Journal of Clinical Immunology最新文献

{"title":"Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency.","authors":"Rebecca B Walsh, Peter McNaughton, Zohreh Nademi, Alexandra Laberko, Dmitry Balashov, Hamoud Al-Mousa, Peter D Arkwright, Robert F Wynn, Terry Flood, Eleri Williams, Andrew Cant, Mario Abinun, Sophie Hambleton, Mary Slatter, Andrew R Gennery, Su Han Lum, Stephen Owens","doi":"10.1007/s10875-024-01850-2","DOIUrl":"https://doi.org/10.1007/s10875-024-01850-2","url":null,"abstract":"<p><p>Receptor Interacting Serine/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic stem cell transplantation (HSCT) has been suggested as a potential curative therapy, the extent to which disease may be driven by extra-hematopoietic effects of RIPK1-deficiency, which are non-amenable to HSCT, is not clear. We present a multi-centre, international review of an additional 5 RIPK1-deficient children who underwent HSCT. All patients presented with very early onset inflammatory bowel disease, 2 also suffered from inflammatory arthritis. Median age at transplant was 3 years (range 1-5 years); 1 received matched sibling marrow, 1 matched unrelated peripheral blood stem cells (PBSC), 2 TCRαβ/CD19-depleted PBSC from maternal-haploidentical donors, and 1 had TCRαβ/CD19-depleted PBSC from a mismatched unrelated donor. All received reduced-toxicity conditioning, based on treosulfan (n = 4) or busulfan (n = 1); 1 patient underwent a successful second transplant following autologous reconstitution. Four of five patients (80%) survived; 1 child died due to multi-drug resistant pseudomonas infection and multi-organ failure. With a median duration of 14 months follow-up, 2 survivors were disease-free, and 2 had substantially improving enteropathy. These findings demonstrated that HSCT is a potential curative therapy for RIPK1-deficiency.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"65"},"PeriodicalIF":7.2,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11703983/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI).","authors":"Thomas A Fox, Valerie Massey, Charley Lever, Rachel Pearce, Arian Laurence, Sarah Grace, Filippo Oliviero, Sarita Workman, Andrew Symes, David M Lowe, Valeria Fiaccadori, Rachael Hough, Susan Tadros, Siobhan O Burns, Markus G Seidel, Ben Carpenter, Emma C Morris","doi":"10.1007/s10875-024-01854-y","DOIUrl":"10.1007/s10875-024-01854-y","url":null,"abstract":"<p><p>Allogeneic haematopoietic stem cell transplantation (alloHSCT) is safe and effective for adolescents and adults with inborn errors of immunity (IEI) with severe disease manifestations of their disease. The haematopoietic cell transplantation comorbidity index (HCT-CI) score predicts transplant survival in non-malignant diseases, including IEIs. We hypothesised that immune dysregulation pre-transplant may also influence transplant outcomes. We calculated the pre-transplant immune dysregulation and disease activity score (IDDA v2.1) for 82 adolescent and adult IEI patients (aged ≥ 13 years). Three-year overall survival (OS) for the whole cohort was 90% (n = 82) with a median follow up of 44.7 months (range 8.4 to 225.8). Events were defined as acute graft-versus-host disease (GvHD) grades II or above, chronic GvHD of any grade, graft failure, or death from any cause. Three-year event free survival (EFS) for the whole cohort was 72%. In multivariable analysis the IDDA v2.1 score pre-transplant and HCT-CI score significantly impacted OS (hazard ratio 1.08, p = 0.028) and EFS (hazard ratio 1.04, p = 0.0005). Importantly, 35% of this cohort had a high IDDA v2.1 score (≥ 15) and low HCT-CI score (< 3) suggesting that the risks of alloHSCT may be underestimated in a proportion of patients with IEI if the HCT-CI score is used alone. These findings support the potential for improved outcomes following successful modulation of immune dysregulation pre-transplant. The IDDA v2.1 score has utility as an objective measurement of pre-transplant immune dysregulation providing additional information reagrding the risks and potential complications of alloHSCT in an individual IEI patient.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"64"},"PeriodicalIF":7.2,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11703937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?","authors":"Dharmagat Bhattarai, Aaqib Zaffar Banday, Sheetal Sharda, Pratap Kumar Patra, Jolan E Walter, Kathleen E Sullivan","doi":"10.1007/s10875-024-01856-w","DOIUrl":"10.1007/s10875-024-01856-w","url":null,"abstract":"<p><p>Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age. A novel frameshift termination variant near the protein's amino (N-) terminal was found. Variants in exon 1 of the TAP1 gene (as in our case) have not been reported previously. We also perform a brief review of TAP1D that hints at potential genotype-phenotype correlations. However, these findings need to be interpreted with due prudence given the small number of patients with TAP1D reported thus far.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"63"},"PeriodicalIF":7.2,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921870","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}

{"title":"Baricitinib-Induced Remission of Alopecia Universalis in a Child with NFKB2-Associated Immune Dysregulation.","authors":"C Blokhuis, T R Leahy, A D Irvine, F Browne, A M Flinn","doi":"10.1007/s10875-024-01852-0","DOIUrl":"https://doi.org/10.1007/s10875-024-01852-0","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"62"},"PeriodicalIF":7.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921859","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}

{"title":"Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity.","authors":"Sarina Nikzad, Rebekah Johnson, Christopher Scalchunes, Nicholas L Rider","doi":"10.1007/s10875-024-01855-x","DOIUrl":"10.1007/s10875-024-01855-x","url":null,"abstract":"<p><strong>Purpose: </strong>Patients with inborn errors of immunity (IEI) have lifelong health complications including severe infections and physical impairments. Previous studies show that a patient's perception of their health is an important predictor of health outcomes. The purpose of this study was to understand factors related to patient reported health status.</p><p><strong>Methods: </strong>We used data from the Immunodeficiency Foundation (IDF) 2017 National Patient Survey and analyzed factors which correlated with the reported health status (RHS). Among a cohort of 1139 self-reported IEI patients, we identified age at the time of diagnosis, time gap between symptom onset and diagnosis, number of physicians seen, and whether the diagnosis was made in the first 5 years of life as significant. We used a two-tailed t-test, single-factor ANOVA, and Tukey-Kramer post-hoc test to assess statistical significance in the observed difference.</p><p><strong>Results: </strong>Patients who received a diagnosis before the age of 12 had a significantly better mean RHS (n = 207 pre-12a vs. n = 900 post-12a; p < 0.0001). Patients who received a diagnosis within 10 years of symptom onset showed improved mean RHS (n = 413 pre-10 vs. n = 524 post-10; p < 0.0001). Among patients who had symptom onset within the first 5 years of life, those who received a diagnosis had a significantly improved RHS (3.5 ± 0.92, n = 275 undiagnosed vs. 2.8 ± 0.94, n = 108 diagnosed; p < 0.0001). Finally, RHS was significantly impacted by number of physicians(n ≥ 4) seen prior to diagnosis (3.1 ± 0.96 vs. 3.4 ± 0.80, p < 0.0001).</p><p><strong>Conclusion: </strong>These findings shed light upon critical factors which impact IEI patient RHS. Specifically, we find that efficient, rapid and early-life IEI identification should improve patient reported health and relevant outcomes. These improvements appear to be independent of the clinician specialty ultimately making the IEI diagnosis.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"61"},"PeriodicalIF":7.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11695393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anifrolumab in Monogenic Lupus caused by TREX1 Mutation.","authors":"Patricia Moran-Alvarez, Virginia Messia, Valentina Matteo, Francesca Soscia, Giusi Prencipe, Fabrizio De Benedetti, Antonella Insalaco","doi":"10.1007/s10875-024-01851-1","DOIUrl":"10.1007/s10875-024-01851-1","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"60"},"PeriodicalIF":7.2,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909640","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}

{"title":"Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series.","authors":"Hasan Hashem, Lubna Ghatasheh, Rula Najjar, Duaa Mufarrej, Duaa Zandaki, Mayada Abu Shanap, Eman Khattab, Rawad Rihani, Iyad Sultan","doi":"10.1007/s10875-024-01853-z","DOIUrl":"https://doi.org/10.1007/s10875-024-01853-z","url":null,"abstract":"<p><p>Inborn errors of immunity (IEI) are a heterogenous group of rare monogenic disorders that affect innate or adaptive immunity, resulting in susceptibility to life-threatening infections and autoimmunity. Allogeneic hematopoietic cell transplantation (HCT) is a valuable curative option for children with IEI. We conducted a retrospective single-center study on the outcome of HCT in children with IEI. Primary outcome was overall survival (OS). We gathered data from 55 patients underwent HCT in the period 2014 to 2023. The indications for HCT were CGD (n = 14), HLH (n = 12), SCID (n = 10), and others (n = 19). Median age at HCT was 3 years (range 0.1-17). Donors were HLA-matched related (n = 27), haploidentical (n = 24), and cord (n = 4). The conditioning regimens were myeloablative (n = 34), reduced intensity (n = 18), or no conditioning (n = 3). After a median follow-up of 43 months (range 13-120), 2-year OS was 93%, 2-year EFS 79% and 2 year GvHD-free relapse-free survival (GRFS) was 69%. Univariate analysis showed that bone marrow source was significantly associated with better EFS and GRFS. Cumulative incidence of grade 2-4 acute and moderate/severe chronic GvHD were 21% and 13%, respectively. Incidence of graft failure was 13%. In conclusion, HCT is feasible and curative in children with IEI. Early diagnosis and referral in addition to timely treatment can further improve outcomes.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"59"},"PeriodicalIF":7.2,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894882","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}

{"title":"Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.","authors":"Federica Barzaghi, Mattia Moratti, Giuseppina Panza, Beatrice Rivalta, Giuliana Giardino, Antonio De Rosa, Lucia Augusta Baselli, Matteo Chinello, Antonio Marzollo, Davide Montin, Maddalena Marinoni, Giorgio Costagliola, Silvia Ricci, Lorenzo Lodi, Baldassarre Martire, Cinzia Milito, Antonino Trizzino, Alberto Tommasini, Marco Zecca, Raffaele Badolato, Caterina Cancrini, Vassilios Lougaris, Claudio Pignata, Francesca Conti","doi":"10.1007/s10875-024-01835-1","DOIUrl":"10.1007/s10875-024-01835-1","url":null,"abstract":"<p><strong>Background: </strong>Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).</p><p><strong>Methods: </strong>Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.</p><p><strong>Results: </strong>Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes. The median age at diagnosis was 15.5 years, with a median follow-up of 74 months (range 6-384). The main presenting symptoms were respiratory tract infections alone (57%) or associated with lymphoproliferation (17%). Later, non-clonal lymphoproliferation was the leading clinical sign (86%), followed by respiratory infections (79%) and gastrointestinal complications (43%). Malignant lymphoproliferative disorders, all EBV-encoding RNA (EBER)-positive at the histological analysis, occurred in 14% of patients aged 17-19 years, highlighting the role of EBV in lymphomagenesis in this disorder. Diffuse large B-cell lymphoma was the most frequent. Immunological work-up revealed combined T/B cell abnormalities in most patients. Treatment strategies included immunosuppression and PI3K/Akt/mTOR inhibitor therapy. Rapamycin, employed in 36% of patients, showed efficacy in controlling lymphoproliferation, while selective PI3Kδ inhibitor leniolisib, administered in 32% of patients, was beneficial on both infections and immune dysregulation. Additionally, three patients underwent successful HSCT due to recurrent infections despite ongoing prophylaxis or lymphoproliferation poorly responsive to Rapamycin.</p><p><strong>Conclusions: </strong>This study underscores the clinical heterogeneity and challenging diagnosis of APDS, highlighting the importance of multidisciplinary management tailored to individual needs and further supporting leniolisib efficacy.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"58"},"PeriodicalIF":7.2,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.","authors":"Muskan Israni, Eliska Alderson, Nizar Mahlaoui, Laura Obici, Linda Rossi-Semerano, Helen Lachmann, Mojca Zajc Avramovič, Aurelien Guffroy, Virgil Dalm, Rachel Rimmer, Leire Solis, Carlota Villar, Andrew R Gennery, Stephanie Skeffington, Julia Nordin, Klaus Warnatz, Anne-Sophie Korganow, Jordi Antón, Marco Cattalini, Stefan Berg, Pere Soler-Palacin, Mari Campbell, Siobhan O Burns","doi":"10.1007/s10875-024-01838-y","DOIUrl":"10.1007/s10875-024-01838-y","url":null,"abstract":"<p><strong>Purpose: </strong>Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. Effective transition is crucial to improve health outcomes and treatment compliance among patients. Evaluations of existing transition programmes in European health centres identified the absence of disease-specific transition guidelines for PID and AID, as a challenge to the transition process. This research aimed to establish expert consensus statements for the transition of young patients with PID and AID to adult services.</p><p><strong>Methods: </strong>This project used the Delphi method to establish mutual agreement for the proposed recommendations. A draft set of statements was developed following a literature review of existing transition programmes. Then the ERN RITA Transition Working Group convened to review the drafted recommendations and develop them into a survey. This survey was circulated among healthcare professionals to determine consensus using a five-point Likert scale, with the level of agreement set to 80% or greater. Statements that did not reach consensus were revised by the Working Group and recirculated among respondents.</p><p><strong>Results: </strong>The initial survey received 93 responses from 68 centres across 23 countries, while the following survey outlining revised recommendations received 66 responses. The respondents agreed upon recommendations detailing the structure and administration of transition programmes, collaborative working with social systems, and contraindications to transfer of care.</p><p><strong>Conclusion: </strong>This paper sets out a comprehensive set of recommendations to optimise transitional care for PID and AID.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"57"},"PeriodicalIF":7.2,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.","authors":"Pallavi Gaikwad, Umair A Bargir, Neha Jodhawat, Aparna Dalvi, Shweta Shinde, Parag Tamhankar, Priyanka Setia, Priyanka Kambli, Amruta Dhawale, Lavina Temkar, Disha Vedpathak, Amrutha Jose, Maya Gupta, Reetika Yadav-Malik, Shubhankar Dutta, Kokoli Bose, Prasad Taur, Vijaya Gowri, Vaishnavi Iyengar, Akshaya Chougule, Mukesh Desai, Meena Sivasankaran, Sagar Bhattad, Sarath Balaji, Sangeeta Mudaliar, Ashruti Kacha, Girish Subramanian, Swati Patel, Sujata Sharma, Abhilasha Sampagar, Manisha Madkaikar","doi":"10.1007/s10875-024-01848-w","DOIUrl":"https://doi.org/10.1007/s10875-024-01848-w","url":null,"abstract":"<p><strong>Purpose: </strong>Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years.</p><p><strong>Methods: </strong>Clinical and family history was collected from case records. Comprehensive immunological assessments including lymphocyte subset analysis, and flow cytometry based evaluation of WAS protein (WASP) expressions were performed in patients along with evaluation of carrier status in mothers. Genetic analysis was carried out with either Sanger sequencing or targeted exome sequencing.</p><p><strong>Results: </strong>The patients included in this study presented at a median age of 9.5 months, with two adult cases. Clinical manifestations encompassed thrombocytopenia, eczema, bleeding, diarrhea, respiratory tract infections, CMV infection, and malignancy. Immunological phenotype revealed T cell lymphopenia, B cell lymphopenia, and elevated IgE levels. Flow cytometry analysis of WASP was performed in 36 cases out of which 68.42% demonstrated complete absent expression while others showed reduced expression. Genetic analysis highlighted that the majority of mutations affect the WH1 domain of WASP while both adult patients showed intronic mutations. Molecular Dynamics analysis conducted for the novel variants P398R and G33R showed an average RMSD (Å) higher than that of the wild type, indicating greater structural perturbations in WASP.</p><p><strong>Conclusion: </strong>In the present study we have documented 56.09% novel WAS mutations in Indian cohort. Notably, the application of flow cytometry has emerged as a valuable and efficient diagnostic tool for identifying these WAS patients.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"56"},"PeriodicalIF":7.2,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142836490","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}