Case Reports in Immunology最新文献_第10页

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases 家族性病例中，对于IL10R缺乏导致的早发性炎症性肠病的早期诊断和造血干细胞移植至关重要

IF 1

Case Reports in Immunology Pub Date : 2016-09-06 DOI: 10.1155/2016/5459029

N. Karaca, G. Aksu, Ezgi Ulusoy, S. Aksoylar, Salih Gozmen, F. Genel, S. Akarcan, N. Gulez, T. Hirschmugl, S. Kansoy, K. Boztug, N. Kutukculer

{"title":"Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases","authors":"N. Karaca, G. Aksu, Ezgi Ulusoy, S. Aksoylar, Salih Gozmen, F. Genel, S. Akarcan, N. Gulez, T. Hirschmugl, S. Kansoy, K. Boztug, N. Kutukculer","doi":"10.1155/2016/5459029","DOIUrl":"https://doi.org/10.1155/2016/5459029","url":null,"abstract":"Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2016-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87122391","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: 19

Mycetoma Caused by Acremonium Species in a Patient with Chronic Granulomatous Disease 慢性肉芽肿患者由顶孢菌所致足菌肿1例

IF 1

Case Reports in Immunology Pub Date : 2016-02-28 DOI: 10.1155/2016/3209493

R. Antrobus, G. Wong, Julie Jones, A. Huissoon

引用次数: 3

Successful Use of Plasma Exchange in the Treatment of Corticosteroid-Refractory Eosinophilic Granulomatosis with Polyangiitis Associated with Gastrointestinal Manifestations 血浆置换成功治疗皮质类固醇难治性嗜酸性肉芽肿病伴胃肠道表现的多血管炎

IF 1

Case Reports in Immunology Pub Date : 2016-02-17 DOI: 10.1155/2016/8341751

Kohei Tsujimoto, M. Yagita, M. Taniguchi, M. Fujita

引用次数: 3

Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. 自身免疫淋巴增生性综合征:消失的HDL综合征的罕见原因。

IF 1

Case Reports in Immunology Pub Date : 2016-01-01 Epub Date: 2016-08-08 DOI: 10.1155/2016/7945953

Swetha Sriram, Avni Y Joshi, Vilmarie Rodriguez, Seema Kumar

{"title":"Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome.","authors":"Swetha Sriram, Avni Y Joshi, Vilmarie Rodriguez, Seema Kumar","doi":"10.1155/2016/7945953","DOIUrl":"https://doi.org/10.1155/2016/7945953","url":null,"abstract":"The term disappearing HDL syndrome refers to development of severe high density lipoprotein cholesterol (HDL-C) deficiency in noncritically ill patients with previously normal HDL-C and triglyceride levels. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of the immune system due to an inability to regulate lymphocyte homeostasis resulting in lymphadenopathy and hepatosplenomegaly. We describe a 17-year-old boy who was evaluated in the lipid clinic for history of undetectable or low HDL-C and low density lipoprotein cholesterol (LDL-C) levels. Past medical history was significant for ALPS IA diagnosed at 10 years of age when he presented with bilateral cervical adenopathy. He was known to have a missense mutation in one allele of the FAS protein extracellular domain consistent with ALPS type 1A. HDL-C and LDL-C levels had been undetectable on multiple occasions, though lipids had not been measured prior to the diagnosis of ALPS. He had been receiving sirolimus for immunosuppression. The HDL-C and LDL-C levels correlated with disease activity and improved to normal levels during times when the activity of ALPS was controlled. This case highlights the importance of considering ALPS as a cause of low HDL-C and LDL-C levels in a child with evidence of lymphoproliferation. ","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2016/7945953","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34350937","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

Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta. 基于trec的异常新生儿筛查试验在胎盘大量绒毛周围纤维蛋白沉积的早产新生儿中。

IF 1

Case Reports in Immunology Pub Date : 2016-01-01 Epub Date: 2016-06-22 DOI: 10.1155/2016/5083274

Stefan Kostadinov, Karen A Robbins, Anthony Hayward

{"title":"Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta.","authors":"Stefan Kostadinov, Karen A Robbins, Anthony Hayward","doi":"10.1155/2016/5083274","DOIUrl":"https://doi.org/10.1155/2016/5083274","url":null,"abstract":"Severe combined immunodeficiency (SCID), a primary immunodeficiency arising from variable defects in lymphocyte development and survival, is characterized by significant deficiency of thymus derived (T-) lymphocytes and variable defects in the B-lymphocyte population. Newborn screening for SCID is based on detection of low numbers of T-cell receptor excision circles (TRECs) by real time quantitative PCR (RT-qPCR). This screening allows for early identification of individuals with SCID and other disorders characterized by T-lymphopenia. Higher rates of abnormal screens are commonly seen in premature and critically ill neonates, often representing false positives. It is possible that many abnormal screens seen in these populations are result of conditions that are characterized by systemic inflammation or stress, possibly in the context of stress-induced thymic involution. We present a case of a male infant delivered at 27 weeks, 6 days of gestation, with severe intrauterine growth restriction who had an abnormal TREC screen and a massive perivillous fibrin deposition (MPFD) of the placenta. This association has not been reported previously. We are raising the awareness to the fact that conditions, such as MPFD, that can create adverse intrauterine environment are capable of causing severe stress-induced thymic involution of the fetus which can present with abnormal TREC results on newborn screening. ","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2016/5083274","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34560829","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

Successful Pregnancy Outcome in Women with Recurrent IVF Failure and Anti-hCG Autoimmunity: A Report of Three Cases. 反复试管婴儿失败和抗 hCG 自身免疫妇女的成功妊娠结果：三个病例的报告

IF 1

Case Reports in Immunology Pub Date : 2016-01-01 Epub Date: 2016-11-24 DOI: 10.1155/2016/4391537

Valeria Muller, Ksenia Ob'edkova, Inna Krikheli, Igor Kogan, Irina Fedorova, Elena Lesik, Evgenia Komarova, Alexandr Gzgzyan

引用次数: 0

Refractory Immunological Thrombocytopenia Purpura and Splenectomy in Pregnancy 难治性免疫性血小板减少性紫癜与妊娠脾切除术

IF 1

Case Reports in Immunology Pub Date : 2015-12-21 DOI: 10.1155/2015/216362

S. Bernal-Macías, L. Fino-Velásquez, Felipe E. Vargas-Barato, Lucio Guerra-Galue, Benjamín Reyes-Beltrán, A. Rojas-Villarraga

引用次数: 4

Life Threatening Idiopathic Recurrent Angioedema Responding to Cannabis. 大麻对危及生命的特发性复发性血管性水肿的反应。

IF 1

Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-07-16 DOI: 10.1155/2015/780824

Amit Frenkel, Aviel Roy-Shapira, Brotfain Evgeni, Koyfman Leonid, Abraham Borer, Moti Klein

{"title":"Life Threatening Idiopathic Recurrent Angioedema Responding to Cannabis.","authors":"Amit Frenkel, Aviel Roy-Shapira, Brotfain Evgeni, Koyfman Leonid, Abraham Borer, Moti Klein","doi":"10.1155/2015/780824","DOIUrl":"https://doi.org/10.1155/2015/780824","url":null,"abstract":"We present a case of a 27-year-old man with recurrent episodes of angioedema since he was 19, who responded well to treatment with medical grade cannabis. Initially, he responded to steroids and antihistamines, but several attempts to withdraw treatment resulted in recurrence. In the last few months before prescribing cannabis, the frequency and severity of the attacks worsened and included several presyncope events, associated with scrotal and neck swelling. No predisposing factors were identified, and extensive workup was negative. The patient reported that he was periodically using cannabis socially and that during these periods he was free of attacks. Recent data suggest that cannabis derivatives are involved in the control of mast cell activation. Consequently, we decided to try a course of inhaled cannabis as modulators of immune cell functions. The use of inhaled cannabis resulted in a complete response, and he has been free of symptoms for 2 years. An attempt to withhold the inhaled cannabis led to a recurrent attack within a week, and resuming cannabis maintained the remission, suggesting a cause and effect relationship. ","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/780824","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33906852","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

Brain Abscess and Keratoacanthoma Suggestive of Hyper IgE Syndrome. 提示高IgE综合征的脑脓肿和角棘瘤。

IF 1

Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-04-28 DOI: 10.1155/2015/341898

Soheyla Alyasin, Reza Amin, Alireza Teymoori, Hamidreza Houshmand, Gholamreza Houshmand, Mohammad Bahadoram

{"title":"Brain Abscess and Keratoacanthoma Suggestive of Hyper IgE Syndrome.","authors":"Soheyla Alyasin, Reza Amin, Alireza Teymoori, Hamidreza Houshmand, Gholamreza Houshmand, Mohammad Bahadoram","doi":"10.1155/2015/341898","DOIUrl":"https://doi.org/10.1155/2015/341898","url":null,"abstract":"Hyper immunoglobulin-E (IgE) syndrome is an autosomal immune deficiency disease. It is characterized by an increase in IgE and eosinophil count with both T-cell and B-cell malfunction. Here, we report an 8-year-old boy whose disease started with an unusual skin manifestation. When 6 months old he developed generalized red, nontender nodules and pathologic report of the skin lesion was unremarkable (inflammatory). Then he developed a painless, cold abscess. At the age of 4 years, he developed a seronegative polyarticular arthritis. Another skin biopsy was taken which was in favor of Keratoacanthoma. Laboratory workup for immune deficiency showed high eosinophil count and high level of immunoglobulin-E, due to some diagnostic criteria (NIH sores: 41 in 9-year-olds), he was suggestive of hyper IgE syndrome. At the age of 8, the patient developed an abscess in the left inguinal region. While in hospital, the patient developed generalized tonic colonic convulsion and fever. Brain computed tomography scan revealed an abscess in the right frontal lobe. Subsequently magnetic resonance imaging (MRI) of the brain indicated expansion of the existing abscess to contralateral frontal lobe (left side). After evacuating the abscesses and administrating intravenous antibiotic, the patient's condition improved dramatically and fever stopped. ","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/341898","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33376379","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

Systemic Sarcoidosis Presenting with Headache and Stroke-Like Episodes. 系统性结节病表现为头痛和卒中样发作。

IF 1

Case Reports in Immunology Pub Date : 2015-01-01 Epub Date: 2015-09-29 DOI: 10.1155/2015/619867

J Campbell, R Kee, D Bhattacharya, P Flynn, M McCarron, A Fulton

{"title":"Systemic Sarcoidosis Presenting with Headache and Stroke-Like Episodes.","authors":"J Campbell, R Kee, D Bhattacharya, P Flynn, M McCarron, A Fulton","doi":"10.1155/2015/619867","DOIUrl":"https://doi.org/10.1155/2015/619867","url":null,"abstract":"Sarcoidosis is a multisystem granulomatous disorder. Neurological manifestations as a presenting symptom are relatively rare. A 26-year-old male presented with a five-week history of headache suggestive of raised intracranial pressure. He subsequently developed transient episodes of mild right-sided hemiparesis and numbness. Magnetic resonance imaging (MRI) of brain revealed widespread inflammatory white matter lesions, an ischaemic focus in the left corona radiata, and widespread microhaemorrhages consistent with a more diffuse vasculopathy. Serum angiotensin-converting enzyme (ACE) level was normal. Lumbar puncture revealed an elevated opening pressure (36 cmH2O) and inflammatory cerebrospinal fluid (CSF). Computerised tomography (CT) of chest, abdomen, and pelvis revealed widespread lymphadenopathy and biopsy of axillary lymph nodes revealed the presence of noncaseating granulomata in keeping with systemic sarcoidosis. The patient responded well to corticosteroids. This case highlights the importance of considering sarcoidosis to be a rare but potentially treatable cause of stroke in younger patients. ","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2015/619867","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34176657","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: 8