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":"44 1","pages":""},"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}
Bumsoo Park, Raghavendra C Vemulapalli, Amit Gupta, Maria E Shreve, Della A Rees
{"title":"Corrigendum to \"Docetaxel-Induced Systemic Sclerosis with Internal Organ Involvement Masquerading as Congestive Heart Failure\".","authors":"Bumsoo Park, Raghavendra C Vemulapalli, Amit Gupta, Maria E Shreve, Della A Rees","doi":"10.1155/2017/4809124","DOIUrl":"https://doi.org/10.1155/2017/4809124","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1155/2017/4249157.].</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2017 ","pages":"4809124"},"PeriodicalIF":1.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/4809124","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35154019","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":"Beer, Cider, and Wine Allergy.","authors":"Rhea A Bansal, Susan Tadros, Amolak S Bansal","doi":"10.1155/2017/7958924","DOIUrl":"https://doi.org/10.1155/2017/7958924","url":null,"abstract":"<p><p><i>Background</i>. Allergy to beer is often due to specific proteins in barley and sometimes to lipid transfer protein. Allergy to wine is frequently due to a sensitivity to grape proteins. We present a rare case of allergy to beer, wine, and cider resulting from IgE reactivity to yeasts and moulds which also explained the patient's additional sensitivity to yeast extracts and blue cheese. <i>Case Presentation</i>. The patient's symptoms included throat and facial itching accompanied by mild wheeze and severe urticaria. Diagnosis of allergy to yeast was confirmed by specific IgE testing as well as that to relevant foods and beverages. The patient's ongoing management included advice to avoid beer, wine, and other food groups containing specific yeasts, in addition to carrying a short acting nonsedating antihistamine as well as an adrenaline autoinjector. <i>Conclusions</i>. Cases of yeast allergy are extremely rare in medical literature but may be underrecognised and should be considered in patients presenting with reactions to alcoholic beverages and other yeast-containing products.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2017 ","pages":"7958924"},"PeriodicalIF":1.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/7958924","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34903795","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}
Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer
{"title":"Gain-of-Function Mutations in <i>STAT1</i>: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.","authors":"Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer","doi":"10.1155/2017/2846928","DOIUrl":"https://doi.org/10.1155/2017/2846928","url":null,"abstract":"<p><p>Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. <i>Candida albicans</i> grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages of lymphocyte subgroups, and in vitro T-cell proliferation responses were normal. She had parenchymal nodules within the lungs and a calcific nodule in the liver. Chronic-recurrent infections with different pathogens leading to significant morbidity suggested combined immunodeficiency, CMC, or Mendelian susceptibility to mycobacterial diseases. Genetic analysis revealed a predefined heterozygous gain-of-function mutation (GOF) (c.1154 C>T, p.Thr385Met) in the gene coding STAT1 molecule. Hematopoietic stem cell transplantation (HSCT) was planned because of severe recurring infections. Patients with <i>STAT1</i> GOF mutations may exhibit diverse phenotypes including infectious and noninfectious findings. HSCT should be considered as an early treatment option before permanent organ damage leading to morbidity and mortality develops. This case is presented to prompt clinicians to consider <i>STAT1</i> GOF mutations in the differential diagnosis of patients with chronic Candidiasis and recurrent infections with multiple organisms, since these mutations are responsible for nearly half of CMC cases reported.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2017 ","pages":"2846928"},"PeriodicalIF":1.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/2846928","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35672884","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}
Bumsoo Park, Raghavendra C Vemulapalli, Amit Gupta, Maria E Shreve, Della A Rees
{"title":"Docetaxel-Induced Systemic Sclerosis with Internal Organ Involvement Masquerading as Congestive Heart Failure.","authors":"Bumsoo Park, Raghavendra C Vemulapalli, Amit Gupta, Maria E Shreve, Della A Rees","doi":"10.1155/2017/4249157","DOIUrl":"https://doi.org/10.1155/2017/4249157","url":null,"abstract":"<p><p>Systemic sclerosis, or scleroderma, is a complex medical disorder characterized by limited or diffuse skin thickening with frequent involvement of internal organs such as lungs, gastrointestinal tract, or kidneys. Docetaxel is a chemotherapeutic agent which has been associated with cutaneous side effects. An uncommon cutaneous side effect of docetaxel is scleroderma-like skin changes that extend from limited to diffuse cutaneous systemic sclerosis. Several case reports have been published regarding the association of docetaxel and systemic sclerosis. However, those reports demonstrated the association between docetaxel and scleroderma-like skin changes without internal organ involvement. Here, we report a case of systemic sclerosis with pulmonary arterial hypertension and a microangiopathic kidney involvement induced by docetaxel chemotherapy. After an exhaustive literature review, this could be the first case of docetaxel-induced systemic sclerosis involving internal organs.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2017 ","pages":"4249157"},"PeriodicalIF":1.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/4249157","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34787598","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":"Concomitant Transverse Myelitis and Acute Axonal Sensory-Motor Neuropathy in an Elderly Patient.","authors":"L M Oliveira, R G Cury, L H Castro, R Nitrini","doi":"10.1155/2017/7289474","DOIUrl":"https://doi.org/10.1155/2017/7289474","url":null,"abstract":"<p><p>Diagnosing concomitant transverse myelitis (TM) and Guillain-Barré syndrome (GBS) can be challenging. We report a case of an elderly patient presenting with acute sensory and motor disturbances in the four limbs, associated with urinary retention, ophthalmoparesis, facial weakness, and dysarthria. Electrodiagnostic studies were consistent with acute motor sensory axonal neuropathy (AMSAN), and imaging showed a longitudinally extensive tumefactive contrast-enhancing hyperintense spinal cord lesion extending from T6 to the cone. Concomitant AMSAN and TM have not been previously reported in the elderly. Comorbid TM and other GBS variants have been previously reported. Intravenous methylprednisolone, plasma exchange, cyclophosphamide, or combination therapies are usually used, although there are no randomized controlled studies regarding treatment choices.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2017 ","pages":"7289474"},"PeriodicalIF":1.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/7289474","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35301080","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}
Tina Abraham, David P McGarry, J. Frith, Jason Casselman, H. Tcheurekdjian, R. Hostoffer
{"title":"Pure Cold-Induced Cholinergic Urticaria in a Pediatric Patient","authors":"Tina Abraham, David P McGarry, J. Frith, Jason Casselman, H. Tcheurekdjian, R. Hostoffer","doi":"10.1155/2016/7425601","DOIUrl":"https://doi.org/10.1155/2016/7425601","url":null,"abstract":"Cold urticaria and cholinergic urticaria are two distinct entities. The presentation of exclusive cold-induced cholinergic urticaria is very rare. The patient described herein had experienced urticaria in the exclusive setting of exercising in a cold environment. Urticarial testing including laboratory and in-office testing was all negative. The patient has prevented urticaria symptoms with oral antihistamine therapy. Pure cold-induced cholinergic urticaria is rarely described in literature. This form of urticaria has yet to be described in a pediatric patient.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"235 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2016-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89037401","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}
W. Rae, Yifang Gao, E. Eren, R. Döffinger, B. Marshall, Anthony P. Williams
{"title":"Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease","authors":"W. Rae, Yifang Gao, E. Eren, R. Döffinger, B. Marshall, Anthony P. Williams","doi":"10.1155/2016/9165641","DOIUrl":"https://doi.org/10.1155/2016/9165641","url":null,"abstract":"Nontuberculous mycobacteria (NTMs) are weakly virulent intracellular pathogens that are common in food and water supplies. The persistent culture of these organisms in the setting of clinical infection warrants investigation of immune function. In cases of isolated pulmonary NTM (PNTM) disease, underlying immune defects have not been clearly identified. We present two patients with isolated PNTM infection who demonstrated differentially impaired IFN-γ production across a range of stimuli. These cases show that cellular IFN-γ responses may be defective in a proportion of patient suffering PNTM disease and that when assessing responses, the stimulant used in the testing is important to delineate defective cell populations. Impaired IFN-γ responses to IL-12 + BCG seem to be a poor prognostic indicator in PNTM disease and in these cases were not improved by adjuvant IFN-γ.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"20 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2016-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78093951","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":"Tranexamic Acid: An Exceedingly Rare Cause of Anaphylaxis during Anaesthesia","authors":"R. Bansal, A. Nicholas, Amolak S. Bansal","doi":"10.1155/2016/7828351","DOIUrl":"https://doi.org/10.1155/2016/7828351","url":null,"abstract":"Tranexamic acid (TXA) allergy is extremely rare. An 80-year-old woman without prior exposure to TXA underwent elective knee replacement. Shortly after induction of anaesthesia and intravenous TXA, she developed hypotension, tachycardia, and facial erythema accompanied by a raised serum tryptase. Later, skin prick and intradermal testing confirmed positive responses to TXA in high dilution and with negative results to the other drugs used. While neuromuscular blocking agents, opiates, and antibiotics remain the most frequent cause of anaphylaxis during anaesthesia, allergy to TXA should always be borne in mind and requires skin testing for confirmation as there are presently no blood tests available.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"16 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2016-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87459497","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":"Giant Condyloma Acuminata in Indonesian Females with SLE under Immunosuppressant and Steroid Therapy","authors":"A. Rachman, Nabila Hasan","doi":"10.1155/2016/4710979","DOIUrl":"https://doi.org/10.1155/2016/4710979","url":null,"abstract":"Introduction. Immunosuppressant and steroid therapy in systemic lupus erythematosus (SLE) increases the risk of human papillomavirus (HPV) infections, one of which is giant condyloma acuminata (GCA). To our knowledge, there is no report evaluating the correlation between immunosuppressive and steroid therapy in patients with SLE and the prevalence of GCA. Case Report. A 42-year-old female was diagnosed with SLE a year ago and has been treated with steroids and immunosuppressive drugs. In the last few months she presented GCA involving the genital area recurring almost every two months. Type 6 and 11 HPVs were identified in vulva, vagina, and cervix. Methods. PubMed, EBSCO, and Cochrane Library literature were searched from inception to July 2015. Authors screened all titles and abstracts and read full text article, and two case-control studies were found relevant. Results. SLE patients in both studies were under immunosuppressive and steroid therapy. Condyloma acuminata was diagnosed at 108 months (latest) and 1 month (earliest) after SLE. Type 6, 11, 16, 42, and oncogenic group of HPV were identified. Conclusions. GCA is a type of HPV infection seldom observed in SLE patients. Therefore, their correlation is still unclear. Period of time since SLE was diagnosed and GCA varies from months to years. A more thorough physical and laboratory examination leading to HPV and other infectious disease is recommended.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"125 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2016-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87291109","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}