Case Reports in Immunology最新文献

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Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature. 儿童Rapadilino综合征的免疫缺陷:1例报告及文献回顾。
IF 1
Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-05-06 DOI: 10.1155/2015/137368
M M G Vollebregt, A Malfroot, M De Raedemaecker, M van der Burg, J E van der Werff Ten Bosch
{"title":"Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.","authors":"M M G Vollebregt,&nbsp;A Malfroot,&nbsp;M De Raedemaecker,&nbsp;M van der Burg,&nbsp;J E van der Werff Ten Bosch","doi":"10.1155/2015/137368","DOIUrl":"https://doi.org/10.1155/2015/137368","url":null,"abstract":"<p><p>Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum infection. An immunological work-up showed several unexpected abnormalities. Repeated blood samples showed severe lymphopenia. Immunophenotyping showed low T, B, and NK cells. No Treg cells were seen. T cell responses to stimulations were insufficient. The IL12/IL23 interferon gamma pathway was normal. Gamma globulin levels and vaccination responses were low. With this report, we aim to stress the importance of screening immunodeficiency in patients with RECQL4 mutations for immunodeficiency and the need to further research into its physiopathology. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2015 ","pages":"137368"},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/137368","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33259623","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}
引用次数: 3
Combined treatment with antiviral therapy and rituximab in patients with mixed cryoglobulinemia: review of the literature and report of a case using direct antiviral agents-based antihepatitis C virus therapy. 抗病毒治疗和利妥昔单抗联合治疗混合冷球蛋白血症患者:文献综述和使用直接抗病毒药物治疗丙型肝炎的病例报告
IF 1
Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-03-01 DOI: 10.1155/2015/816424
Teresa Urraro, Laura Gragnani, Alessia Piluso, Alessio Fabbrizzi, Monica Monti, Elisa Fognani, Barbara Boldrini, Jessica Ranieri, Anna Linda Zignego
{"title":"Combined treatment with antiviral therapy and rituximab in patients with mixed cryoglobulinemia: review of the literature and report of a case using direct antiviral agents-based antihepatitis C virus therapy.","authors":"Teresa Urraro,&nbsp;Laura Gragnani,&nbsp;Alessia Piluso,&nbsp;Alessio Fabbrizzi,&nbsp;Monica Monti,&nbsp;Elisa Fognani,&nbsp;Barbara Boldrini,&nbsp;Jessica Ranieri,&nbsp;Anna Linda Zignego","doi":"10.1155/2015/816424","DOIUrl":"https://doi.org/10.1155/2015/816424","url":null,"abstract":"<p><p>Mixed cryoglobulinemia (MC) is an autoimmune/B-cell lymphoproliferative disorder associated with Hepatitis C Virus (HCV) infection, manifesting as a systemic vasculitis. In the last decade, antiviral treatment (AT) with pegylated interferon (Peg-IFN) plus ribavirin (RBV) was considered the first therapeutic option for HCV-MC. In MC patients ineligible or not responsive to antivirals, the anti-CD20 monoclonal antibody rituximab (RTX) is effective. A combined AT plus RTX was also suggested. Since the introduction of direct acting antivirals (DAAs), few data were published about MC and no data about a combined schedule. Here, we report a complete remission of MC after a sustained virological response following a combined RTX/Peg-IFN+RBV+DAA (boceprevir) treatment and review the literature about the combined RTX/AT. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2015 ","pages":"816424"},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/816424","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33165628","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}
引用次数: 31
Fever of unknown origin: an unusual presentation of kikuchi-fujimoto disease. 不明原因发热:菊chi-fujimoto病的不寻常表现。
IF 1
Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-03-22 DOI: 10.1155/2015/314217
Piyush Ranjan, Manish Soneja, Nellai Krishnan Subramonian, Vivek Kumar, Shuvadeep Ganguly, Tarun Kumar, Geetika Singh
{"title":"Fever of unknown origin: an unusual presentation of kikuchi-fujimoto disease.","authors":"Piyush Ranjan,&nbsp;Manish Soneja,&nbsp;Nellai Krishnan Subramonian,&nbsp;Vivek Kumar,&nbsp;Shuvadeep Ganguly,&nbsp;Tarun Kumar,&nbsp;Geetika Singh","doi":"10.1155/2015/314217","DOIUrl":"https://doi.org/10.1155/2015/314217","url":null,"abstract":"<p><p>Kikuchi-Fujimoto disease is a rare, benign, and self-limiting condition that mostly affects young females. Cervical lymphadenopathy with fever is the most common presentation of the disease. It may have unusual presentations that can lead to diagnostic dilemma and delay in diagnosis. We report a case of a 25-year-old female who presented with relapsing fever and cervical lymphadenopathy. Because of atypical presentation, there was a delay in diagnosis and increase in morbidity. High index of suspicion with collaboration between clinicians and pathologists is essential for early and accurate diagnosis of the disease. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2015 ","pages":"314217"},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/314217","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33217095","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}
引用次数: 4
Hereditary Angioedema and Gastrointestinal Complications: An Extensive Review of the Literature. 遗传性血管性水肿和胃肠道并发症:广泛的文献综述。
IF 1
Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-08-03 DOI: 10.1155/2015/925861
Napoleon Patel, Lisbet D Suarez, Sakshi Kapur, Leonard Bielory
{"title":"Hereditary Angioedema and Gastrointestinal Complications: An Extensive Review of the Literature.","authors":"Napoleon Patel,&nbsp;Lisbet D Suarez,&nbsp;Sakshi Kapur,&nbsp;Leonard Bielory","doi":"10.1155/2015/925861","DOIUrl":"https://doi.org/10.1155/2015/925861","url":null,"abstract":"<p><p>Hereditary Angioedema (HAE) is a rare autosomal dominant (AD) disease characterized by deficient (type 1) or nonfunctional (type 2) C1 inhibitor protein. The disorder is associated with episodes of angioedema of the face, larynx, lips, abdomen, or extremities. The angioedema is caused by the activation of the kallikrein-kinin system that leads to the release of vasoactive peptides, followed by edema, which in severe cases can be life threatening. The disease is usually not diagnosed until late adolescence and patients tend to have frequent episodes that can be severely impairing and have a high incidence of morbidity. Gastrointestinal involvement represents up to 80% of clinical presentations that are commonly confused with other gastrointestinal disorders such as appendicitis, cholecystitis, pancreatitis, and ischemic bower. We present a case of an HAE attack presenting as colonic intussusception managed conservatively with a C1 esterase inhibitor. Very few cases have been reported in the literature of HAE presentation in this manner, and there are no reports of any nonsurgical management of these cases. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2015 ","pages":"925861"},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/925861","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33977951","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}
引用次数: 26
Successful desensitization of a patient with rituximab hypersensitivity. 1例利妥昔单抗过敏患者成功脱敏。
IF 1
Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-01-20 DOI: 10.1155/2015/524507
Pinar Ataca, Erden Atilla, Resat Kendir, Sevim Bavbek, Muhit Ozcan
{"title":"Successful desensitization of a patient with rituximab hypersensitivity.","authors":"Pinar Ataca,&nbsp;Erden Atilla,&nbsp;Resat Kendir,&nbsp;Sevim Bavbek,&nbsp;Muhit Ozcan","doi":"10.1155/2015/524507","DOIUrl":"https://doi.org/10.1155/2015/524507","url":null,"abstract":"<p><p>Rituximab is a monoclonal antibody which targets CD20 in B cells that is used for the treatment of CD20 positive oncologic and hematologic malignancies. Rituximab causes hypersensitivity reactions during infusions. The delay of treatment or loss of a highly efficient drug can be prevented by rapid drug desensitization method in patients who are allergic to rituximab. We report a low grade B cell non-Hodgkin lymphoma patient with rituximab hypersensitivity successfully treated with rapid drug desensitization. In experienced centers, drug desensitization is a novel modality to break through in case of hypersensitivity that should be considered. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2015 ","pages":"524507"},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/524507","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33058114","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}
引用次数: 14
Behcet's Disease with Intracardiac Thrombus Presenting with Fever of Unknown Etiology. 白塞病合并心内血栓以不明原因的发热为表现。
IF 1
Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-09-03 DOI: 10.1155/2015/149359
Sajal Ajmani, Durga Prasanna Misra, Deep Chandh Raja, Namita Mohindra, Vikas Agarwal
{"title":"Behcet's Disease with Intracardiac Thrombus Presenting with Fever of Unknown Etiology.","authors":"Sajal Ajmani,&nbsp;Durga Prasanna Misra,&nbsp;Deep Chandh Raja,&nbsp;Namita Mohindra,&nbsp;Vikas Agarwal","doi":"10.1155/2015/149359","DOIUrl":"https://doi.org/10.1155/2015/149359","url":null,"abstract":"<p><p>A young male was referred to us for evaluation of fever of unknown origin (FUO). He had history of recurrent painful oral ulcers for one year and moderate to high grade fever, pustulopapular rash, and recurrent genital ulcers for 6 months and hemoptysis for 3 days. He was detected to have intracardiac thrombi and pulmonary arterial thrombosis along with underlying Behcet's disease (BD). Patient responded to high dose prednisolone (1 mg/Kg/day) along with monthly parenteral cyclophosphamide therapy. This case highlights the fact that BD is an important cause for pulmonary artery vasculitis with intracardiac thrombus formation, and such patients can present with FUO. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2015 ","pages":"149359"},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/149359","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34053143","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}
引用次数: 1
Infectious and noninfectious granulomatosis in patient with multiple sclerosis: diagnostic dilemmas and followup. 多发性硬化症患者感染性和非感染性肉芽肿:诊断困境和随访。
IF 1
Case Reports in Immunology Pub Date : 2014-01-01 Epub Date: 2014-02-17 DOI: 10.1155/2014/876525
Jelena Paovic, Predrag Paovic, Vojislav Sredovic
{"title":"Infectious and noninfectious granulomatosis in patient with multiple sclerosis: diagnostic dilemmas and followup.","authors":"Jelena Paovic,&nbsp;Predrag Paovic,&nbsp;Vojislav Sredovic","doi":"10.1155/2014/876525","DOIUrl":"https://doi.org/10.1155/2014/876525","url":null,"abstract":"<p><p>Patient was followed up over the course of 30 years. In 1978, after severe systemic infection followed by fever, pulmonary edema, and numerous neurological manifestations, patient was differentially diagnosed with apoplectic form of multiple sclerosis (MS), which was confirmed a year later via neurological and MRI findings. Approximately 20 years following the initial attack, sarcoidosis was diagnosed during the regular preoperative procedures required for cataract surgery. As consequence of lower immune system, infectious granulomatosis in form of pulmonary tuberculosis developed. Ophthalmological findings revealed bilateral retrobulbar neuritis (RBN) approximately six years after initial attack. This developed into total uveitis with retinal periphlebitis and anterior granulomatous uveitis-all of which are clinically similar in both MS and sarcoidosis. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2014 ","pages":"876525"},"PeriodicalIF":1.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/876525","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32799517","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}
引用次数: 0
Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation. 常染色体显性高IgE综合征伴转激活域STAT3突变的复发性皮肤和肺部感染。
IF 1
Case Reports in Immunology Pub Date : 2014-01-01 Epub Date: 2014-03-05 DOI: 10.1155/2014/136752
Chad J Cooper, Sarmad Said, German T Hernandez
{"title":"Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation.","authors":"Chad J Cooper,&nbsp;Sarmad Said,&nbsp;German T Hernandez","doi":"10.1155/2014/136752","DOIUrl":"https://doi.org/10.1155/2014/136752","url":null,"abstract":"<p><p>Background. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. Case Report. A 23-year-old Hispanic presented with history of frequent respiratory and gastrointestinal infections as a child and multiple episodes of skin and lung infections (abscess) with Staphylococcus aureus throughout his adult life. He had multiple eczematous lesions and folliculitis over his entire body, oral/esophageal candidiasis, and retention of his primary teeth. The IgE was elevated (>5000 IU/mL). Genetic mutation analysis revealed a mutation affecting the transactivation domain of the STAT3 gene. Conclusion. The hallmark of hyper IgE syndrome is serum IgE of >2000 IU/mL. Hyper IgE syndrome is a genetic disorder that is either autosomal dominant or recessive. A definite diagnosis can be made with genetic mutation analysis, and in this case, it revealed a very rare finding of the transactivation domain STAT3 mutation. Hyper IgE syndrome is a challenge for clinicians in establishing a diagnosis in suspected cases. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2014 ","pages":"136752"},"PeriodicalIF":1.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/136752","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32800659","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}
引用次数: 3
Systemic lupus erythematosus with hepatosplenic granuloma: a rare case. 系统性红斑狼疮合并肝脾肉芽肿1例。
IF 1
Case Reports in Immunology Pub Date : 2014-01-01 Epub Date: 2014-11-20 DOI: 10.1155/2014/737453
Anju Bharti, Lalit Prashant Meena
{"title":"Systemic lupus erythematosus with hepatosplenic granuloma: a rare case.","authors":"Anju Bharti,&nbsp;Lalit Prashant Meena","doi":"10.1155/2014/737453","DOIUrl":"https://doi.org/10.1155/2014/737453","url":null,"abstract":"<p><p>Background. Systemic lupus erythematosus (SLE) is an autoimmune disease which is known to present with a wide variety of clinical manifestations. Case Report. A 15-year-old male presented with complaints of moderate grade fever and generalized body swelling. There was no history of cough, weight loss, joint pain, oral ulcerations, skin rash, photosensitivity, loss of hair, pain abdomen, jaundice, or any significant illness in the past. Contrast enhanced computerized tomography of the abdomen revealed hypodense lesions in both liver and spleen (without contrast enhancement), suggestive of granulomas along with few retroperitoneal and mesenteric lymph nodes. On the basis of immunological tests and renal biopsy report, SLE with hepatosplenic granulomatosis diagnosis was made. He was given pulse methylprednisolone 500 mg, for 3 days and he showed dramatic improvement clinically. Conclusion. Hepatic and splenic granulomas are not common in SLE, but this should be kept in differential diagnosis. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2014 ","pages":"737453"},"PeriodicalIF":1.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/737453","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32906827","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}
引用次数: 4
Lepra reaction with lucio phenomenon mimicking cutaneous vasculitis. Lepra反应伴lucio现象,模拟皮肤血管炎。
IF 1
Case Reports in Immunology Pub Date : 2014-01-01 Epub Date: 2014-12-17 DOI: 10.1155/2014/641989
Durga Prasanna Misra, Jyoti Ranjan Parida, Abhra Chandra Chowdhury, Krushna Chandra Pani, Niraj Kumari, Narendra Krishnani, Vikas Agarwal
{"title":"Lepra reaction with lucio phenomenon mimicking cutaneous vasculitis.","authors":"Durga Prasanna Misra,&nbsp;Jyoti Ranjan Parida,&nbsp;Abhra Chandra Chowdhury,&nbsp;Krushna Chandra Pani,&nbsp;Niraj Kumari,&nbsp;Narendra Krishnani,&nbsp;Vikas Agarwal","doi":"10.1155/2014/641989","DOIUrl":"https://doi.org/10.1155/2014/641989","url":null,"abstract":"<p><p>Leprosy is a disease typically found in the tropics. Patients with leprosy can have varying presentation with constitutional symptoms, joint pains, skin nodules, and rarely a vasculitis-like picture with skin ulcers and neuropathy. We present a young lady who presented with the rare manifestation of skin infarcts mimicking cutaneous vasculitis, diagnosed on histopathology to have Lucio phenomenon on a background of lepromatous leprosy. With increasing migration and widespread use of biologic response modifiers, clinicians all over the world need to be aware of various presentations of leprosy as well as needing to keep an open mind while considering the differential diagnoses of vasculitis. </p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2014 ","pages":"641989"},"PeriodicalIF":1.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/641989","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32967833","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}
引用次数: 18
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