Case Reports in Immunology最新文献

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A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. 一种新的STAT3基因突变相关高ige综合征误诊为化脓性汗腺炎。
IF 1
Case Reports in Immunology Pub Date : 2018-08-13 eCollection Date: 2018-01-01 DOI: 10.1155/2018/4860902
Pragya Shrestha, Geetika Sabharwal, Gisoo Ghaffari
{"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":null,"pages":null},"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}
引用次数: 5
Severe Allergic Bronchopulmonary Mycosis and Long-Term Follow-Up. 重度过敏性支气管肺真菌病及长期随访。
IF 1
Case Reports in Immunology Pub Date : 2018-08-12 eCollection Date: 2018-01-01 DOI: 10.1155/2018/4251673
Hossein Esmaeilzadeh, Sara Kashef, Hamid Reza Hatami, Soheila Alyasin, Hesamodin Nabavizadeh, Elmira Esmaeilzadeh
{"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":null,"pages":null},"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}
引用次数: 2
Omalizumab for Idiopathic Nonhistaminergic Angioedema: Evidence for Efficacy in 2 Patients. Omalizumab治疗特发性非组胺能性血管性水肿:2例患者的疗效证据
IF 1
Case Reports in Immunology Pub Date : 2018-07-22 eCollection Date: 2018-01-01 DOI: 10.1155/2018/8067610
Enrico Brunetta, Dana Shiffer, Marco Folci, Maria I S Achenza, Francesca Puggioni, Enrico Heffler, Raffaello Furlan, Giorgio W Canonica
{"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":null,"pages":null},"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}
引用次数: 7
Efficacy of Nivolumab in a Patient with Metastatic Renal Cell Carcinoma and End-Stage Renal Disease on Dialysis: Case Report and Literature Review. 纳武单抗在转移性肾细胞癌和终末期肾病透析患者中的疗效:病例报告和文献综述
IF 1
Case Reports in Immunology Pub Date : 2018-06-13 eCollection Date: 2018-01-01 DOI: 10.1155/2018/1623957
Jawaher Ansari, Muhammad Ali, Ashraf Farrag, Arwa M Ali, Abdulaziz Alhamad
{"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":null,"pages":null},"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}
引用次数: 26
EBV Infection in XLP1 Manifested Solely by Behavioral Aggression and Effective Treatment Using Rituximab. XLP1的EBV感染仅表现为行为攻击和利妥昔单抗的有效治疗。
IF 1
Case Reports in Immunology Pub Date : 2018-06-07 eCollection Date: 2018-01-01 DOI: 10.1155/2018/3705376
Michelle M Korah-Sedgwick, Luke A Wall
{"title":"EBV Infection in XLP1 Manifested Solely by Behavioral Aggression and Effective Treatment Using Rituximab.","authors":"Michelle M Korah-Sedgwick,&nbsp;Luke A Wall","doi":"10.1155/2018/3705376","DOIUrl":"https://doi.org/10.1155/2018/3705376","url":null,"abstract":"<p><p>Patients with X-linked lymphoproliferative disease 1 (XLP1) are exquisitely susceptible to Epstein-Barr virus (EBV), with the first EBV infection often resulting in rapid death. In a manner not previously described, a 5-year-old patient with XLP1 presented solely with behavioral aggression, with no laboratory evidence of organ dysfunction or inflammation. Although EBV-IgM was negative, PCR confirmed the presence of EBV in both the blood and cerebrospinal fluid. MRI of the brain showed frontal lobe foci. After failure to eradicate his viremia with ganciclovir, rituximab was administered. EBV was eradicated from the blood after the second rituximab infusion and remained absent for 5 months, at which time he underwent hematopoietic stem cell transplant. Although EBV classically produces fulminant infection in patients with XLP1, this case demonstrates that EBV infection may be initially subtle. Acute change in behavior should prompt evaluation. This case also demonstrates the possible effectiveness of rituximab in the treatment of acute EBV infection.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/3705376","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36286657","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
Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas. 失控的火车:泄漏的放射敏感SCID与皮肤病变和多发性淋巴瘤。
IF 1
Case Reports in Immunology Pub Date : 2018-05-14 eCollection Date: 2018-01-01 DOI: 10.1155/2018/2053716
Børre Fevang, Unn Merete Fagerli, Hanne Sorte, Harald Aarset, Håkon Hov, Marit Langmyr, Thomas Morten Keil, Ellen Bjørge, Pål Aukrust, Asbjørg Stray-Pedersen, Tobias Gedde-Dahl
{"title":"Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas.","authors":"Børre Fevang,&nbsp;Unn Merete Fagerli,&nbsp;Hanne Sorte,&nbsp;Harald Aarset,&nbsp;Håkon Hov,&nbsp;Marit Langmyr,&nbsp;Thomas Morten Keil,&nbsp;Ellen Bjørge,&nbsp;Pål Aukrust,&nbsp;Asbjørg Stray-Pedersen,&nbsp;Tobias Gedde-Dahl","doi":"10.1155/2018/2053716","DOIUrl":"https://doi.org/10.1155/2018/2053716","url":null,"abstract":"<p><p>The nuclease Artemis is essential for the development of T-cell and B-cell receptors and repair of DNA double-strand breaks, and a loss of expression or function will lead to a radiosensitive severe combined immunodeficiency with no functional T-cells or B-cells (T-B-SCID). Hypomorphic mutations in the <i>Artemis</i> gene can lead to a functional, but reduced, T-cell and B-cell repertoire with a more indolent clinical course called \"leaky\" SCID. Here, we present the case of a young man who had increasingly aggressive lymphoproliferative skin lesions from 2 years of age which developed into multiple EBV+ B-cell lymphomas, where a hypomorphic mutation in the <i>Artemis</i> gene was found in a diagnostic race against time using whole exome sequencing. The patient was given a haploidentical stem cell transplant while in remission for his lymphomas and although the initial course was successful, he succumbed to a serious <i>Pneumocystis jirovecii</i> pneumonia 5 months after the transplant. The case underscores the importance of next-generation sequencing in the diagnosis of patients with suspected severe immunodeficiency.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/2053716","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36210302","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
In Vitro Fertilization Using Luteinizing Hormone-Releasing Hormone Injections Resulted in Healthy Triplets without Increased Attack Rates in a Hereditary Angioedema Case. 在遗传性血管性水肿病例中,使用促黄体激素释放激素注射的体外受精导致健康三胞胎的发生率未增加。
IF 1
Case Reports in Immunology Pub Date : 2018-02-13 eCollection Date: 2018-01-01 DOI: 10.1155/2018/2706751
Ceyda Tunakan Dalgıç, Fatma Düşünür Günsen, Gökten Bulut, Emine Nihal Mete Gökmen, Aytül Zerrin Sin
{"title":"In Vitro Fertilization Using Luteinizing Hormone-Releasing Hormone Injections Resulted in Healthy Triplets without Increased Attack Rates in a Hereditary Angioedema Case.","authors":"Ceyda Tunakan Dalgıç,&nbsp;Fatma Düşünür Günsen,&nbsp;Gökten Bulut,&nbsp;Emine Nihal Mete Gökmen,&nbsp;Aytül Zerrin Sin","doi":"10.1155/2018/2706751","DOIUrl":"https://doi.org/10.1155/2018/2706751","url":null,"abstract":"<p><p>Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The management of pregnant patients with C1-INH-HAE is a challenge for the physician. Intravenous plasma-derived nanofiltered C1-INH (pdC1INH) is the only recommended option throughout pregnancy, postpartum, and breastfeeding period. In order to increase pregnancy rates, physicians use fertilization therapies increasing endogen levels of estrogens. Therefore, these techniques can provoke an increase in the number and severity of edema attacks in C1-INH-HAE. Our patient is a 32-year-old female, diagnosed with C1-INH-HAE type 1 since 2004. She had been taking danazol 50-200 mg/day for 9 years. Due to her pregnancy plans in 2013, danazol was discontinued. PdC1INH was prescribed regularly for prophylactic purpose. Triplet pregnancy occurred by <i>in vitro</i> fertilization using luteinizing hormone-releasing hormone (LHRH) injections. In our patient, LHRH injections were done four times without causing any severe attack during <i>in vitro</i> fertilization. Angioedema did not worsen during pregnancy and delivery due to the prophylactic use of intravenous pdC1INH in our patient. According to the attack frequency and severity, there was no difference between the three pregnancy trimesters. To our knowledge, this is the first published case of C1-INH-HAE receiving <i>in vitro</i> fertilization therapies without any angioedema attacks during pregnancy and delivery and eventually having healthy triplets with the prophylactic use of intravenous pdC1INH.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/2706751","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36021879","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
Effective Immunotherapy in Bone Marrow Metastatic Melanoma Presenting with Disseminated Intravascular Coagulopathy. 以弥漫性血管内凝血病为表现的骨髓转移性黑色素瘤的有效免疫治疗。
IF 1
Case Reports in Immunology Pub Date : 2018-02-12 eCollection Date: 2018-01-01 DOI: 10.1155/2018/4520294
Bolanle Gbadamosi, Daniel Ezekwudo, Bhadresh Nayak, Zhou Yu, Sandra Gjorgova-Gjeorgjievski, Ming Xie, Colvin Robert, Ishmael Jaiyesimi, Marianne Huben
{"title":"Effective Immunotherapy in Bone Marrow Metastatic Melanoma Presenting with Disseminated Intravascular Coagulopathy.","authors":"Bolanle Gbadamosi,&nbsp;Daniel Ezekwudo,&nbsp;Bhadresh Nayak,&nbsp;Zhou Yu,&nbsp;Sandra Gjorgova-Gjeorgjievski,&nbsp;Ming Xie,&nbsp;Colvin Robert,&nbsp;Ishmael Jaiyesimi,&nbsp;Marianne Huben","doi":"10.1155/2018/4520294","DOIUrl":"https://doi.org/10.1155/2018/4520294","url":null,"abstract":"<p><p>Malignant melanoma is responsible for the majority of skin cancer deaths and is increasing in prevalence. Bone marrow (BM) involvement by melanoma is rare in the absence of widespread visceral disease. Here, we report the case of a 30-year-old female who presented to the hospital with back pain, low-grade fever, and easy bruising. She was found to be bicytopenic and in disseminated intravascular coagulopathy (DIC). Surprisingly, BM biopsy showed extensive involvement by metastatic malignant melanoma in the absence of visceral or brain metastasis. The unique presentation of this case and the challenge of management of a potentially treatable cancer in a critically ill patient are discussed, alongside a review of published cases of metastatic melanoma in the BM and an exploration of currently available treatment options. The excellent response of our patient to combined immune checkpoint inhibitors has yet to be paralleled in the available literature.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/4520294","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36127689","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: 6
Elevated Serum IgG4 Levels in a Young Patient with Polyserositis and Necator americanus Infection. 1例年轻多浆液炎和美洲Necator感染患者血清IgG4水平升高。
IF 1
Case Reports in Immunology Pub Date : 2018-01-31 eCollection Date: 2018-01-01 DOI: 10.1155/2018/2974756
Giuseppe D Sanna, Roberto Manetti, Valentina de Filippo, Sergio Babudieri
{"title":"Elevated Serum IgG4 Levels in a Young Patient with Polyserositis and <i>Necator americanus</i> Infection.","authors":"Giuseppe D Sanna,&nbsp;Roberto Manetti,&nbsp;Valentina de Filippo,&nbsp;Sergio Babudieri","doi":"10.1155/2018/2974756","DOIUrl":"https://doi.org/10.1155/2018/2974756","url":null,"abstract":"<p><p>IgG4-related disease is a fibroinflammatory systemic condition characterized by tumefactive lesions, lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, and elevated serum IgG4 concentrations. It has been described in virtually every organ system. Autoimmunity and infectious agents are potential immunologic triggers in IgG4-related disease. Herein, we describe a peculiar case of effusive-constrictive pericarditis in an 18-year-old boy with polyserositis and concomitant <i>Necator americanus</i> infection.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2018-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/2974756","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36019761","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
Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes 坏死性肝肉芽肿/脓肿和缩窄曲霉病累及中枢神经系统心包炎:不同慢性肉芽肿病基因型的不同显着表型
IF 1
Case Reports in Immunology Pub Date : 2017-01-10 DOI: 10.1155/2017/2676403
S. Eren Akarcan, N. Karaca, G. Aksu, H. Bozkaya, M. Ayık, Yasemin Ozdemir Sahan, M. Kılınç, Z. Dokumcu, C. Eraslan, E. Divarcı, H. Alper, N. Kutukculer
{"title":"Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes","authors":"S. Eren Akarcan, N. Karaca, G. Aksu, H. Bozkaya, M. Ayık, Yasemin Ozdemir Sahan, M. Kılınç, Z. Dokumcu, C. Eraslan, E. Divarcı, H. Alper, N. Kutukculer","doi":"10.1155/2017/2676403","DOIUrl":"https://doi.org/10.1155/2017/2676403","url":null,"abstract":"Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2017-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81618124","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}
引用次数: 4
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