection. We report a case of warm AIHA in a patient with COVID-19 pneumonia treated with methylprednisolone and several red blood cell transfusions. Despite treatment of the warm AIHA, the patient's reticulocyte count remained low, and his biochemical markers were suggestive of pure red cell aplasia, which was later attributed to a concurrent parvovirus B19 infection. Read More

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Concurrent de novo Thymoma-associated Paraneoplastic Type 1 Autoimmune Hepatitis and Pure Red Cell Aplasia After Thymectomy: A Case Report and Literature Review.

Intern Med 2022 Jun 14. Epub 2022 Jun 14.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, Keio University School of Medicine, Japan.

The precise manipulation of immune tolerance is the holy grail of immunotherapies for both autoimmunity and cancer immunity. Thymomas are well known to be associated with autoimmune diseases. The exact mechanism by which autoreactivity is induced after thymectomy remains to be elucidated. Read More

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Huge thymoma combined with pure red cell aplasia: a case report and literature review.

Gland Surg 2022 May;11(5):938-942

Department of Thoracic Surgery, The Affiliated Hospital of Zunyi Medical University, Zunyi, China.

Background: Thymoma is the most common tumor of the anterior mediastinum, especially in adults, and accounts for 20-25% of all mediastinal tumors and 50% of anterior mediastinal tumors. Thymomas originating from thymus epithelial cells or lymphocytes are the most common, and account for 95% of thymomas. Thymoma is a relatively rare and inert disease of the chest, and many thymoma patients have a long survival period despite disease progression. Read More

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A Persistent Parvovirus Infection Causing Anemia in an HIV Patient Requiring Intravenous Immunoglobulin Maintenance Therapy.

Cureus 2022 Apr 30;14(4):e24627. Epub 2022 Apr 30.

Hematology and Oncology, Jersey Shore University Medical Center, Neptune, USA.

Anemia is a common finding in a human immunodeficiency virus (HIV)-positive patient with a wide range of possible causes and is a significant risk factor for mortality in acquired immunodeficiency syndrome (AIDS). Opportunistic parvovirus infection-causing pure red cell aplasia is one of its uncommon causes. It has been suggested that immunocompromised patients with abnormal antibody production are more susceptible to acquiring a chronic parvovirus infection requiring long-term intravenous immunoglobulin (IVIg) treatment; however, there are no specific guidelines for it. Read More

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Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Front Immunol 2022 19;13:893000. Epub 2022 May 19.

Hematology Unit, Istituto di Ricerca e Cura a Carattere Scintifico (IRCCS) Istituto Giannina Gaslini, Genoa, Italy.

Cartilage-hair hypoplasia (CHH) is a syndromic immunodeficiency characterized by metaphyseal dysplasia, cancer predisposition, and varying degrees of anemia. It may present as severe combined immunodeficiency in infancy, or slowly progress until fully manifesting in late adolescence/adulthood. No targeted treatment is currently available, and patients are usually managed with supportive measures, or are offered a bone marrow transplant if the clinical phenotype is severe and a suitable donor is available. Read More

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Acute lymphocytic leukemia in a patient with long-term carbamazepine exposure: Acute lymphoblastic leukemia that develops in a patient who has been using carbamazepine for a long time.

J Oncol Pharm Pract 2022 Jun 3:10781552221105856. Epub 2022 Jun 3.

Department of Hematology, Faculty of Medicine in 52993Selcuk University, Konya, Turkey.

Introduction: Carbamazepine is an antiepileptic drug used in the treatment of epilepsy, trigeminal neuralgia, and bipolar disorder. Hematological effects that may develop with this anticonvulsant; agranulocytosis, thrombocytopenia, leukopenia, aplastic anemia, eosinophilia, or pancytopenia.

Case Report: In this article, we wanted to present a case diagnosed with acute lymphoblastic leukemia after long-term use of carbamazepine because of epilepsy. Read More

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A One-Year-Old Girl With Human Parvovirus B19 Infection and Hypocomplementemia Mimicking Incomplete Kawasaki Disease.

J Med Cases 2022 May 23;13(5):229-234. Epub 2022 Apr 23.

Department of Pediatrics, Kitami Red Cross Hospital, Kitami, Hokkaido 090-8666, Japan.

Human parvovirus B19 (B19) is a single-stranded DNA virus that targets erythroid progenitor cells in the bone marrow. B19 causes erythema infectiosum in children, transient aplastic anemia, pure red cell aplasia, hydrops fetalis, and contributes to other illnesses. An association between B19 infection and hypocomplementemia and rheumatoid arthritis has been reported, but the underlying mechanisms remain unclear. Read More

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Autoimmune Disease in Patients With Advanced Thymic Epithelial Tumors.

JTO Clin Res Rep 2022 May 21;3(5):100323. Epub 2022 Apr 21.

Division of Oncology, Department of Medicine, Cedars-Sinai Medical Center/Cedars-Sinai Samuel Oschin Comprehensive Cancer Institute, Los Angeles, California.

Introduction: Paraneoplastic autoimmune diseases (ADs) are a hallmark of thymic epithelial tumors (TETs) and affect treatment management in patients with advanced-stage tumors, yet the risk factors for development of AD in advanced TET remain poorly understood.

Methods: All patients with advanced TET treated at Stanford University between 2006 and 2020 were included. Charts were retrospectively reviewed for the presence of AD, demographic information, and treatment history. Read More

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DNA Methyl Transferase 3A (DNMT3A) Mutation Presenting as Isolated Pure Red Cell Aplasia.

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221097523

Department of Pathology, Marshall University, Huntington, WV, USA.

Pure red cell aplasia (PRCA) is a rare disorder mainly affecting the erythroid precursor cells. It presents with severe isolated reticulocytopenia with relatively normal counts in the myeloid and megakaryocytic lineages. It has been attributed to numerous congenital and acquired causes. Read More

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Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.

FEBS Open Bio 2022 Jul 6;12(7):1419-1434. Epub 2022 Jun 6.

Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Ribosomes, the cellular organelles translating the genetic code to proteins, are assemblies of RNA chains and many proteins (RPs) arranged in precise fine-tuned interwoven structures. Mutated ribosomal genes cause ribosomopathies, including Diamond Blackfan anemia (DBA, a rare heterogeneous red-cell aplasia connected to ribosome malfunction) or failed biogenesis. Combined bioinformatical, structural, and predictive analyses of potential consequences of possibly expressed mutations in eS19, the protein product of the highly mutated RPS19, suggest that mutations in its exposed surface could alter its positioning during assembly and consequently prevent biogenesis, implying a natural selective strategy to avoid malfunctions in ribosome assembly. Read More

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Lentiviral Mediated Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2.

Front Immunol 2022 22;13:852830. Epub 2022 Apr 22.

Infection, Immunity, Inflammation Department, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.

Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive disease caused by bi-allelic loss-of-function mutations in . Treatment with anti-TNF is effective for the autoinflammatory and vasculitic components of the disease but does not correct marrow failure or immunodeficiency; and anti-drug antibodies cause loss of efficacy over time. Allogeneic haematopoietic stem cell transplantation may be curative, but graft versus host disease remains a significant concern. Read More

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Incidence of Acquired Pure Red Cell Aplasia: A Nationwide Epidemiologic Analysis With 2 Registry Databases in Japan.

Blood Adv 2022 May 6. Epub 2022 May 6.

Shinshu Unversity Shool of Medicine, Japan.

Acquired pure red cell aplasia (PRCA) is a rare syndrome characterized by anemia with reticulocytopenia and a marked reduction in erythroid precursors. Given its rarity, the true incidence is largely unknown, and epidemiological data representing the general population, with a description of the full spectrum of etiologies, are scarce. An epidemiological study on PRCA in Japan conducted 30 years ago estimated the annual incidence as 0. Read More

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Daratumumab as a Frontline Immunosuppression for Pure Red Cell Aplasia after Major ABO-mismatched Allogeneic Hematopoietic Stem Cell Transplantation.

Leuk Res Rep 2022 13;17:100314. Epub 2022 Apr 13.

Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

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Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia.

Exp Hematol 2022 Jul 20;111:66-78. Epub 2022 Apr 20.

Division of Hematology/Oncology, Department of Pediatrics, Stanford University, Stanford, CA. Electronic address:

Diamond-Blackfan Anemia (DBA) is an inherited bone marrow failure syndrome that is associated with anemia, congenital anomalies, and cancer predisposition. It is categorized as a ribosomopathy, because more than 80% or patients have haploinsufficiency of either a small or large subunit-associated ribosomal protein (RP). The erythroid pathology is due predominantly to a block and delay in early committed erythropoiesis with reduced megakaryocyte/erythroid progenitors (MEPs). Read More

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Clinical characteristics and outcomes of 100 adult patients with pure red cell aplasia.

Ann Hematol 2022 Jul 23;101(7):1493-1498. Epub 2022 Apr 23.

Department of Hematology, Key Laboratory of Hematology of Nanjing Medical University, Collaborative Innovation Center for Cancer Personalized Medicine, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Guangzhou Road 300#, Nanjing, 210029, Jiangsu Province, China.

Adult pure red cell aplasia (PRCA) is a rare syndrome characterized by a severe normocytic anemia, reticulocytopenia, and absence of erythroblasts from bone marrow. The standard treatment has not yet been established for PRCA, although cyclosporine (CsA), corticosteroids (CS) showed a response in PRCA. We retrospectively analyzed the clinical data of 60 primary and 40 secondary adult patients with acquired PRCA. Read More

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Cutaneous allergic reaction correlates with anti-erythropoietin antibodies in dialysis patient developing pure red cell aplasia.

Clin Case Rep 2022 Apr 4;10(4):e05554. Epub 2022 Apr 4.

Clinical Department of Nephrology Santa Croce e Carle Cuneo Hospital Cuneo Italy.

We describe a case of concomitant erythropoietin allergy and resistance with a possible IgE and IgG-mediated immune response, in which the local allergic cutaneous symptoms preceded the antibody-mediated anemia. Read More

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Case Report: Pulmonary Tuberculosis Accompanied by Pure Red Cell Aplasia and Autoimmune Hemolytic Anemia.

Am J Trop Med Hyg 2022 Apr 11. Epub 2022 Apr 11.

Department of General Internal Medicine, Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan.

Tuberculosis is one of the most common infections worldwide. It has been associated with some hematologic disorders; however, pure red cell aplasia or autoimmune hemolytic anemia is rarely reported. We describe the case of a 68-year-old woman with pulmonary tuberculosis accompanied by pure red cell aplasia and autoimmune hemolytic anemia. Read More

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