Case Reports in Immunology最新文献

{"title":"IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom.","authors":"Ali Al Maawali,&nbsp;Beata Derfalvi,&nbsp;Johan Van Limbergen,&nbsp;Andrew Issekutz,&nbsp;Thomas Issekutz,&nbsp;Hasan Ghandourah,&nbsp;Mohsin Rashid","doi":"10.1155/2020/9860863","DOIUrl":"https://doi.org/10.1155/2020/9860863","url":null,"abstract":"<p><p>IPEX (immune dysregulation-polyendocrinopathy-enteropathy-X-linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the <i>FOXP3</i> gene. This can lead to quantitative or functional deficiency of regulatory T cells (Treg), thereby affecting their immune-suppressive actions which can in turn cause autoimmune and inflammatory disorders. We describe an infant with IPEX syndrome with unremarkable maternal family history whose only presentations were severe diarrhea and malnutrition. The patient had a normal percentage of Treg cells and FOXP3 protein expression, but further testing revealed a hemizygous missense mutation in the <i>FOXP3</i> gene. IPEX syndrome should be considered in young children even if severe intractable diarrhea is the only symptom with no other autoimmune manifestations. Sequencing of the <i>FOXP3</i> gene should always be considered for accurate diagnosis to look for mutations even in the face of normal FOXP3 protein expression in the Treg cell.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"9860863"},"PeriodicalIF":1.0,"publicationDate":"2020-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/9860863","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38506002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Remarkable Coexistence of Systemic Capillary Leak Syndrome and Diabetes in an 11-Year-Old Boy: A Case Report and Review of the Literature.","authors":"Aysun Ata,&nbsp;Samim Özen,&nbsp;Damla Gökşen,&nbsp;Neslihan Edeer Karaca,&nbsp;Güzide Aksu,&nbsp;Necil Kütükçüler,&nbsp;Hüseyin Onay,&nbsp;Şükran Darcan","doi":"10.1155/2020/8891902","DOIUrl":"https://doi.org/10.1155/2020/8891902","url":null,"abstract":"<p><p>Systemic capillary leak syndrome (ISCLS) is a rare disease characterized by unexplained reversible capillary hyperpermeability followed by hypoperfusion, hemoconcentration, and either hypoalbuminemia or total hypoproteinemia. An 11-year-old boy was admitted with vomiting, generalized edema, and hyperglycemia, which was preceded by 5 days of coryzal symptoms, lethargy, and oral aft, without fever. On physical examination, he had tachycardia and hypotension, with severe generalized systemic nonitchy edema, and the laboratory tests supported the conclusion that he had severe hemoconcentration with hemoglobin: 184 g/L, hematocrit: 51.3 %, urea: 20 mmol/L, blood glucose: 11.1 mmol/L, and albumin: 19 gr/L, with normal urine analysis. On the fourth day, the patient was diagnosed with ISCLS, by ruling out other causes of shock and hypoalbuminemia. Intravenous immunoglobulin (IVIG) treatment regimen was administered on two consecutive days (day five and day six). His edema decreased on the fifth day, and the patient was deemed clinically well. There was no compartment syndrome, rhabdomyolysis, or pulmonary edema in the recovery period. However, respiratory virus panel PCR was positive for respiratory syncytial virus (RSV) and enterovirus, which were thought to be the triggering cause of ISCLS. For the differential diagnosis of diabetes, his fasting serum glucose was 13.4 mmol/L, simultaneous C-peptide was 0.44 nmol/L, and HbA1c was 64 mmol/mol, and urine ketone was positive. However, antiglutamic acid decarboxylase, anti-insulin antibody, and islet cell antibody were negative. At the last outpatient visit, 22 months after the diagnosis, his insulin dose was still 0.4 IU/kg/day and HbA1c was 40 mmol/mol, and without prophylaxis, there was no ISCLS attack. <i>Conclusion</i>. Early recognition of ISCLS is important for therapeutic awareness, since it is very rare in childhood and occurs usually without any prior provoking factors in healthy children. With the increase in awareness of the disease, knowledge and experiences about pediatric patients may also increase. We think that our case will contribute to the literature since there have been no pediatric diabetic patients with ISCLS reported.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"8891902"},"PeriodicalIF":1.0,"publicationDate":"2020-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8891902","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38497165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor.","authors":"Yike Jiang,&nbsp;Mihail Firan,&nbsp;Sarada L Nandiwada,&nbsp;Anaid Reyes,&nbsp;Rebecca A Marsh,&nbsp;Tiphanie P Vogel,&nbsp;Joud Hajjar","doi":"10.1155/2020/8841571","DOIUrl":"https://doi.org/10.1155/2020/8841571","url":null,"abstract":"<p><p>X-linked lymphoproliferative disease (XLP1) is a rare primary immunodeficiency characterized by EBV-triggered immune dysregulation, lymphoproliferation, dysgammaglobulinemia, and lymphoma. Early childhood mortality from overwhelming inflammation is expected in most patients. The only curative therapy is hematopoietic stem cell transplant (HSCT); however, whether to perform HSCT on an asymptomatic patient remains debatable. This uncertainty arises because the natural history of XLP1 patients without transplantation is not clear. In this case report, we present the natural history of XLP1 in a 43-year-old male patient who did not receive HSCT. We also review the literature on untransplanted XLP1 patients who lived into mid-adulthood. Despite surviving childhood presentations that are typically fatal, we found that these rare patients remain susceptible to manifestations of XLP1 decades later.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"8841571"},"PeriodicalIF":1.0,"publicationDate":"2020-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8841571","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38362961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Terrible Triad of Checkpoint Inhibition: A Case Report of Myasthenia Gravis, Myocarditis, and Myositis Induced by Cemiplimab in a Patient with Metastatic Cutaneous Squamous Cell Carcinoma.","authors":"Nikeshan Jeyakumar,&nbsp;Mikel Etchegaray,&nbsp;Jason Henry,&nbsp;Laura Lelenwa,&nbsp;Bihong Zhao,&nbsp;Ana Segura,&nbsp;L Maximilian Buja","doi":"10.1155/2020/5126717","DOIUrl":"https://doi.org/10.1155/2020/5126717","url":null,"abstract":"<p><strong>Background: </strong>We report a case of a patient with squamous cell carcinoma (SCC) who developed myasthenia gravis (MG), myositis, and myocarditis after receiving cemiplimab, an anti-PD-1 immune checkpoint inhibitor (ICI). <i>Case Presentation.</i> An 86-year-old man with metastatic periocular SCC presented with decreased vision in the left eye, severe fatigue, and lower back and bilateral hip pain 3 weeks after receiving cemiplimab. Within hours, he developed dysphonia, pharyngeal secretions, and dysphagia, necessitating intubation. Endomyocardial biopsy revealed active lymphocyte-mediated necrosis consistent with ICI-induced myocarditis. Anti-striated muscle and anti-acetylcholine receptor antibodies were elevated, consistent with myositis and myasthenia gravis. Despite plasma exchange therapy, steroids, and intravenous immunoglobulin, he died from cardiac arrest.</p><p><strong>Conclusions: </strong>The presence of myasthenia gravis, myocarditis, or myositis should prompt evaluation for all three toxicities as they may represent an overlap syndrome. The severity of these immunotoxicities highlights the need for clinicians to suspect multiple simultaneous adverse effects of ICIs.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"5126717"},"PeriodicalIF":1.0,"publicationDate":"2020-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/5126717","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38179180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Injection Site Erythema in a Patient on Therapeutic Anticoagulation with Low Molecular Weight Heparin after Mechanical Aortic Valve Replacement: A Rare Presentation of Heparin- and Protamine-Induced Thrombocytopenia.","authors":"Caroline Holaubek,&nbsp;Paul Simon,&nbsp;Sabine Eichinger-Hasenauer,&nbsp;Franz Gremmel,&nbsp;Barbara Steinlechner","doi":"10.1155/2020/4503598","DOIUrl":"https://doi.org/10.1155/2020/4503598","url":null,"abstract":"<p><p>Previous exposition to heparin and protamine in patients undergoing cardiopulmonary bypass and postoperative therapeutic anticoagulation with LMWH may lead to the development of heparin-induced thrombocytopenia (HIT) and/or protamine-induced thrombocytopenia (PIT). This case deals with a rare clinical presentation of circulating IgG antibodies against heparin/platelet factor 4 complexes and heparin/protamine complexes after cardiac surgery. Ensuing purpura and skin necrosis (blisters) at the injection sites of LMWH and clinical symptoms improved rapidly after replacement of LMWH by an alternative anticoagulant. The aim of this report is to draw attention to the several different clinical manifestations of heparin- and/or protamine-induced thrombocytopenia and shows a possible course of treatment and recovery.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"4503598"},"PeriodicalIF":1.0,"publicationDate":"2020-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/4503598","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37867067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings.","authors":"Tinsae Alemayehu,&nbsp;Solomie Jebessa Deribessa","doi":"10.1155/2020/8157212","DOIUrl":"https://doi.org/10.1155/2020/8157212","url":null,"abstract":"<p><strong>Background: </strong>Cellular primary immunodeficiencies are rarely reported from Africa. DiGeorge syndrome is a commonly recognized form of a congenital T-cell deficiency. The disorder is characterized by hypoplastic or aplastic thymus, hypocalcemia, recurrent infections, and other associated congenital defects. <i>Case Report</i>. We report an eleven-month-old infant presenting with recurrent chest and diarrheal infections, failure to thrive, lymphopenia, hypocalcemia, and hypoplastic thymus on imaging. A diagnosis of DiGeorge syndrome was confirmed after determining very low CD3 and CD4 levels.</p><p><strong>Conclusions: </strong>We describe the first case report of an Ethiopian child with a congenital T-cell immunodeficiency. We have outlined essentials for diagnosis and management of cellular primary immunodeficiency disorders in low resource settings.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"8157212"},"PeriodicalIF":1.0,"publicationDate":"2020-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8157212","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37726337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Posttransplantation Lymphoproliferative Disease Treated by Retransplantation.","authors":"Ingerid Weum Abrahamsen,&nbsp;Bjørn Christer Grønvold,&nbsp;Else Marit Inderberg,&nbsp;Nadia Mensali,&nbsp;Jonas Mattsson,&nbsp;Tobias Gedde-Dahl","doi":"10.1155/2020/9403123","DOIUrl":"https://doi.org/10.1155/2020/9403123","url":null,"abstract":"<p><p>Epstein-Barr virus- (EBV-) induced posttransplantation lymphoproliferative disease (PTLD) is a life-threatening complication following allogeneic stem cell transplantation. The main risk factor is anti-thymocyte globulin (ATG). Patients who fail first-line treatment with rituximab have a poor prognosis. Though adoptive transfer of EBV-specific T cells is a potentially effective option, it is not readily available. In this case report, the patient developed PTLD following transplantation for aplastic anemia using ATG as part of the conditioning. He failed rituximab treatment and developed graft failure. We were aware that the stem cell donor had a recent EBV infection prior to transplantation, whereas the patient most likely was EBV negative before transplant. We describe our strategy to meet the patient's urgent need for EBV-specific T cells, as well as new hematopoietic stem cells. The same donor was used for a second transplant, using peripheral blood stem cells. The conditioning used was thiotepa/busulfan/fludarabin with a single dose of cyclophosphamide after transplant as graft-versus-host disease (GVHD) prophylaxis. The EBV DNA levels fell when conditioning was started, and have been undetectable since day +15 and remained so till 18 months after transplantation. The patient is doing well. This case reports successful use of cyclophosphamide after transplantation as GVHD prophylaxis, preserving virus-specific immunity.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"9403123"},"PeriodicalIF":1.0,"publicationDate":"2020-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/9403123","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37726338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebellar Ataxia Followed by Stiff Person Syndrome in a Patient with Anti-GAD Antibodies.","authors":"Sinali O Seneviratne,&nbsp;Katherine A Buzzard,&nbsp;Belinda Cruse,&nbsp;Mastura Monif","doi":"10.1155/2020/8454532","DOIUrl":"https://doi.org/10.1155/2020/8454532","url":null,"abstract":"<p><p>Anti-GAD antibody syndrome is a result of the production of antibodies against glutamic acid decarboxylase (GAD), the main enzyme responsible for the production of gamma-aminobutyric acid (GABA). Several neurological manifestations including cerebellar ataxia and stiff person syndrome have been reported in association with anti-GAD antibodies. In this paper, we present a case of a young woman with anti-GAD antibodies who initially presented with cerebellar ataxia followed by stiff person syndrome three and a half years later. Having both cerebellar ataxia and stiff person syndrome is a rare occurrence in anti-GAD antibody syndrome. We emphasise the importance of long-term follow-up of patients with anti-GAD antibody syndrome, as delayed neurological manifestations can occur.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"8454532"},"PeriodicalIF":1.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8454532","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37670579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?","authors":"Jean-François Viallard,&nbsp;Marie Parrens,&nbsp;Frédéric Rieux-Laucat","doi":"10.1155/2019/2543038","DOIUrl":"https://doi.org/10.1155/2019/2543038","url":null,"abstract":"<p><p>We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein-Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency-associated genes (FAS-ligand (<i>FASL</i>) gene (p.G167R); perforin-1 (<i>PRF1</i> (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (<i>BLM</i>) gene and the Moesin (<i>MSN</i>) (p.A122T) gene). The heterozygous mutation in the <i>FASL</i> gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient's immunodepression is discussed. This observation strengthens the role of <i>FASL</i> gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people in a context of immunodeficiency.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"2543038"},"PeriodicalIF":1.0,"publicationDate":"2019-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/2543038","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37557943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation.","authors":"Tatyana Gavrilova","doi":"10.1155/2019/8746249","DOIUrl":"https://doi.org/10.1155/2019/8746249","url":null,"abstract":"<p><p>Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the <i>AIRE</i> gene is responsible for APECED. The author presents a case of APECED with a single <i>AIRE</i> mutation. Whole exome sequencing identified a mutation in the <i>BTNL2</i> gene that the author suggests may have contributed to the patient's presentation.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"8746249"},"PeriodicalIF":1.0,"publicationDate":"2019-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/8746249","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37557878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}