Case Reports in Immunology最新文献

{"title":"Parry-Romberg Syndrome with Uhthoff's Phenomena: A Spectrum of Autoimmune Disease?","authors":"Samuel Asanad","doi":"10.1155/2019/1752456","DOIUrl":"https://doi.org/10.1155/2019/1752456","url":null,"abstract":"<p><p>Parry-Romberg syndrome (PRS) is a rare disorder characterized by unilateral facial atrophy. Currently, the pathogenesis of PRS is poorly understood and no definitive treatment is available. This article reports the case of a 51-year-old woman with progressive hemifacial atrophy following herpes zoster infection, who presented with a concomitant chronic history of heat-induced diplopia. Magnetic resonance imaging showed unilateral cerebral white matter, periventricular, and medial longitudinal fasciculus lesions. The patient's diplopia resolved following treatment with valacyclovir. Infection has been previously considered as potential cause of PRS. However, herpes-induced PRS with ophthalmologic manifestations of Uhthoff's phenomena has not previously been reported. The present case suggests that PRS may possibly have an autoimmune etiology resembling that of multiple sclerosis.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2019-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/1752456","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37281446","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":"Vancomycin-Induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome Masquerading as Elusive Sepsis.","authors":"Sumon Roy,&nbsp;Vinay P Goswamy,&nbsp;Kirolos N Barssoum,&nbsp;Devesh Rai","doi":"10.1155/2019/1625010","DOIUrl":"https://doi.org/10.1155/2019/1625010","url":null,"abstract":"<p><p>We present a unique case of vancomycin-induced drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome masquerading as elusive endocarditis. A 37-year-old female actively using intravenous drugs presented with worsening right upper extremity pain, fever, and chills. Workup revealed methicillin-resistant staphylococcus aureus (MRSA) bacteremia and multiple right-sided septic pulmonary emboli. Echocardiogram was negative for vegetation. Vancomycin was initiated for bacteremia management suspected secondary to right upper extremity abscesses. However, despite resolution of abscesses, fevers persisted, raising suspicion for endocarditis not detected by echocardiogram. On hospital day 25, the patient began showing signs of DRESS syndrome, ultimately manifesting as transaminitis, eosinophilia, and a diffuse, maculopapular rash. Vancomycin was switched to Linezolid and she improved on high dose steroids. The persistent fevers throughout this hospital course were thought to be an elusive endocarditis before DRESS syndrome fully manifested. Although Vancomycin-induced DRESS is uncommon, this case highlights the importance of identifying early signs of significant adverse effects.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2019-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/1625010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37242484","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":"Anti-N-Methyl-D-Aspartate Encephalitis as Paraneoplastic Manifestation of Germ-Cells Tumours: A Cases Report and Literature Review.","authors":"Claudia Geraldine Rita,&nbsp;Israel Nieto Gañan,&nbsp;Adriano Jimenez Escrig,&nbsp;Ángela Carrasco Sayalero","doi":"10.1155/2019/4762937","DOIUrl":"https://doi.org/10.1155/2019/4762937","url":null,"abstract":"<p><p>Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is the most common form of autoimmune encephalitis, caused by the interaction between an antibody and its target, located on glutamate receptor type N-methyl-D-aspartate (NMDA) of neuronal surface. There is a wide spectrum of clinical features starting by a viral-like prodrome, followed by symptoms such as psychosis, aggressive behaviour, memory loss, seizures, movement disorders, and autonomic instability. Up to 50% of the affected young female patients have germ-cells tumours as ovarian teratoma, making it essential to establish an early diagnosis through detection of specific antibodies in serum and cerebrospinal fluid (CSF). This retrospective observational study was performed in patients whom positive anti-NMDA receptor antibodies have been tested, associated with clinical manifestations that suggest autoimmune encephalitis and a germ-cell tumour confirmed by pathology. Six patients have tested positive for anti-NMDA receptor antibodies associated with a germ-cell tumour and clinical manifestations of autoimmune encephalitis. Management includes aggressive immunosuppression and surgical removal.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2019-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/4762937","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37133939","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":"Castleman Disease in a Patient with Common Variable Immunodeficiency.","authors":"Luisa Ricciardi,&nbsp;Fabiana Furci,&nbsp;Antonio Ieni,&nbsp;Antonio Macrì","doi":"10.1155/2019/5476383","DOIUrl":"https://doi.org/10.1155/2019/5476383","url":null,"abstract":"<p><p>Common variable immunodeficiency (CVID) is a primary immunodeficiency due to a disorder of the adaptive immune system which causes hypogammaglobulinemia and therefore an increased susceptibility to infection; noninfectious, inflammatory conditions including systemic autoimmunity and lymphoproliferative complications are also commonly associated with CVID. Castleman disease (CD) is a systemic disease clinically characterized by diffuse lymphadenopathy, splenomegaly, anemia, and systemic inflammatory symptoms. This makes CD a great mimicker of more common benign and malignant masses in the neck, chest, abdomen, and pelvis. A novel case of primary immunodeficiency (CVID) in a middle-aged woman, who developed multicentric CD (MDC) with splenomegaly, is described. The authors suggest that the onset of MCD and of the correlated splenomegaly was due to incorrect management of the hypogammaglobulinemia as immunoglobulin G (IgG) levels were not kept within normal ranges. Correct management of the hypogammaglobulinemia allowed splenectomy to be performed without any infectious surgical complications. MCD is reported for the first time in association with an adult case of CVID. The above reported case highlights the need for a timely correct diagnosis and treatment of CVID to avoid complications, which could cause recourse to splenectomy, such as in our case or development of malignancies.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2019-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/5476383","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37248219","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 Forgotten Cause of Allergy at ER That Is Still Difficult to Diagnose and Treat at Poor Resource Setting: Angioedema after Using Angiotensin Converting Enzyme Inhibitors for 4 Years.","authors":"A A Nilanga Nishad,&nbsp;K Arulmoly,&nbsp;S A S Priyankara,&nbsp;P K Abeysundara","doi":"10.1155/2019/1676391","DOIUrl":"https://doi.org/10.1155/2019/1676391","url":null,"abstract":"<p><p>Angiotensin converting enzyme inhibitors (ACEi) are the most commonly used antihypertensives. Therefore, ACEI induced angioedema (ACEi-AE) is not uncommon. Physicians tend to miss the diagnosis whenever a patient is taking the drug for years due to misbelief of \"a drug that was taken for years may not be the cause for an allergic reaction or an angioedema\". But ACEi can induce angioedema after many years of usage as well as sometimes after stopping the drug even. Most of the emergency physicians and centers are not aware of clinical diagnosis and diagnostic criteria including available diagnostic tests and more importantly the treatment options of ACEi-AE. Therefore not only the diagnosis is delayed or missing but also proper treatment options are not practiced at many emergency rooms and at wards.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2019-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/1676391","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36922723","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":"Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity.","authors":"Sameer Bahal,&nbsp;Maha E Houssen,&nbsp;Ania Manson,&nbsp;Lorena Lorenzo,&nbsp;Mark A Russell,&nbsp;Noel G Morgan,&nbsp;Fariba Tahami,&nbsp;Sofia Grigoriadou","doi":"10.1155/2019/1869524","DOIUrl":"https://doi.org/10.1155/2019/1869524","url":null,"abstract":"<p><p>We present the case of a 19-year-old female with a mild form of Autosomal Dominant Hyper IgE syndrome (HIES) associated with a loss-of-function mutation in <i>STAT3</i>. Within the first years of life she developed multiple, <i>Staphylococcus aureus</i> associated abscesses in the neck and face requiring frequent incision and drainage. Respiratory tract infections were not a feature of the clinical phenotype and a high resolution thoracic CT scan was unremarkable. Retained dentition was noted but fungal nail disease and recurrent thrush were absent. The total IgE was 970 IU/L, Lymphocyte counts and immunoglobulin levels were normal (IgG borderline 18.5 gr/L). There was suboptimal response to test immunisation with Pneumovax II vaccine. Th17 cell phenotyping revealed low levels of IL-17 expressing cells (0.3% of total CD4 T Cells numbers). Genetic analysis identified a missense mutation, N567D, in a conserved region of the linker domain of STAT3. Functional studies in HEK293 cells reveal that this mutation potently inhibits STAT3 activity when compared to the wildtype protein. This is consistent with other reported mutations in <i>STAT3</i> associated with HIES. However, surprisingly, the magnitude of inhibition was similar to another STAT3 mutation (V637M) which causes a much more severe form of the disease.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/1869524","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9199432","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 Case of Eosinophilic Granulomatosis with Polyangiitis Complicated with A IgG4 Related Disease Like Symptoms.","authors":"Suguru Sato,&nbsp;Julia Morimoto,&nbsp;Yasuharu Oguchi,&nbsp;Takashi Umeda,&nbsp;Takaya Kawamata,&nbsp;Mami Rikimaru,&nbsp;Tatsuhiko Koizumi,&nbsp;Ryuichi Togawa,&nbsp;Yasuhito Suzuki,&nbsp;Yuki Sato,&nbsp;Manabu Uematsu,&nbsp;Hiroyuki Minemura,&nbsp;Takefumi Nikaido,&nbsp;Atsuro Fukuhara,&nbsp;Junpei Saito,&nbsp;Kenya Kanazawa,&nbsp;Yoshinori Tanino,&nbsp;Mitsuru Munakata,&nbsp;Yoko Shibata","doi":"10.1155/2018/3763084","DOIUrl":"https://doi.org/10.1155/2018/3763084","url":null,"abstract":"<p><p>We report a case of eosinophilic granulomatosis with polyangiitis (EGPA) complicated with a IgG4 related disease like symptoms presenting as eyelid swellings. In the present case, the serum level of IgG4 and the ratio of IgG4 to IgG were generally increased by the disease course of EGPA. Considering the course of clinical symptoms, there is a possibility that orbital manifestations were one of the clinical features during the disease course of EGPA while the histological features of right eyelid tissue and other ocular manifestations were consistent with the diagnosis of IgG4 related disease.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/3763084","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36896927","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":"Hereditary Angioedema Type II: First Presentation in Adulthood with Recurrent Severe Abdominal Pain.","authors":"Mohamed Abuzakouk,&nbsp;Nada AlMahmeed,&nbsp;Esat Memisoglu,&nbsp;Martine McManus,&nbsp;Aydamir Alrakawi","doi":"10.1155/2018/7435870","DOIUrl":"https://doi.org/10.1155/2018/7435870","url":null,"abstract":"<p><p>A 27-year-old Emirate man presented to Cleveland Clinic Abu Dhabi emergency department with a 4 year history of recurrent episodes of severe swellings affecting different parts of his body. He used to get 2 swelling episodes every week affecting either his face, hands, feet or scrotum and severe abdominal pain twice a week. Abdominal CT scan and a colonoscopy showed bowel wall oedema. There was no family history of similar complaint or of hereditary angioedema (HAE). Complement studies confirmed the diagnosis of HAE type II. He was commenced on danazol 100 mg twice daily and his symptoms resolved. This case report highlights the importance of considering HAE in patients with recurrent unexplained abdominal pain even in the absence of positive family history of HAE.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/7435870","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36737048","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":"An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation.","authors":"Necil Kutukculer,&nbsp;Neslihan Edeer Karaca,&nbsp;Guzide Aksu,&nbsp;Ayca Aykut,&nbsp;Erhan Pariltay,&nbsp;Ozgur Cogulu","doi":"10.1155/2018/6897935","DOIUrl":"https://doi.org/10.1155/2018/6897935","url":null,"abstract":"<p><p>When caring for patients with life-limiting diseases, improving survival and optimizing quality of life are the primary goals. For patients with X-linked hyper-IgM syndrome (XHIGM), the treatment modality has to be decided for a particular patient regarding hematopoietic stem cell transplantation or intravenous immunoglobulin replacement therapy with <i>P. jiroveci</i> prophylaxis. A seven-year-old male patient was admitted with recurrent upper and lower respiratory tract infections and recurrent otitis media. His initial immunologic evaluation revealed low IgG and normal IgA and IgM levels with normal lymphocyte phenotyping and inadequate specific antibody responses. He was diagnosed as common variable immunodeficiency and began to receive intravenous immunoglobulin (IVIG) (0.5 gm/kg) with four-week intervals. During follow-up for 23 years under IVIG therapy, he was extremely well and never had severe infections. In 2017, targeted next generation sequencing was performed in order to understand his molecular pathology. A previously described hemizygous c.31C>T(p.Arg11Ter) mutation was found in <i>CD40LG</i> gene. The mother was heterozygous carrier for this mutation and his sister did not have any mutation. Flow cytometric analysis for <i>CD40LG</i> expression on activated T cells showed highly decreased, but not absent, <i>CD40LG</i> expression. In conclusion, diagnostic delay is a clinical problem for patients with <i>CD40LG</i> deficiency, because of low or normal IgM levels, showing that all the hypogammaglobulinemic patients, not only with high serum IgM levels, but also with normal to low IgM levels, have to be examined for <i>CD40LG</i> expression on activated T lymphocytes. Secondly, type of <i>CD40LG</i> mutations leads to enormous interpatient variations regarding serum IgM levels, CD40LG levels on activated T cells, age at diagnosis, severity of clinical findings, and follow-up therapies with or without hematopoietic stem cell therapy.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/6897935","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36645919","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":"Successful Treatment of Severe Type B Lactic Acidosis in a Patient with HIV/AIDS-Associated High-Grade NHL.","authors":"Marco Mejia,&nbsp;Ariel Perez,&nbsp;Harold Watson,&nbsp;Daniel Sanchez,&nbsp;Jorge Parellada,&nbsp;Mario Madruga,&nbsp;S J Carlan","doi":"10.1155/2018/9093623","DOIUrl":"https://doi.org/10.1155/2018/9093623","url":null,"abstract":"<p><p>Type B lactic acidosis is a rare metabolic complication sometimes associated with hematologic malignancies. When present, this type of lactic acidosis is most commonly seen in patients with high-grade lymphomas or leukemias and is usually indicative of a dismal prognosis. We report a case of a 27-year man with acquired immunodeficiency syndrome (AIDS) that presented with bilateral lower extremity swelling, an abdominal mass, and weight loss. His lab values showed elevated anion gap with lactic acidosis and computed tomography (CT) of the abdomen showed a large soft-tissue mass arising from the left hepatic lobe. Biopsy of the abdominal mass demonstrated a high-grade diffuse large B-cell lymphoma. The patient's lactic acidosis resolved after starting chemotherapy, and a complete response was evident on PET-CT after a third cycle of rituximab, etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin (EPOC-RR). Care-givers should be aware of the implications of lactic acidosis associated with malignancy and the need for prompt diagnosis and treatment.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/9093623","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36612077","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}