LymphoSign Journal-The Journal of Inherited Immune Disorders最新文献_第3页

2022 Canadian Resource Guides for Individuals and Families Affected by Primary Immunodeficiency 2022加拿大原发性免疫缺陷患者资源指南

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2022-02-27 DOI: 10.14785/lymphosign-2022-0003

W. Shama

引用次数: 0

A Novel mutation in TRAC in A Patient with Abnormal Newborn Screening for Severe Combined Immunodeficiency 新生儿严重联合免疫缺陷筛查异常患者TRAC的一个新突变

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2022-02-25 DOI: 10.14785/lymphosign-2022-0001

Jenny Garkaby, Laura Abrego Fuentes, Jessica Willett-Pachul, Abby Watts-Dickens, Meghan Fraser

{"title":"A Novel mutation in TRAC in A Patient with Abnormal Newborn Screening for Severe Combined Immunodeficiency","authors":"Jenny Garkaby, Laura Abrego Fuentes, Jessica Willett-Pachul, Abby Watts-Dickens, Meghan Fraser","doi":"10.14785/lymphosign-2022-0001","DOIUrl":"https://doi.org/10.14785/lymphosign-2022-0001","url":null,"abstract":"Background: The T cell receptor (TCR) α subunit plays a key role in the TCR structure and its function. Biallelic mutations in the TCR-α subunit constant gene (TRAC) obliterated T cell receptor expression and results in immunodeficiency. TRAC deficiency presents at infancy or childhood with repeated viral and bacterial infections, enlarged liver, spleen, and lymph nodes as well as autoimmune features and lymphoma (OMIM #615387). Aim: To broaden the genotypic and phenotypic spectrum of TRAC deficiency. Methods: Case report of a patient with severe combined immunodeficiency (SCID) due to a novel autosomal recessive mutation in TRAC. Results: Our patient was identified at 13 days of life due to abnormal T cell receptor excision circle levels detected in newborn screening (NBS). Immune evaluation revealed profound lymphopenia, depressed responses to the mitogen PHA and a skewed T cell repertoire, all consistent with SCID. The patient was found to carry a novel homozygous mutation in the TRAC gene. Conclusion: A novel homozygous mutation in the TRAC gene caused profound T cell lymphopenia and aberrant in vitro mitogenic response, the hallmarks of SCID. Statement of Novelty: TCR-alpha chain (TRAC) deficiency is a rare and relatively new condition and not very well defined. We herein report a novel mutation in TRAC resulting in SCID.","PeriodicalId":53881,"journal":{"name":"LymphoSign Journal-The Journal of Inherited Immune Disorders","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42706140","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: 0

Novel mutation in PIK3CD affecting the Ras-binding domain PIK3CD中影响Ras结合结构域的新突变

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2022-02-23 DOI: 10.14785/lymphosign-2022-0002

Laura Abrego Fuentes, Jenny Garkaby, O. Scott, Jessica Willett-Pachul, H. Dadi, Vong Linda

{"title":"Novel mutation in PIK3CD affecting the Ras-binding domain","authors":"Laura Abrego Fuentes, Jenny Garkaby, O. Scott, Jessica Willett-Pachul, H. Dadi, Vong Linda","doi":"10.14785/lymphosign-2022-0002","DOIUrl":"https://doi.org/10.14785/lymphosign-2022-0002","url":null,"abstract":"Introduction: The PI3K pathway plays critical roles in diverse cellular processes, including differentiation, proliferation, motility, survival, and growth. PI3Kδ, comprised of the catalytic subunit p110δ and regulatory subunit p85α, is essential for normal lymphocyte and myeloid development and function. Gain-of-function mutations in PIK3CD (encoding p110δ) cause a combined immunodeficiency known as activated PI3Kδ syndrome (APDS), in which patients frequently present with recurrent respiratory infections and associated lung damage, severe recurrent (or persistent) infections with herpes family viruses, and lymphadenopathy. Aim: To describe the clinical presentation, immune evaluation, and genetic work-up of 2 patients (daughter and mother) with recurrent sinopulmonary, soft tissue, and skin infections. Results: Both daughter and mother presented with recurrent sinopulmonary, soft tissue and skin infections caused by atypical bacteria. Immune evaluation of the daughter revealed intermittent hypogammaglobulinemia and abnormal specific vaccine responses, while immune parameters of her mother were normal. Whole exome sequencing identified a novel mutation in PIK3CD (NM_005026), c.C719T, resulting in p.T240M. Western blot analysis of downstream AKT levels revealed increased basal phosphorylation, in line with gain-of-function mutations of PIK3CD. Conclusion: The novel missense mutation in PIK3CD occurs in the region encoding the Ras-binding domain (RBD) of p110δ, and likely alters the structural configuration of the domain. To date, pathogenic mutations targeting the RBD of p110δ have not yet been described. Our results expand on the known genotype-phenotype of APDS.","PeriodicalId":53881,"journal":{"name":"LymphoSign Journal-The Journal of Inherited Immune Disorders","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46568112","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: 0

Case Report of a Novel Mutation in Bruton Tyrosine Kinase Gene with Confirmed Agammaglobulinemia and Absent B Lymphocytes. 布鲁顿酪氨酸激酶基因的一个新突变与确诊的无丙种球蛋白血症和B淋巴细胞缺失的病例报告。

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2022-02-15 DOI: 10.14785/lymphosign-2021-0029

Nouf Bedaiwy, Shatha Alhamdi, Wafaa Alsuwairi, Mohammad Alsalamah

{"title":"Case Report of a Novel Mutation in Bruton Tyrosine Kinase Gene with Confirmed Agammaglobulinemia and Absent B Lymphocytes.","authors":"Nouf Bedaiwy, Shatha Alhamdi, Wafaa Alsuwairi, Mohammad Alsalamah","doi":"10.14785/lymphosign-2021-0029","DOIUrl":"https://doi.org/10.14785/lymphosign-2021-0029","url":null,"abstract":"Abstract Background: X-linked agammaglobulinemia type 1 or XLA is one of the most common pediatric inborn errors of immunity affecting the humoral immune system. The condition is caused by a mutation in the Bruton tyrosine kinase gene (BTK), located in the long arm of the X-chromosome. BTK is crucial for B lymphocyte differentiation and activation. Therefore, a defect in BTK results in B lymphocytes maturation arrest, absence of plasma cells, and failure of immunoglobulins (Igs) production. XLA affected individuals present with a history of frequent sever pyogenic infections such as pneumonia, conjunctivitis, otitis media, and bacteremia. Laboratory evaluation classically reveals undetectable Igs and the absence of B-cells. The mainstay treatment is immunoglobulins replacement which can be administered intravenously (IVIG) or subcutaneously (SCIG). In addition to, aggressive antimicrobial treatment to reduce complications such as bronchiectasis or invasive bacterial infections during active infections. Aim: To report the clinical presentation, immune features, and genetic mutation in one case of a four-year-old boy with a novel mutation in the BTK gene leading to XLA. Results: The Patient’s chart was reviewed. We describe the phenotypical and diagnostic characteristics of an established case in a four-year-old boy who suffered from recurrent infections. The genetic reading report revealed a pathogenic novel mutation in the BTK gene (c.1953C>A: p Tyr651*), and the flow-cytometry result of 0% C19+ (B-cells), and low Is serum levels. Discussion: We report the clinical presentation, immune features, and genetic mutation in a patient with novel mutations in the BTK gene causing XLA. Genetic analysis along with patient history and physical examination and laboratory results are necessary to identify and diagnose XLA with pathogenic mutation in the BTK gene.","PeriodicalId":53881,"journal":{"name":"LymphoSign Journal-The Journal of Inherited Immune Disorders","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41958683","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: 0

Abstracts from the Immunodeficiency Canada—9th SCID Symposium, 28 October 2021 加拿大免疫缺陷研究所摘要——第九届SCID研讨会，2021年10月28日

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2021-12-01 DOI: 10.14785/lymphosign-2021-0028

引用次数: 1

Unique presentations of the post COVID-19 infection, multisystem inflammatory syndrome in children. 新冠肺炎感染后儿童多系统炎症综合征的独特表现。

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2021-11-10 DOI: 10.14785/lymphosign-2021-0027

A. Nahum, Keren Rochwerger-Biham

{"title":"Unique presentations of the post COVID-19 infection, multisystem inflammatory syndrome in children.","authors":"A. Nahum, Keren Rochwerger-Biham","doi":"10.14785/lymphosign-2021-0027","DOIUrl":"https://doi.org/10.14785/lymphosign-2021-0027","url":null,"abstract":"Introduction: The epidemic of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), causing COVID-19, continuous to affect most of the world's population. In children, the respiratory and systemic involvement appears to have a much more benign course in comparison to adults, with almost no fatalities reported. However, we are encountering a post-infectious immune mediated condition, termed, multisystem inflammatory syndrome in children (MIS-C). In most cases the main features are prolonged fever and elevation of inflammatory markers, many of the patients present with abdominal pain and varying degree of myocardial involvement from mild reduction in cardiac output to the most alarming manifestation of cardiovascular shock. Results: We present two patients with unusual manifestations of MIS-C, related to post COVID-19 infection, an infant born to a mother who was severely ill at the very end of pregnancy, presenting with prolonged fever, rash, pericardial effusion, and evidence of coronary arteries wall thickening as a result of inflammation, and, a teenage girl with severe cardiac tamponade without the more common cardiac manifestations of myocardial involvement. Discussion: Post COVID-19 MIS-C can present in a wide variety of manifestations. The pathophysiologic mechanism underlying these inflammatory responses in infants are yet to be elucidated. Physicians should be aware of such presentations since rapid diagnosis and treatment are key for favorable outcome.","PeriodicalId":53881,"journal":{"name":"LymphoSign Journal-The Journal of Inherited Immune Disorders","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2021-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48829142","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: 0

Elevated serum gamma globulins in apparently healthy Nigerians living in Ogbomoso: A possible manifestation of phagocytic dysfunction Ogbomoso明显健康的尼日利亚人血清γ球蛋白升高：吞噬功能障碍的可能表现

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2021-08-27 DOI: 10.14785/lymphosign-2021-0024

A. Adedeji, Dauda Jimoh, Badmus Jelili Abiodun, Ibrahim O. Bello, I. Suleiman, O. G. Ayelagbe

{"title":"Elevated serum gamma globulins in apparently healthy Nigerians living in Ogbomoso: A possible manifestation of phagocytic dysfunction","authors":"A. Adedeji, Dauda Jimoh, Badmus Jelili Abiodun, Ibrahim O. Bello, I. Suleiman, O. G. Ayelagbe","doi":"10.14785/lymphosign-2021-0024","DOIUrl":"https://doi.org/10.14785/lymphosign-2021-0024","url":null,"abstract":"Background: Serum protein electrophoresis abnormalities, particularly elevated gamma globulins (hypergammaglobulinemia), have been reported in apparently healthy Nigerians living in Ogbomoso and elsewhere. Since the mechanisms for this phenomenon have not been fully substantiated, we hypothesized that impaired neutrophil phagocytosis could contribute to this condition. Methods: Healthy humans exhibiting hypergammaglobulinemia (HGG) were identified using serum protein electrophoresis (SPE) performed on cellulose acetate gel in barbital buffer (pH 8.6). GelQuant image analysis and quantitation software were further employed to quantify gamma globulin fraction. Neutrophils were isolated from K3EDTA anticoagulated peripheral blood using neutrophil isolation histopaque of Kayman Chemical, USA. Neutrophil phagocytic activity was analyzed using a non-subjective commercial colorimetric phagocytosis assay kit obtained from Cell-Biolab Inc, USA. Results: The purity and viability of isolated neutrophils were approximately 94 % and 92 %, respectively. Ex-vivo phagocytic activity of neutrophils isolated from apparently healthy subjects exhibiting HGG, expressed in absorbance unit (AU), was 48.1±8.6 % which was significantly lower (p<0.05); compared to the controls (98.9±14.3 %). Conclusion: Since neutrophils play crucial roles in innate immune responses, impairment of neutrophil phagocytic activity may lead to persistent antigenic stimulations of the adaptive immune system. This could in turn orchestrate γ-globulins expression leading to HGG. Statement of novelty: We demonstrated a reduced neutrophil phagocytic activity as a possible basis for hypergammaglobulinemia in healthy Nigerians, perhaps for the first time.","PeriodicalId":53881,"journal":{"name":"LymphoSign Journal-The Journal of Inherited Immune Disorders","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2021-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42486995","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: 0

Wiskott Aldrich syndrome caused by a novel mutation in WASP gene presenting with a mild phenotype 由WASP基因突变引起的Wiskott Aldrich综合征表现为轻度表型

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2021-08-20 DOI: 10.14785/lymphosign-2021-0022

Jenny Garkaby, J. Upton

{"title":"Wiskott Aldrich syndrome caused by a novel mutation in WASP gene presenting with a mild phenotype","authors":"Jenny Garkaby, J. Upton","doi":"10.14785/lymphosign-2021-0022","DOIUrl":"https://doi.org/10.14785/lymphosign-2021-0022","url":null,"abstract":"Background: Wiskott–Aldrich syndrome (WAS) is X-linked recessive disorder associated with combined immunodeficiency, microthrombocytopenia, eczema, and an increased risk of autoimmunity and cancer. Aim: To report the clinical presentation, immune features, and genetic mutation in a patient with a novel mutation in the WASP gene causing a mild phenotype of Wiskott Aldrich syndrome Methods: Patient’s chart was reviewed. We report the phenotypical and laboratory characteristics of a patient with a mild phenotype of Wiskott Aldrich syndrome with a novel mutation found by WASP gene sequence analysis. Results: This patient presented with thrombocytopenia and 3 episodes of otitis media at 24 months of age, with no other significant manifestations suggestive of immunodeficiency or immune dysregulation. A missense mutation was found in exon 12 of WASP gene, C1498>T, leading to a Trp500Arg amino acid change. Currently he is 15 years old and remained in good health, free of infections or other complication to date. Conclusion: Genetic analysis is helpful for the diagnosis of WAS patients; our patient’s mutation was found to cause a mild phenotype of WAS. Statement of Novelty: We describe a patient with a mild phenotype of WAS with a novel mutation in the WASP gene, thus, expanding the spectrum of WASP gene mutations.","PeriodicalId":53881,"journal":{"name":"LymphoSign Journal-The Journal of Inherited Immune Disorders","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2021-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45189541","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: 1

Children should be offered vaccination against COVID-19 应为儿童接种COVID-19疫苗

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2021-08-20 DOI: 10.14785/lymphosign-2021-0025

C. Roifman, L. Vong

引用次数: 1

COVID-19 post-vaccination recommendations for primary immunodeficiency COVID-19疫苗接种后对原发性免疫缺陷的建议

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LymphoSign Journal-The Journal of Inherited Immune Disorders Pub Date : 2021-08-13 DOI: 10.14785/lymphosign-2021-0023

C. Roifman, L. Vong

引用次数: 2