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A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies. 抗磷脂抗体阳性科恩综合征患者VPS13B基因的新突变
IF 1
Case Reports in Immunology Pub Date : 2021-08-25 eCollection Date: 2021-01-01 DOI: 10.1155/2021/3143609
Roghayeh Dehghan, Mahdiyeh Behnam, Alireza Moafi, Mansoor Salehi
{"title":"A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies.","authors":"Roghayeh Dehghan,&nbsp;Mahdiyeh Behnam,&nbsp;Alireza Moafi,&nbsp;Mansoor Salehi","doi":"10.1155/2021/3143609","DOIUrl":"https://doi.org/10.1155/2021/3143609","url":null,"abstract":"<p><p>Cohen syndrome is an autosomal recessive disorder with the primary symptoms of mental deficiency, progressive retinopathy, hypotonia, microcephaly, obesity of midchildhood onset, intermittent neutropenia, and dysmorphic facial features. The syndrome has high phenotypic heterogeneity and is caused by loss-of-function mutations in the VPS13B gene. Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) in the VPS13B gene in an 11-year-old Iranian boy with major symptoms of Cohen syndrome. He also had mild anemia accompanied by positive antiphospholipid antibodies, the latter has never been previously reported in Cohen syndrome.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8413065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39404021","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
Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome. 低温蛋白相关周期综合征患者NLRP3基因全外显子组测序新变异的鉴定
IF 1
Case Reports in Immunology Pub Date : 2021-08-16 eCollection Date: 2021-01-01 DOI: 10.1155/2021/2023119
Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee
{"title":"Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome.","authors":"Mahdieh Vahedi,&nbsp;Nima Parvaneh,&nbsp;Saeedeh Vahedi,&nbsp;Mohammad Shahrooei,&nbsp;Vahid Ziaee","doi":"10.1155/2021/2023119","DOIUrl":"https://doi.org/10.1155/2021/2023119","url":null,"abstract":"<p><strong>Background: </strong>NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). <i>Case Presentation</i>. We report a 1-year-old boy who had recurrent urticarial rash since birth and joint pain and swelling. He had a missense mutation c.G1060 T (p.A354S) in exon 5 of the NLRP3 gene which was detected by whole exome sequencing.</p><p><strong>Conclusion: </strong>A novel variant was found in the NLRP3 gene which has not been reported by now.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8384535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39356314","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: 3
Gastric Adenocarcinoma in the Setting of IPEX Syndrome. IPEX综合征背景下的胃腺癌。
IF 1
Case Reports in Immunology Pub Date : 2021-06-25 eCollection Date: 2021-01-01 DOI: 10.1155/2021/9967198
David Steffin, Saleh Bhar, Douglas S Fishman, Nicholas L Rider, Bindi Naik-Mathuria, Caridad Martinez, Rajkumar Venkatramani
{"title":"Gastric Adenocarcinoma in the Setting of IPEX Syndrome.","authors":"David Steffin,&nbsp;Saleh Bhar,&nbsp;Douglas S Fishman,&nbsp;Nicholas L Rider,&nbsp;Bindi Naik-Mathuria,&nbsp;Caridad Martinez,&nbsp;Rajkumar Venkatramani","doi":"10.1155/2021/9967198","DOIUrl":"https://doi.org/10.1155/2021/9967198","url":null,"abstract":"<p><p>Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the <i>FOXP3</i> gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aberrant <i>FOXP3</i> expression has been associated with several types of cancer, little is known regarding the risk of cancer in patients with IPEX harboring the characteristic <i>FOXP3</i> mutation. Here, we present a unique case of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX syndrome.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39183095","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
Novel ZAP-70-Related Immunodeficiency Presenting with Epstein-Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis. 新型zap -70相关免疫缺陷表现为爱泼斯坦-巴尔病毒淋巴增殖性疾病和噬血细胞性淋巴组织细胞增多症。
IF 1
Case Reports in Immunology Pub Date : 2021-06-19 eCollection Date: 2021-01-01 DOI: 10.1155/2021/6587323
Moriah Forster, Timothy Moran, Anne Beaven, Timothy Voorhees
{"title":"Novel ZAP-70-Related Immunodeficiency Presenting with Epstein-Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis.","authors":"Moriah Forster,&nbsp;Timothy Moran,&nbsp;Anne Beaven,&nbsp;Timothy Voorhees","doi":"10.1155/2021/6587323","DOIUrl":"https://doi.org/10.1155/2021/6587323","url":null,"abstract":"<p><p>Zeta-chain-associated protein kinase 70 (ZAP-70) plays an integral role in the T-cell antigenic receptor complex. A deficiency of this kinase leads to a phenotype of severe combined immunodeficiency, while hypomorphic mutations of the kinase lead to more mild immunodeficiency phenotypes. We present a case of a 21-year-old patient with lymphadenopathy who was found to have Epstein-Barr virus (EBV) lymphoproliferative disease (LPD) and the development of hemophagocytic lymphohistiocytosis (HLH). On further workup, the patient was ultimately found to have a homozygous intrionic mutation in ZAP-70. This is a novel ZAP-70 mutation (c.1623 + 5G > A) associated with combined immunodeficiency and an EBV-positive LPD. A primary immunodeficiency is important to consider in a young, otherwise healthy patient presenting with an EBV-positive LPD.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39167278","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
Can Heparin-Coated ECMO Cannulas Induce Thrombocytopenia in COVID-19 Patients? 肝素包被ECMO套管能诱导COVID-19患者血小板减少吗?
IF 1
Case Reports in Immunology Pub Date : 2021-06-04 eCollection Date: 2021-01-01 DOI: 10.1155/2021/6624682
Barbara Steinlechner, Gabriele Kargl, Christine Schlömmer, Caroline Holaubek, Georg Scheriau, Sabine Eichinger, Johannes Gratz, Bernhard Rössler
{"title":"Can Heparin-Coated ECMO Cannulas Induce Thrombocytopenia in COVID-19 Patients?","authors":"Barbara Steinlechner,&nbsp;Gabriele Kargl,&nbsp;Christine Schlömmer,&nbsp;Caroline Holaubek,&nbsp;Georg Scheriau,&nbsp;Sabine Eichinger,&nbsp;Johannes Gratz,&nbsp;Bernhard Rössler","doi":"10.1155/2021/6624682","DOIUrl":"https://doi.org/10.1155/2021/6624682","url":null,"abstract":"<p><p>Extracorporeal membrane oxygenation (ECMO) is often used in the management of COVID-19-related severe respiratory failure. We report the first case of a patient with COVID-19-related ARDS on ECMO support who developed symptoms of heparin-induced thrombocytopenia (HIT) in the absence of heparin therapy. A low platelet count of 61 G/L was accompanied by the presence of circulating HIT antibodies 12 days after ECMO initiation. Replacement of the ECMO system including cannulas resulted in the normalization of the platelet count. However, the clinical situation did not improve, and the patient died 9 days later. Careful consideration of anticoagulant therapy and ECMO circuit, as well as routine HIT antibody testing, may prevent a fatal course in ECMO-supported COVID-19 patients.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8184338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39058187","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
Collagenous Gastritis in Primary Selective IgM Deficiency: Transition to EBV+ Gastric Adenocarcinoma. 原发性选择性IgM缺乏的胶原性胃炎:向EBV+胃腺癌的转变。
IF 1
Case Reports in Immunology Pub Date : 2021-05-25 eCollection Date: 2021-01-01 DOI: 10.1155/2021/5574944
Tejal Narsai, Houfen Su, David Braxton, Sudhir Gupta
{"title":"Collagenous Gastritis in Primary Selective IgM Deficiency: Transition to EBV+ Gastric Adenocarcinoma.","authors":"Tejal Narsai,&nbsp;Houfen Su,&nbsp;David Braxton,&nbsp;Sudhir Gupta","doi":"10.1155/2021/5574944","DOIUrl":"https://doi.org/10.1155/2021/5574944","url":null,"abstract":"<p><p>Selective IgM deficiency (SIgMD) and isolated collagenous gastritis are two independent rare disorders. Our purpose is to report the 1<sup>st</sup> case of SIgMD and isolated collagenous gastritis and collagenous gastritis that has transitioned to EBV + gastric adenocarcinoma. Gastric biopsy tissue was analyzed by EBV-related encoded RNA in situ hybridization assay. Subsets of CD4, CD8, T follicular helper cells (T<sub>FH</sub>), and members of the \"regulatory lymphocytes club\" were measured with multiple panels of monoclonal antibodies and isotype controls by multicolor flow cytometry. The patient was diagnosed with SIgMD (extremely low serum IgM 9 mg/dl and normal IgG and IgA and exclusion of secondary causes of low IgM). Soon after SIgMD diagnosis, the patient developed collagenous gastritis and, 8 years later, developed gastric adenocarcinoma that was positive for EBV. An extensive immunological analysis revealed reduced naïve CD4 and CD8 effector memory T cells and increased naïve and central memory CD8 T cells. Among the circulating follicular helper T cells (cT<sub>FH</sub>), T<sub>FH</sub>1 and T<sub>FH</sub>2 were increased whereas T<sub>FH</sub>17 was decreased. CD4 Treg cells and T<sub>FR</sub> cells were increased, whereas Breg and CD8 Treg were comparable to control. In conclusion, SIgMD may be associated with isolated collagenous gastritis, and collagenous gastritis may transition to EBV + gastric adenocarcinoma. A role of regulatory lymphocytes in gastric cancer is discussed.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39090601","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: 3
Henoch-Schönlein Purpura Associated with Lung Cancer: When Paraneoplastic Manifestations Impede Oncological Management. Henoch-Schönlein紫癜与肺癌:当副肿瘤表现阻碍肿瘤治疗。
IF 1
Case Reports in Immunology Pub Date : 2021-02-06 eCollection Date: 2021-01-01 DOI: 10.1155/2021/8847017
Éloïse Philippe, Aude Barnier, Juliette Menguy, Gilles Robinet, Gilles Quéré, Francis Couturaud, Renaud Descourt
{"title":"Henoch-Schönlein Purpura Associated with Lung Cancer: When Paraneoplastic Manifestations Impede Oncological Management.","authors":"Éloïse Philippe,&nbsp;Aude Barnier,&nbsp;Juliette Menguy,&nbsp;Gilles Robinet,&nbsp;Gilles Quéré,&nbsp;Francis Couturaud,&nbsp;Renaud Descourt","doi":"10.1155/2021/8847017","DOIUrl":"https://doi.org/10.1155/2021/8847017","url":null,"abstract":"<p><strong>Background: </strong>Henoch-Schönlein purpura (HSP) is an uncommon syndrome that mostly occurs in children, in whom it is frequently triggered by infections. In contrast, HSP in adults is more frequently of neoplastic origin. <i>Case Presentation</i>. We report HSP associated with a locally advanced lung squamous cell carcinoma that was considered a paraneoplastic syndrome. Systemic corticosteroids were given because a kidney biopsy revealed active glomerulonephritis. Concomitant chemoradiotherapy achieved a partial response of the lung tumor. Consolidation immunotherapy (programmed death protein-1-ligand-1 (PD-L1) inhibitor) was cancelled because HSP is known to be an autoimmune vasculitis, and long-term corticosteroid therapy was pursued.</p><p><strong>Conclusion: </strong>Further prospective studies are needed to evaluate the effect of anti-PD-(L) 1 immunotherapies on autoimmune manifestations.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7884136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25402470","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
Erratum to "Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome". “Omalizumab对il -21诱导的高ige综合征低stat3磷酸化的部分和短暂临床反应”的更正。
IF 1
Case Reports in Immunology Pub Date : 2021-01-31 eCollection Date: 2021-01-01 DOI: 10.1155/2021/2361360
Cesar Daniel Alonso-Bello, María Del Carmen Jiménez-Martínez, María Eugenia Vargas-Camaño, Sagrario Hierro-Orozco, Mario Alberto Ynga-Durand, Laura Berrón-Ruiz, Julio César Alcántara-Montiel, Leopoldo Santos-Argumedo, Diana Andrea Herrera-Sánchez, Fernando Lozano-Patiño, María Isabel Castrejón-Vázquez
{"title":"Erratum to \"Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome\".","authors":"Cesar Daniel Alonso-Bello,&nbsp;María Del Carmen Jiménez-Martínez,&nbsp;María Eugenia Vargas-Camaño,&nbsp;Sagrario Hierro-Orozco,&nbsp;Mario Alberto Ynga-Durand,&nbsp;Laura Berrón-Ruiz,&nbsp;Julio César Alcántara-Montiel,&nbsp;Leopoldo Santos-Argumedo,&nbsp;Diana Andrea Herrera-Sánchez,&nbsp;Fernando Lozano-Patiño,&nbsp;María Isabel Castrejón-Vázquez","doi":"10.1155/2021/2361360","DOIUrl":"https://doi.org/10.1155/2021/2361360","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1155/2019/6357256.].</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895602/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25402469","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
Fish Tank Granuloma Presenting as a Nasal Cavity Mass. 鱼缸肉芽肿表现为鼻腔肿块。
IF 1
Case Reports in Immunology Pub Date : 2021-01-12 eCollection Date: 2021-01-01 DOI: 10.1155/2021/8820720
Motoki Sekine, Fumiyuki Goto, Kosuke Saito, Shoji Kaneda, Hikaru Yamamoto, Tomoaki Murakami, Takahide Hamano, Kenji Okami
{"title":"Fish Tank Granuloma Presenting as a Nasal Cavity Mass.","authors":"Motoki Sekine,&nbsp;Fumiyuki Goto,&nbsp;Kosuke Saito,&nbsp;Shoji Kaneda,&nbsp;Hikaru Yamamoto,&nbsp;Tomoaki Murakami,&nbsp;Takahide Hamano,&nbsp;Kenji Okami","doi":"10.1155/2021/8820720","DOIUrl":"https://doi.org/10.1155/2021/8820720","url":null,"abstract":"<p><p><i>Mycobacterium marinum</i> is a free-living nontuberculous mycobacterium that is widely distributed in freshwater and seawater around the world. Granulomatous skin infection from <i>M. marinum</i> in people who are exposed to fish or aquatic environments is a rare condition known as fish tank granuloma. The granuloma mainly occurs on the skin of the upper limb, in a few cases on the face, and rarely in the nasal cavity. We describe a case of <i>M. marinum</i> infection that presented as a nasal cavity mass. A 57-year-old woman who was receiving infliximab for psoriatic arthritis visited our hospital with a complaint of right nasal obstruction. A granulomatous mass with an irregular surface was found in the anterior part of the right nasal cavity. Tissue biopsy revealed granulation tissue. Since the application of steroid ointment did not reduce the size of the mass, the tumor was resected under local anesthesia, and the base was cauterized. The pathological finding was an inflammatory granuloma with negative Ziehl-Neelsen staining. The granuloma recurred 3 months after resection. The interferon-gamma release assay (IGRA) test was positive, and therefore, a mycobacterial tissue culture test was performed because of suspected nasal tuberculosis, which identified <i>M. marinum</i>. The nasal cavity mass disappeared 2 months after the administration of minocycline, followed by clarithromycin, and subsequent discontinuation of infliximab. <i>M. marinum</i> infection can cause an intranasal mass. IGRA and the mycobacterial tissue culture test are useful for diagnosis. As in this case, the nasal lesion may be excised as an inflammatory nasal granuloma, and therefore, there may be many more \"hidden\" cases of <i>M. marinum</i> infection. If nasal granulation is present, the possibility of <i>M. marinum</i> infection should be considered.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7815405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38874206","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
Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases. 重组激活基因2新突变所致严重联合免疫缺陷障碍约2例
IF 1
Case Reports in Immunology Pub Date : 2021-01-07 eCollection Date: 2021-01-01 DOI: 10.1155/2021/8819368
Ibtihal Benhsaien, Fatima Ailal, Khadija Elazhary, Jalila El Bakkouri, Abdallah Badou, Ahmed Aziz Bousfiha
{"title":"Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases.","authors":"Ibtihal Benhsaien,&nbsp;Fatima Ailal,&nbsp;Khadija Elazhary,&nbsp;Jalila El Bakkouri,&nbsp;Abdallah Badou,&nbsp;Ahmed Aziz Bousfiha","doi":"10.1155/2021/8819368","DOIUrl":"https://doi.org/10.1155/2021/8819368","url":null,"abstract":"<p><p>Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal, and opportunistic infections with life-threatening in the absence of hematopoietic stem cell transplantation. We report here two cases of SCID. The first case is a girl diagnosed with SCID at birth based on her family history and lymphocyte subpopulation typing. The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808801/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38874205","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
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