Case Reports in Immunology最新文献

{"title":"IgG4-Related Sclerosing Disease Causing Spinal Cord Compression: The First Reported Case in Literature","authors":"Nooraldin Merza, A. Taha, J. Lung, Anthony W. Benderman, S. Wright","doi":"10.1155/2019/3618510","DOIUrl":"https://doi.org/10.1155/2019/3618510","url":null,"abstract":"Immunoglobulin G4-related disease (IgG4-RD) is known for forming soft tissue mass lesions that may have compressive effects. It is an extremely rare disease that most frequently affects the pancreas causing autoimmune pancreatitis. It can also affect the gallbladder, salivary glands, and lacrimal glands causing respective organ-specific complications. In our report, we describe an IgG4-RD case that affected the spinal cord. A 60-year-old female presented with cervical spinal cord compression caused by IgG4-RD leading to several neurological deficits. Pathological examination of the excisional biopsy of the mass revealed dense lymphoplasmacytic cells infiltration and stromal fibrosis with IgG4 and plasma cells. The patient showed a dramatic response to the administration of systemic steroids with almost resolution of her neurological symptoms. This case highlights the first case in literature for IgG4-RD of the extradural tissue causing spinal compression. Hereby, we also demonstrate the dramatic response of IgG4-RD to the administration of systemic steroids as the patient had no recurrence after 5 years of close follow-up, the longest reported period of follow-up reported in the literature to date.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"6 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2019-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82534311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","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":"2019 ","pages":"1869524"},"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":"2018 ","pages":"3763084"},"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":"2018 ","pages":"7435870"},"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":"2018 ","pages":"6897935"},"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":"2018 ","pages":"9093623"},"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}

{"title":"A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa.","authors":"Pragya Shrestha,&nbsp;Geetika Sabharwal,&nbsp;Gisoo Ghaffari","doi":"10.1155/2018/4860902","DOIUrl":"https://doi.org/10.1155/2018/4860902","url":null,"abstract":"<p><p>Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2018 ","pages":"4860902"},"PeriodicalIF":1.0,"publicationDate":"2018-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/4860902","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36464314","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":"Severe Allergic Bronchopulmonary Mycosis and Long-Term Follow-Up.","authors":"Hossein Esmaeilzadeh,&nbsp;Sara Kashef,&nbsp;Hamid Reza Hatami,&nbsp;Soheila Alyasin,&nbsp;Hesamodin Nabavizadeh,&nbsp;Elmira Esmaeilzadeh","doi":"10.1155/2018/4251673","DOIUrl":"https://doi.org/10.1155/2018/4251673","url":null,"abstract":"<p><p>Allergic bronchopulmonary aspergillosis (ABPA) is the most common immunologic reaction following fungal allergen exposure in asthmatic patients. A less frequent syndrome in response to other fungal species like candida is allergic bronchopulmonary mycosis (ABPM). This reaction is mostly associated with asthma exacerbation, changes in Immunoglobulin E levels, and nonspecific findings in high resolution computed tomography (HRCT). This study presents a 9-year-old girl, a known case of childhood asthma, resolved 4 years ago as a novel case of ABPM due to <i>Candida albicans</i> manifested by severe emphysema, bronchiectasis, and pneumothorax which consequently required long-term treatment to get relieved.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2018 ","pages":"4251673"},"PeriodicalIF":1.0,"publicationDate":"2018-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/4251673","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36440389","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":"Omalizumab for Idiopathic Nonhistaminergic Angioedema: Evidence for Efficacy in 2 Patients.","authors":"Enrico Brunetta,&nbsp;Dana Shiffer,&nbsp;Marco Folci,&nbsp;Maria I S Achenza,&nbsp;Francesca Puggioni,&nbsp;Enrico Heffler,&nbsp;Raffaello Furlan,&nbsp;Giorgio W Canonica","doi":"10.1155/2018/8067610","DOIUrl":"https://doi.org/10.1155/2018/8067610","url":null,"abstract":"<p><p>Presently, there is inconclusive evidence regarding the most effective treatment for idiopathic nonhistaminergic acquired angioedema (InH-AAE). Omalizumab may, however, prove to be a promising option. This case report describes two patients who presented with recurrent angioedema attacks, which was refractory to antihistamine therapy. Hence, they were treated with 300 mg omalizumab, every 4 weeks, for a period of 6 months. Both patients had shown a rapid response to the treatment and achieved complete resolution of symptoms without further AE attacks throughout the entire duration of the treatment period. After omalizumab's suspension, one patient remained symptom free for the following 6 months and the other patient had recurrence of symptoms after 2 months for which he was retreated with omalizumab and once again became symptom free. Although omalizumab seems to be effective as a prophylactic treatment for InH-AAE, the determining factors leading to the differences in time-to-relapse between patients after its suspension remain unclear. Further studies are needed in order to better determine the potential therapeutic application of omalizumab and its role in maintenance therapy.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2018 ","pages":"8067610"},"PeriodicalIF":1.0,"publicationDate":"2018-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/8067610","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36425252","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":"Efficacy of Nivolumab in a Patient with Metastatic Renal Cell Carcinoma and End-Stage Renal Disease on Dialysis: Case Report and Literature Review.","authors":"Jawaher Ansari,&nbsp;Muhammad Ali,&nbsp;Ashraf Farrag,&nbsp;Arwa M Ali,&nbsp;Abdulaziz Alhamad","doi":"10.1155/2018/1623957","DOIUrl":"https://doi.org/10.1155/2018/1623957","url":null,"abstract":"<p><p>Treatment of patients with metastatic renal cell carcinoma (mRCC) and end-stage renal disease (ESRD) on dialysis poses a therapeutic challenge, particularly as this patient group was excluded from the pivotal clinical trials. In addition, there is uncertainty regarding drug dosing/pharmacokinetics, lack of safety and efficacy data, and potential for increased toxicity when using targeted therapy or immunotherapy for the management of patients with mRCC on dialysis. Nivolumab, an anti-programmed death-1 immune checkpoint inhibitor antibody, is indicated for the treatment of patients with mRCC who have received prior antiangiogenic therapy. Given the above-mentioned uncertainties, clinicians may be reluctant to use nivolumab for this patient population, leading to potential denial of life-prolonging medications. We report the case of a 72-year-old gentleman with mRCC and ESRD on dialysis who received second-line nivolumab therapy and achieved an excellent symptomatic and radiological response, remaining progression-free for over 22 months. In addition, we have reviewed the pharmacokinetic data and published retrospective case studies to review the management options for patients with mRCC and ESRD on dialysis.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2018 ","pages":"1623957"},"PeriodicalIF":1.0,"publicationDate":"2018-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/1623957","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36314093","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}