Lu Jiang, Xiaohan Hu, Qiang Lin, Ruyue Chen, Yunyan Shen, Yun Zhu, Qinying Xu, Xiaozhong Li
{"title":"Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1.","authors":"Lu Jiang, Xiaohan Hu, Qiang Lin, Ruyue Chen, Yunyan Shen, Yun Zhu, Qinying Xu, Xiaozhong Li","doi":"10.1186/s13223-023-00840-0","DOIUrl":"10.1186/s13223-023-00840-0","url":null,"abstract":"<p><strong>Background: </strong>Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ catalytic p110δ (PIK3CD). APDS1 has a spectrum of clinical manifestations. Recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, hyper-IgM syndrome and autoimmunity are the common symptoms of this disease.</p><p><strong>Case presentation: </strong>Patient 1 presented with recurrent respiratory infections, hepatosplenomegaly and hyper-IgM syndrome. Patient 2 developed early onset systemic lupus erythematosus (SLE)-like disease with resistant thrombocytopenia. c.3061 G > A and c.2314G > A variants in the PIK3CD gene were detected by whole exome sequencing in two patients respectively. c.2314G > A variant in PIK3CD gene of patient 2 is a newly report. After genetic diagnosis, two patients received sirolimus treatment and sirolimus alleviated clinical manifestations, including hepatosplenomegaly in patient 1 and thrombocytopenia in patient 2.</p><p><strong>Conclusion: </strong>Genetics diagnosis should be considered in patients with complicated clinical manifestations with no or insufficient response to the conventional therapies. If whole exome sequencing suggests a variant in PIK3CD gene, sirolimus may relieve hepatosplenomegaly and resistant thrombocytopenia. This is the first report of c.2314G > A variant in PIK3CD gene.</p>","PeriodicalId":51302,"journal":{"name":"Allergy Asthma and Clinical Immunology","volume":"19 1","pages":"86"},"PeriodicalIF":2.7,"publicationDate":"2023-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10518115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41166029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vicente Jover Cerdá, Ramón Rodríguez Pacheco, Joan Doménech Witek, Sonia Alonso Hernández, Rafael Durán García, Marina Real Panisello, Francisco Manuel Marco de la Calle
{"title":"Allergological study in patients vaccinated against COVID-19 with suspected allergic reactions.","authors":"Vicente Jover Cerdá, Ramón Rodríguez Pacheco, Joan Doménech Witek, Sonia Alonso Hernández, Rafael Durán García, Marina Real Panisello, Francisco Manuel Marco de la Calle","doi":"10.1186/s13223-022-00685-z","DOIUrl":"https://doi.org/10.1186/s13223-022-00685-z","url":null,"abstract":"<p><strong>Background: </strong>One of the main barriers to vaccination against SARS-CoV-2 is the fear of developing hypersensitivity reactions to any of its components. Although these reactions are very rare, it is necessary to establish an effective protocol to detect patients at risk of developing them. The aim of this study was to evaluate hypersensitivity reactions in vaccinated patients in order to allow or not to complete the vaccination protocol.</p><p><strong>Methods: </strong>Descriptive and cross-sectional study in which patients with suspected hypersensitivity to SARS-CoV-2 vaccines were evaluated. All patients underwent skin prick test (SPT) and/or intradermal test (IDT) with the vaccines and their excipients. In patients with positive IDT with the vaccine, a histopathological and immunohistochemical study was performed by skin biopsy. A basophil activation test (BAT) and a lymphoblastic transformation test (LTT) were also performed.</p><p><strong>Results: </strong>Sixteen patients with suspected hypersensitivity to SARS-CoV-2 vaccine (12 received Comirnaty<sup>®</sup>, 3 received Vaxzevria<sup>®</sup>, and 1 received Spikevax<sup>®</sup>) were evaluated. Half had immediate hypersensitivity reactions and half had delayed reactions. All SPTs to excipients and vaccines were negative. IDTs with all excipients were negative. IDTs with vaccines were positive in 11 patients and negative in 5. The histological and immunohistochemical study of the two selected patients with positive IDT with vaccine showed T-lymphocyte involvement. BAT and LTT were negative in both cases. The vaccination protocol could be completed in 7 of 16 patients (44%) studied. The remaining 9 patients did not receive the second dose: 5 because vaccination was not required and 4 because they refused to be vaccinated.</p><p><strong>Conclusions: </strong>Thanks to the allergological and immunohistochemical study, the vaccination protocol could be completed in about half of the patients who presented suspected hypersensitivity reactions to SARS-CoV-2 vaccines. IDTs with vaccines could be a valuable method for assessing the immunogenicity of the vaccines.</p>","PeriodicalId":51302,"journal":{"name":"Allergy Asthma and Clinical Immunology","volume":"18 1","pages":"43"},"PeriodicalIF":2.7,"publicationDate":"2022-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9136194/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Gawchik, P. Creticos, K. Murphy, G. Berman, D. Bernstein, J. Maloney, A. Kaur, H. Nolte
{"title":"The effect of the ragweed sublingual immunotherapy tablet MK-3641 on rescue medication use","authors":"S. Gawchik, P. Creticos, K. Murphy, G. Berman, D. Bernstein, J. Maloney, A. Kaur, H. Nolte","doi":"10.1186/1710-1492-10-S2-A32","DOIUrl":"https://doi.org/10.1186/1710-1492-10-S2-A32","url":null,"abstract":"","PeriodicalId":51302,"journal":{"name":"Allergy Asthma and Clinical Immunology","volume":"43 1","pages":"A32 - A32"},"PeriodicalIF":2.7,"publicationDate":"2014-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1710-1492-10-S2-A32","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66127180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Massoud, Gabriel N Kaufman, M. Taylor, M. Béland, C. Piccirillo, W. Mourad, B. Mazer
{"title":"Peripherally induced Foxp3+ regulatory T cells mediates the immunomodulatory effect of intravenous immunoglobulin in an experimental model of allergic airway disease","authors":"A. Massoud, Gabriel N Kaufman, M. Taylor, M. Béland, C. Piccirillo, W. Mourad, B. Mazer","doi":"10.1186/1710-1492-10-S1-A50","DOIUrl":"https://doi.org/10.1186/1710-1492-10-S1-A50","url":null,"abstract":"","PeriodicalId":51302,"journal":{"name":"Allergy Asthma and Clinical Immunology","volume":"10 1","pages":"A50 - A50"},"PeriodicalIF":2.7,"publicationDate":"2014-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1710-1492-10-S1-A50","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66126894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Anaphylaxis deaths in Ontario: a retrospective review of cases from 1986 to 2011","authors":"Ya S Xu, S. Waserman, L. Harada, M. Kastner","doi":"10.1186/1710-1492-8-S1-A8","DOIUrl":"https://doi.org/10.1186/1710-1492-8-S1-A8","url":null,"abstract":"","PeriodicalId":51302,"journal":{"name":"Allergy Asthma and Clinical Immunology","volume":"8 1","pages":"A8 - A8"},"PeriodicalIF":2.7,"publicationDate":"2012-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1710-1492-8-S1-A8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66127710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A new insight into FEIA","authors":"Jennifer Chen, Jason K. Lee","doi":"10.1186/1710-1492-7-S2-A32","DOIUrl":"https://doi.org/10.1186/1710-1492-7-S2-A32","url":null,"abstract":"","PeriodicalId":51302,"journal":{"name":"Allergy Asthma and Clinical Immunology","volume":"7 1","pages":"1-1"},"PeriodicalIF":2.7,"publicationDate":"2011-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/1710-1492-7-S2-A32","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66128032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}