Pediatric Allergy and Immunology最新文献

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Childhood PUFA levels in relation to allergic sensitization and rhinitis up to young adulthood. 儿童时期的 PUFA 水平与过敏致敏和鼻炎直至青年时期的关系。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.70001
Sandra Ekström, Emmanouela Sdona, Susanna Klevebro, Marit Westman, Marianne van Hage, Antonios Georgelis, Inger Kull, Erik Melén, Ulf Risérus, Anna Bergström
{"title":"Childhood PUFA levels in relation to allergic sensitization and rhinitis up to young adulthood.","authors":"Sandra Ekström, Emmanouela Sdona, Susanna Klevebro, Marit Westman, Marianne van Hage, Antonios Georgelis, Inger Kull, Erik Melén, Ulf Risérus, Anna Bergström","doi":"10.1111/pai.70001","DOIUrl":"https://doi.org/10.1111/pai.70001","url":null,"abstract":"<p><strong>Background: </strong>Very long-chain (VLC) polyunsaturated fatty acids (PUFA) have been hypothesized to influence the risk of allergic disease. The aim of the study was to investigate the role of plasma levels of omega-3 (n-3) and omega-6 (n-6) PUFA in childhood and adolescence, for the development of rhinitis and allergic sensitization up to young adulthood.</p><p><strong>Methods: </strong>The study included n = 933 participants from the BAMSE cohort. Proportions of n-3 and n-6 PUFA in plasma phospholipids were analyzed at 8 and 16 years using gas chromatography. Associations between PUFA and rhinitis as well as allergic sensitization, analyzed by IgE reactivity against airborne allergens, up to age 24 years were analyzed by generalized estimating equations and logistic regression models.</p><p><strong>Results: </strong>High plasma levels of VLC n-3 PUFA as well as the n-6 PUFA arachidonic acid (AA) at 8 years were inversely associated with rhinitis (overall OR up to 24 years: 0.72, 95% CI 0.55, 0.0.93 and 0.69 [0.53, 0.89], respectively) and aeroallergen sensitization (0.64 [0.49, 0.83] and 0.71 [0.54, 0.92], respectively). However, excluding prevalent cases at 8 years attenuated the associations.</p><p><strong>Conclusion: </strong>Plasma levels of n-3 and certain n-6 PUFA in childhood were inversely associated with allergic sensitization and allergic rhinitis up to young adulthood. The association may to some extent be explained by persistent childhood disease, rather than new incident cases in adolescence and young adulthood. To what extent these associations are driven by dietary PUFA intake versus metabolism remains to be clarified for the prevention of rhinitis and allergic sensitization.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e70001"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Editorial comments on "Risk and protective factors of asthma and mental health condition multimorbidity in a national sample of Canadian children". 关于 "加拿大全国儿童样本中哮喘和精神健康状况多病性的风险和保护因素 "的编辑评论。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.14270
Ozge Can Bostan, Kalliopi Karipidi, Ömer Kalayci, Philippe Eigenmann
{"title":"Editorial comments on \"Risk and protective factors of asthma and mental health condition multimorbidity in a national sample of Canadian children\".","authors":"Ozge Can Bostan, Kalliopi Karipidi, Ömer Kalayci, Philippe Eigenmann","doi":"10.1111/pai.14270","DOIUrl":"https://doi.org/10.1111/pai.14270","url":null,"abstract":"","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e14270"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of parental self-efficacy in managing child food-induced anaphylaxis and using adrenaline autoinjectors. 评估家长在处理儿童食物引起的过敏性休克和使用肾上腺素自动注射器方面的自我效能。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.14265
Laura Polloni, Ileana Baldi, Sara Bianconi, Margherita Amadi, Valentina Tonazzo, Roberta Bonaguro, Francesca Lazzarotto, Alice Toniolo, Laura Morandini, Rossana Schiavo, Antonella Muraro
{"title":"Assessment of parental self-efficacy in managing child food-induced anaphylaxis and using adrenaline autoinjectors.","authors":"Laura Polloni, Ileana Baldi, Sara Bianconi, Margherita Amadi, Valentina Tonazzo, Roberta Bonaguro, Francesca Lazzarotto, Alice Toniolo, Laura Morandini, Rossana Schiavo, Antonella Muraro","doi":"10.1111/pai.14265","DOIUrl":"https://doi.org/10.1111/pai.14265","url":null,"abstract":"<p><strong>Background: </strong>Anaphylaxis is a life-threatening allergic reaction, associated with mental health burden in patients and caregivers. Intramuscular adrenaline via autoinjector (AAI) is the recommended treatment for the management of anaphylaxis in non-hospital settings; however, AAIs are underused. This study aimed to assess parental self-efficacy in managing child's anaphylaxis and administering AAI to understand how to effectively support families.</p><p><strong>Methods: </strong>Seventy-five parents of children with severe food allergy completed a questionnaire to measure parental self-efficacy in managing child food-induced anaphylaxis (PSEMA). We conducted an exploratory factor analysis with 12 items, using principal axis factoring as the extraction method. We used Cronbach's alpha to assess the internal consistency of the factors. We used the Anderson-Rubin approach to estimate the factors' scores and provide a kernel density estimate of their distributions. An assessment through linear regression between the total factors' score and total score was performed.</p><p><strong>Results: </strong>A five-factor model was identified. The factors that emerged were conceptually related to \"F1. Manage Injection,\" \"F2. Manage AAI Device,\" \"F3. Manage Anaphylaxis,\" \"F4. Manage Emergency,\" and \"F5. Manage Emotions.\" The questionnaire demonstrated high internal consistency, with a Cronbach's alpha of 0.91 (95% CI: 0.87-0.94) The variation in the total score explained 90% of the variation in the factor score.</p><p><strong>Conclusions: </strong>The PSEMA questionnaire promises to be an easy and effective tool for measuring parents' self-efficacy in managing anaphylaxis and AAI, allowing clinicians to identify gaps in education and provide effective training.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e14265"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Chinese expert consensus on allergen component resolved diagnosis. 中国专家就过敏原成分诊断达成共识。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.14272
Wenting Luo, Hao Chen, Lei Cheng, Yubao Cui, Yinshi Guo, Zhongshan Gao, Kai Guan, Kun Han, Haiyu Hong, Kunmei Ji, Jing Li, Guanghui Liu, Juan Meng, Jin-Lyu Sun, Ailin Tao, Wei Tang, Huiying Wang, Xiaoyan Wang, Jifu Wei, Xuejun Shao, Li Xiang, Stephen Kwok-Wing Tsui, Huanping Zhang, Yongmei Yu, Lan Zhao, Zhifeng Huang, Hui Gan, Jiale Zhang, Xianhui Zheng, Peiyan Zheng, Huimin Huang, Chuangli Hao, Rongfei Zhu, Baoqing Sun
{"title":"Chinese expert consensus on allergen component resolved diagnosis.","authors":"Wenting Luo, Hao Chen, Lei Cheng, Yubao Cui, Yinshi Guo, Zhongshan Gao, Kai Guan, Kun Han, Haiyu Hong, Kunmei Ji, Jing Li, Guanghui Liu, Juan Meng, Jin-Lyu Sun, Ailin Tao, Wei Tang, Huiying Wang, Xiaoyan Wang, Jifu Wei, Xuejun Shao, Li Xiang, Stephen Kwok-Wing Tsui, Huanping Zhang, Yongmei Yu, Lan Zhao, Zhifeng Huang, Hui Gan, Jiale Zhang, Xianhui Zheng, Peiyan Zheng, Huimin Huang, Chuangli Hao, Rongfei Zhu, Baoqing Sun","doi":"10.1111/pai.14272","DOIUrl":"10.1111/pai.14272","url":null,"abstract":"<p><strong>Background: </strong>Allergen component resolved diagnosis (CRD) is a method for identifying specific protein molecules that cause hypersensitivity. Unlike traditional methods that use crude allergen extracts containing multiple component species, CRD focuses on individual allergen protein molecules for more precise diagnosis. The World Allergy Organization (WAO) recommends CRD as a supplement to clinical history and allergen extract testing, and in some cases, it can replace crude extract tests.</p><p><strong>Methods: </strong>CRD involves the use of natural or recombinant proteins to detect specific IgE antibodies directed at individual allergenic components. This method allows for a more detailed analysis of a patient's allergic response compared to the use of whole allergen extracts. The Allergy Prevention and Control Specialty Committee of the Chinese Preventive Medicine Association, in collaboration with multidisciplinary experts, developed an expert consensus that incorporates the consensus of the European Academy of Allergy and Clinical Immunology (EAACI), WAO, and important domestic literature on CRD in recent years.</p><p><strong>Results: </strong>The consensus aims to standardize the algorithm of allergen diagnosis and provides a reference for clinical practice. It also offers guidance for clinicians on the common protein families identified by CRD, the scenarios where CRD is applicable, and the significance of detecting common allergen components.</p><p><strong>Conclusions: </strong>Despite its potential, CRD is not widely used in clinical practice in China due to the lack of allergen component reagents and a general unawareness among clinicians about CRD's application and interpretation of test results. The expert consensus developed by the Chinese Preventive Medicine Association aims to address this gap and enhance the clinical application of CRD in China.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e14272"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Editorial comment "Effect of maternal prebiotic supplementation on human milk immunological composition: Insights from the SYMBA study". 编辑评论 "母体补充益生元对母乳免疫成分的影响:来自 SYMBA 研究的启示"。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.70000
Birgit Kalb, Bianca Olivieri, Agnes Leung, Philippe Eigenmann
{"title":"Editorial comment \"Effect of maternal prebiotic supplementation on human milk immunological composition: Insights from the SYMBA study\".","authors":"Birgit Kalb, Bianca Olivieri, Agnes Leung, Philippe Eigenmann","doi":"10.1111/pai.70000","DOIUrl":"https://doi.org/10.1111/pai.70000","url":null,"abstract":"","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e70000"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rapid elimination diet for mild hematochezia in the well-being infant. 快速消除饮食治疗安康婴儿轻度血便。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.14269
Stefano Miceli Sopo, Marta Barbato, Francesco Mastellone, Mariannita Gelsomino, Giovanni Simeone, Chiara Condemi, Bruno Miceli Sopo, Giulia Bersani
{"title":"Rapid elimination diet for mild hematochezia in the well-being infant.","authors":"Stefano Miceli Sopo, Marta Barbato, Francesco Mastellone, Mariannita Gelsomino, Giovanni Simeone, Chiara Condemi, Bruno Miceli Sopo, Giulia Bersani","doi":"10.1111/pai.14269","DOIUrl":"https://doi.org/10.1111/pai.14269","url":null,"abstract":"","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e14269"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early age peanut oral immunotherapy is safe and effective at achieving desensitization in 27 pediatric patients with peanut allergy. 早期花生口服免疫疗法对 27 名花生过敏的儿科患者来说是安全有效的脱敏疗法。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.14273
Jonathan Hemler, Samantha Minnicozzi, Anne Carey, Karen Braden, Kelly Boyd
{"title":"Early age peanut oral immunotherapy is safe and effective at achieving desensitization in 27 pediatric patients with peanut allergy.","authors":"Jonathan Hemler, Samantha Minnicozzi, Anne Carey, Karen Braden, Kelly Boyd","doi":"10.1111/pai.14273","DOIUrl":"https://doi.org/10.1111/pai.14273","url":null,"abstract":"","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e14273"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
AAAAI-EAACI PRACTALL: Standardizing oral food challenges-2024 Update. AAAAI-EAACI PRACTALL:《口腔食物挑战标准化--2024 年更新》。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.14276
Hugh A Sampson, Stefania Arasi, Henry T Bahnson, Barbara Ballmer-Weber, Kirsten Beyer, Carsten Bindslev-Jensen, J Andrew Bird, Katarina Blumchen, Carla Davis, Motohiro Ebisawa, Anna Nowak-Wegrzyn, Nandinee Patel, Rachel L Peters, Scott Sicherer, Jonathan Spergel, Paul J Turner, Noriyuki Yanagida, Philippe A Eigenmann
{"title":"AAAAI-EAACI PRACTALL: Standardizing oral food challenges-2024 Update.","authors":"Hugh A Sampson, Stefania Arasi, Henry T Bahnson, Barbara Ballmer-Weber, Kirsten Beyer, Carsten Bindslev-Jensen, J Andrew Bird, Katarina Blumchen, Carla Davis, Motohiro Ebisawa, Anna Nowak-Wegrzyn, Nandinee Patel, Rachel L Peters, Scott Sicherer, Jonathan Spergel, Paul J Turner, Noriyuki Yanagida, Philippe A Eigenmann","doi":"10.1111/pai.14276","DOIUrl":"10.1111/pai.14276","url":null,"abstract":"<p><p>This common statement of the American Academy of Allergy, Asthma and Immunology (AAAAI) and The European Academy of Allergy and Clinical Immunology (EAACI) provides an update of the 2012 published guidelines on food challenges. The guidelines equally address food challenges in the research and the clinical settings. They first address the diagnostic tests which can guide the decision to conduct a challenge. Safety of food challenges is prime, and the various procedures and safety issues as well as medications potentially involved in challenges are extensively discussed. Challenges are suggested to be conducted with semi-logarithmic incremental doses based on the protein content, typically for IgE-mediated food allergy with intervals of 20-30 min between doses. Specific protocols for other types of reactions such atopic dermatitis or gastrointestinal food allergy are detailed separately. Proper stopping criteria are essential in order to reduce the risk of false-positive diagnoses, but also severe reactions. The guidelines recommend criteria based on \"go on,\" \"stop,\" or \"observation.\" These revised guidelines will clearly provide much needed guidance for food challenges in the research and clinical settings. They will continue to evolve with new diagnostic tests or new needs in the field of food allergy.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e14276"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142668528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between nasopharyngeal airway lipidome signatures of infants with severe bronchiolitis and risk of recurrent wheeze: A prospective multicenter cohort study. 严重支气管炎婴儿鼻咽气道脂质体特征与反复喘息风险之间的关系:一项前瞻性多中心队列研究。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.14274
Hideaki Miyachi, Ryohei Shibata, Heidi Makrinioti, Michihito Kyo, Carlos A Camargo, Zhaozhong Zhu, Kohei Hasegawa
{"title":"Association between nasopharyngeal airway lipidome signatures of infants with severe bronchiolitis and risk of recurrent wheeze: A prospective multicenter cohort study.","authors":"Hideaki Miyachi, Ryohei Shibata, Heidi Makrinioti, Michihito Kyo, Carlos A Camargo, Zhaozhong Zhu, Kohei Hasegawa","doi":"10.1111/pai.14274","DOIUrl":"10.1111/pai.14274","url":null,"abstract":"<p><strong>Background: </strong>Infants hospitalized for bronchiolitis are at high risk for developing recurrent wheeze in childhood. The role of airway lipids in the link between these two conditions remains unclear. This study aimed to identify the association between airway lipids in infants hospitalized for bronchiolitis and the development of recurrent wheeze, with a focus on immunoglobulin E (IgE) sensitization.</p><p><strong>Methods: </strong>In a multicenter prospective cohort study of 919 infants (age <1 year) hospitalized for bronchiolitis, we performed lipidomic profiling of nasopharyngeal airway specimens collected at hospitalization. We first identified lipid modules composed of highly correlated lipids by performing weighted correlation network analysis. We then examined the longitudinal association of those lipid modules with the rate of recurrent wheeze by age 3 years after discharge from hospitalization for bronchiolitis. We also examined the associations of lipid modules with IgE non-sensitized (i.e., neither sensitized at admission nor at age 3 years) and IgE-sensitized (i.e., sensitized at admission and/or at age 3 years) recurrent wheeze by age 3 years, respectively.</p><p><strong>Results: </strong>Our analysis identified 15 distinct lipid modules in the nasopharyngeal airway lipidome data. Overall, lipid modules composed of triacylglycerols (hazard ratio [HR] 1.78, 95% confidence interval [CI] 1.26-2.51, FDR < 0.01) and sphingolipids (HR 1.74, 95% CI 1.25-2.44, FDR <0.01) had the strongest associations with recurrent wheeze development. Stratification by IgE sensitization revealed differential associations. For example, the module composed of triacylglycerols was significantly associated with IgE non-sensitized recurrent wheeze, whereas the module composed of sphingolipids was significantly associated with IgE-sensitized recurrent wheeze (both FDR <0.05).</p><p><strong>Conclusion: </strong>Distinct nasopharyngeal airway lipid modules are associated with recurrent wheeze development following severe bronchiolitis, with different patterns based on IgE sensitization status.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e14274"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear. 部分白化病免疫缺陷患者的早期诊断:毛发研究和外周血涂片的作用。
IF 4.3 2区 医学
Pediatric Allergy and Immunology Pub Date : 2024-11-01 DOI: 10.1111/pai.14264
Shaghayegh Tajik, Mohammad Reza Fazlollahi, Zahra Alizadeh, Mohsen Badalzadeh, Massoud Houshmand, Anahita Razaghian, Seiamak Bahram, Anne Molitor, Raphael Carapito, Mansoureh Shariat, Amir Ali Hamidieh, Nasrin Behniafard, Babak Abdolkarimi, Tahereh Rostami, Mostafa Moin, Zahra Pourpak
{"title":"Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.","authors":"Shaghayegh Tajik, Mohammad Reza Fazlollahi, Zahra Alizadeh, Mohsen Badalzadeh, Massoud Houshmand, Anahita Razaghian, Seiamak Bahram, Anne Molitor, Raphael Carapito, Mansoureh Shariat, Amir Ali Hamidieh, Nasrin Behniafard, Babak Abdolkarimi, Tahereh Rostami, Mostafa Moin, Zahra Pourpak","doi":"10.1111/pai.14264","DOIUrl":"https://doi.org/10.1111/pai.14264","url":null,"abstract":"<p><strong>Background: </strong>Primary immunodeficiency diseases (inborn errors of immunity) with partial albinism are a group of autosomal recessive syndromes including Chediak Higashi Syndrome (CHS), Griscelli Syndrome type 2 (GS2), Hermansky-Pudlak Syndromes type 2 and 10 (HPS2, HPS10), Vici syndrome and P14/LAMTOR2 deficiency.</p><p><strong>Methods: </strong>Twenty-five patients including 10 CHS, 10 GS2, and 5 HPS2 were evaluated in this study within the last 10 years. Five cases with oculocutaneous albinism (OCA) and 5 healthy subjects without albinism were used as two control groups. Genetic analyses were performed by whole exome or panel sequencing or targeted Sanger sequencing. Subsequently, leukocyte granules in peripheral blood smear and hair shaft were examined as screening tests.</p><p><strong>Results: </strong>Giant granules were only presented in the leukocytes cytoplasm of 10/10 CHS patients. The uneven cluster of pigments and giant melanin granules in hair samples were observed in 10/10 GS2 and 10/10 CHS patients, respectively. In both 5/5 OCA and 5/5 HPS2 patients, there were regular pigments in the middle of hair shafts. Genetic analyses were performed for all patients, revealing 7 novel variants in LYST gene for CHS patients and 4 novel variants in AP3B1 for HPS2 patients.</p><p><strong>Conclusion: </strong>Receiving hematopoietic stem cell transplantation (HSCT) in a timely manner is crucial in CHS and GS2 patients; therefore, screening tests may provide a vital clue for early diagnosis in these patients. However, the final confirmation of CHS, GS2, and HPS2 disorders is done by genetic assay.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"35 11","pages":"e14264"},"PeriodicalIF":4.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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