Pediatric Rheumatology最新文献

{"title":"Th17/1 and ex-Th17 cells are detected in patients with polyarticular juvenile arthritis and increase following treatment","authors":"Stephanie Wood, Justin Branch, Priscilla Vasquez, Marietta M. DeGuzman, Amanda Brown, Anna Carmela Sagcal-Gironella, Saimun Singla, Andrea Ramirez, Tiphanie P. Vogel","doi":"10.1186/s12969-024-00965-5","DOIUrl":"https://doi.org/10.1186/s12969-024-00965-5","url":null,"abstract":"A better understanding of the pathogenesis of polyarticular juvenile idiopathic arthritis (polyJIA) is needed to aide in the development of data-driven approaches to guide selection between therapeutic options. One inflammatory pathway of interest is JAK-STAT signaling. STAT3 is a transcription factor critical to the differentiation of inflammatory T helper 17 cells (Th17s). Previous studies have demonstrated increased STAT3 activation in adult patients with rheumatoid arthritis, but less is known about STAT3 activation in polyJIA. We hypothesized that Th17 cells and STAT3 activation would be increased in treatment-naïve polyJIA patients compared to pediatric controls. Blood from 17 patients with polyJIA was collected at initial diagnosis and again if remission was achieved (post-treatment). Pediatric healthy controls were also collected. Peripheral blood mononuclear cells were isolated and CD4 + T cell subsets and STAT activation (phosphorylation) were evaluated using flow cytometry. Data were analyzed using Mann–Whitney U and Wilcoxon matched-pairs signed rank tests. Treatment-naïve polyJIA patients had increased Th17 cells (CD3 + CD4 + interleukin(IL)-17 +) compared to controls (0.15% v 0.44%, p < 0.05), but Tregs (CD3 + CD4 + CD25 + FOXP3 +) from patients did not differ from controls. Changes in STAT3 phosphorylation in CD4 + T cells following ex vivo stimulation were not significantly different in patients compared to controls. We identified dual IL-17 + and interferon (IFN)γ + expressing CD4 + T cells in patients, but not controls. Further, both Th17/1 s (CCR6 + CD161 + IFNγ + IL-17 +) and ex-Th17s (CCR6 + CD161 + IFNγ + IL-17neg) were increased in patients’ post-treatment (Th17/1: 0.3% v 0.07%, p < 0.05 and ex-Th17s: 2.3% v 1.4%, p < 0.05). The patients with the highest IL-17 expressing cells post-treatment remained therapy-bound. Patients with polyJIA have increased baseline Th17 cells, potentially reflecting higher tonic STAT3 activation in vivo. These quantifiable immune markers may identify patients that would benefit upfront from pathway-focused biologic therapies. Our data also suggest that inflammatory CD4 + T cell subsets not detected in controls but increased in post-treatment samples should be further evaluated as a tool to stratify patients in remission on medication. Future work will explore these proposed diagnostic and prognostic biomarkers.","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"18 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140018505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Profile of HLA-B27-positive enthesitis/spondylitis-related arthritis in Senegal, West Africa.","authors":"Mounib M Sabounji, Aïssatou Ndiaye, Saïdou Diallo","doi":"10.1186/s12969-024-00969-1","DOIUrl":"10.1186/s12969-024-00969-1","url":null,"abstract":"<p><strong>Background: </strong>Enthesitis/spondylitis-related arthritis (ERA) is a type of juvenile idiopathic arthritis (JIA) frequently associated with HLA-B27. In sub-Saharan Africa, HLA-B27-positive ERA hasn't been the subject of a specific study.</p><p><strong>Objectives: </strong>We aimed to describe the clinical features, disease activity, functional disability and treatment of HLA-B27-positive ERA at diagnosis in Senegal and compare the findings to other populations.</p><p><strong>Methods: </strong>We conducted a retrospective study by reviewing the medical records of patients diagnosed with ERA with an age of symptom onset < 18 years according to the 2019 PRINTO provisional criteria for ERA from January 2012 to December 2022. We collected demographic, clinical, paraclinical and therapeutic data. Disease activity score was assessed by Ankylosing Spondylitis Disease Activity Score (ASDAS) and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). Functional disability was assessed using Bath Ankylosing Spondylitis Functional Index (BASFI).</p><p><strong>Results: </strong>A total of 31 patients with HLA-B27-positive ERA were included. Twenty of 31 (64.5%) were males. Twenty-seven (87%) were Fula (ethnicity). The median age at symptom onset and at diagnosis was 12 years and 19 years, respectively. Seven patients had a family history of Spondyloarthritis. Peripheral arthritis and enthesitis were the most common presenting features at disease onset. Peripheral arthritis was present in 29 (93.5%) and located in the lower limbs in 27/29 (93.1%) patients. Heel enthesitis was present in 26 (83.8%) patients. Axial involvement was present in 27 (87%) patients, dominated by low back pain and sacroiliac pain/ buttock pain in 24 (88.8%) and 22 (81.5%) patients, respectively. Seven (22.5%) patients had anterior uveitis. The ESR and CRP were elevated in 65.5% and 57.1% of cases, respectively. On imaging, sacroiliitis was found in 22 patients. The mean BASDAI was 5.5/10 (77.2% of patients had a high active disease; BASDAI ≥ 4/10). The mean ASDAS-ESR/CRP was 3.8. The mean BASFI was 5.4/10 (80% of patients had high functional disability; BASFI ≥ 4/10). Twenty-seven (87%) patients were treated with methotrexate and non-steroidal anti-inflammatory drugs. After 6 months of treatment, mean BASDAI was 3/10 and mean BASFI was 2.5/10.</p><p><strong>Conclusion: </strong>In our study, HLA-B27-positive ERA was found in our Senegalese cohort mainly in adolescents of the Fula ethnic group. 22 (70.9%) patients developed ankylosing spondylitis at adulthood. The disease was very active at the time of diagnosis with significant functional disability. Treatment was mainly based on methotrexate and NAISDs.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"31"},"PeriodicalIF":2.5,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10903049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139998326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increase in stress contributes to impaired jaw function in juvenile idiopathic arthritis: a two-year prospective study.","authors":"Alexandra Dimitrijevic Carlsson, Kerstin Wahlund, Erik Kindgren, Martina Frodlund, Per Alstergren","doi":"10.1186/s12969-024-00966-4","DOIUrl":"10.1186/s12969-024-00966-4","url":null,"abstract":"<p><strong>Background: </strong>Stress in patients with Juvenile Idiopathic Arthritis (JIA) has been found to be associated with orofacial pain, psychological distress, jaw dysfunction and loss of daily activities in a cross-sectional study. The aim of this study was to investigate the relations between stress and change of stress over time versus changes in orofacial pain, psychosocial factors and jaw function over a two-year period in patients with JIA.</p><p><strong>Methods: </strong>This is a two-year prospective follow-up study involving 40 JIA patients. At baseline (2015) the median age was 12 years and at two-year follow up (2018) 14 years. The JIA patients were examined clinically and with questionnaires at baseline and follow-up with the diagnostic criteria for temporomandibular disorders (DC/TMD) and completed the same set of DC/TMD questionnaires regarding orofacial pain symptoms and psychosocial factors.</p><p><strong>Results: </strong>Change in stress was associated with change in catastrophizing, psychological distress as well as limitation in general function and jaw function.</p><p><strong>Conclusions: </strong>This study emphasizes the importance of maintaining a low stress level in patients with JIA since an increase in stress level over a two-year period seems to impair jaw function as well as psychological distress and catastrophizing.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"30"},"PeriodicalIF":2.5,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10898012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Juvenile eosinophilic fasciitis: a single center case series.","authors":"Leigh A Stubbs, Oluwaseun Ogunbona, Emily Beil, Vibha Szafron, Adekunle Adesina, Sara Anvari, Jamie Lai, Andrea Ramirez, Matthew G Ditzler, Marietta DeGuzman","doi":"10.1186/s12969-024-00960-w","DOIUrl":"10.1186/s12969-024-00960-w","url":null,"abstract":"<p><strong>Background: </strong>Eosinophilic fasciitis (EF) is a rare disease characterized by skin induration and musculoskeletal abnormalities. Diagnostic criteria for EF are based on adult populations. There is a need to expand the literature on EF in children due to limited reported cases and potential differences compared to adults.</p><p><strong>Methods: </strong>We conducted a retrospective review of medical records for six pediatric patients diagnosed with EF at our institution between November 2011 and April 2023. Inclusion criteria required patients to be under 18 years of age at the time of diagnosis and to have confirmed diagnosis through clinical history, imaging, and histology.</p><p><strong>Results: </strong>Most of our cohort were female (83%) and non-Hispanic white (50%). Age at diagnosis ranged from 4 to 16 years. Duration of symptoms before diagnosis varied from 1 to 12 months. Follow-up periods ranged from 14 to 123 months. Concurrent medical conditions included localized scleroderma, acquired thrombophilia, and juvenile idiopathic arthritis. Patients presented with progressive painful swelling, severe joint limitations, and positive prayer sign. Initial regimens involved corticosteroids and methotrexate. Hydroxychloroquine, immunoglobulin, mycophenolate mofetil, rituximab, and tocilizumab were also used depending on the patient's disease severity and course.</p><p><strong>Conclusions: </strong>Juvenile EF may manifest as swelling and progressive induration without apparent skin abnormalities. Unlike adult populations, no underlying malignancies or associations with trauma were observed in our cohort. Our cases did not exhibit systemic involvement observed in previous studies on juvenile EF. While non-specific, the prayer sign may aid in early recognition of juvenile EF and help prevent long-term disability.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"29"},"PeriodicalIF":2.5,"publicationDate":"2024-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10893626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139941253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders.","authors":"Daniela Choukair, Christian Patry, Ronny Lehmann, Dorothea Treiber, Georg F Hoffmann, Corinna Grasemann, Normi Bruck, Reinhard Berner, Peter Burgard, Hanns-Martin Lorenz, Burkhard Tönshoff","doi":"10.1186/s12969-024-00963-7","DOIUrl":"10.1186/s12969-024-00963-7","url":null,"abstract":"<p><strong>Background: </strong>A structured transition of adolescents and young adults with chronic autoinflammatory and autoimmune disorders from the pediatric to the adult health care system is important. To date, data on the time, processes, outcome, resources required for the necessary components of the transition process and the associated costs are lacking.</p><p><strong>Methods: </strong>Evaluation of resource use and costs in a prospective cohort study of 58 adolescents with chronic autoinflammatory and autoimmune disorders, for the key elements of a structured transition pathway including (i) compilation of a summary of patient history, (ii) assessment of patients' disease-related knowledge and needs, (iii) required education and counseling sessions, (iv) and a transfer appointment of the patient with the current pediatric and the future adult rheumatologist.</p><p><strong>Results: </strong>Forty-nine of 58 enrolled patients (84.5%) completed the transition pathway and were transferred to adult care. The mean time from the decision to start the transition process to the final transfer consultation was 315 ± 147 days. Transfer consultations were performed in 49 patients, including 10 patients jointly with the future adult rheumatologist. Most consultations were performed by the multidisciplinary team with a median of three team members and lasted 65.5 ± 21.3 min. The cumulative cost of all consultation and education sessions performed including the transfer appointment was 283 ± 164 Euro per patient. In addition, the cost of coordinating the transition process was 57.3 ± 15.4 Euro.</p><p><strong>Conclusions: </strong>A structured transition pathway for patients with chronic autoinflammatory and autoimmune disorders is resource and time consuming and should be adequately funded.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"28"},"PeriodicalIF":2.5,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139941254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Engaging patients and parents to improve mental health intervention for youth with rheumatological disease.","authors":"Oluwatunmise A Fawole, Michelle V Reed, Julia G Harris, Aimee Hersh, Martha Rodriguez, Karen Onel, Erica Lawson, Tamar Rubinstein, Kaveh Ardalan, Esi Morgan, Anne Paul, Judy Barlin, R Paola Daly, Mitali Dave, Shannon Malloy, Shari Hume, Suzanne Schrandt, Laura Marrow, Angela Chapson, Donna Napoli, Michael Napoli, Miranda Moyer, Vincent Delgaizo, Ashley Danguecan, Emily von Scheven, Andrea Knight","doi":"10.1186/s12969-024-00958-4","DOIUrl":"10.1186/s12969-024-00958-4","url":null,"abstract":"","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"27"},"PeriodicalIF":2.5,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10870660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139747680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Algorithmic approach in the diagnosis of pediatric uveitis.","authors":"Farhad Salehzadeh","doi":"10.1186/s12969-024-00962-8","DOIUrl":"10.1186/s12969-024-00962-8","url":null,"abstract":"","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"26"},"PeriodicalIF":2.5,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10865649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139736713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Body mass index is associated with health-related quality of life and disease characteristics in young adults with juvenile idiopathic arthritis","authors":"Anna-Kaisa Tuomi, Katariina Rebane, Ellen Dalen Arnstad, Lillemor Berntson, Anders Fasth, Mia Glerup, Troels Herlin, Hannu Kautiainen, Ellen Nordal, Suvi Peltoniemi, Marite Rygg, Veronika Rypdal, Marek Zak, Kristiina Aalto","doi":"10.1186/s12969-023-00931-7","DOIUrl":"https://doi.org/10.1186/s12969-023-00931-7","url":null,"abstract":"There is a growing interest concerning the relationship between obesity and several medical conditions and inflammation. Nevertheless, there is a lack of studies regarding body mass index (BMI) among patients with juvenile idiopathic arthritis (JIA). Our aim was to investigate the impact of BMI on health-related quality of life (HRQoL) measured with a 36-Item Short Form Survey (SF-36), disease activity, and disability in young adults with JIA. This study is a part of the population-based Nordic JIA cohort study. All newly diagnosed patients with JIA were recruited consecutively between 1997–2000 in specific regions in the Nordic countries. Patients in this sub-study were enrolled from 434 patients who attended their 18-year follow-up visit. Patients were classified according to the World Health Organization (WHO) into four groups based on their BMI. HRQoL, disease characteristics, disability, fatigue, sleep quality, physical activity, pain, comorbidities, and social status were assessed. Three hundred fifty-five patients from the original study cohort were enrolled in this study and 72% of them were female. Mean age was 23.9 (± SD 4.4) years. A significant relationship was found between the JIA categories and BMI groups (p = 0.014). A significant relationship was also found between BMI and disease activity scores (DAS28) (p = 0.028), disability (p < 0.001), pain (p = 0.013), fatigue (p = 0.035), and sleep quality (p = 0.044). Moreover, a significant relationship between BMI and HRQoL regarding bodily pain (p = 0.010) and general health (p = 0.048) was revealed when adjusted for sex, age, and JIA subtype. We discovered that BMI was significantly related to HRQoL, disease activity, and disability. BMI deserves more attention considering the treatment options and outcome of JIA in young adults.","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"1 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139663007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kawasaki disease in neonates: a case report and literature review.","authors":"Mingjun Shen, Die Liu, Fang Ye, Jing Zhang, Jun Wang","doi":"10.1186/s12969-024-00959-3","DOIUrl":"10.1186/s12969-024-00959-3","url":null,"abstract":"<p><strong>Background: </strong>Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology that affects infants and young children but is extremely rare in neonates, especially afebrile KD. We present a case of KD without fever in a neonate and review the literature on KD in neonates.</p><p><strong>Case presentation: </strong>A newborn female was hospitalized because her peripheral blood leukocytes increased for half a day. The admission diagnosis was considered neonatal sepsis and bacterial meningitis. She had no fever since the admission, but a rash appeared on her face by the 7th day. On day 11 after admission, there was a desquamation on the distal extremities. On day 15 after admission, ultrasound showed non-suppurative cervical lymphadenopathy. Echocardiogram revealed coronary artery aneurysms in both sides. Finally, the patient was diagnosed with incomplete KD (IKD). The follow-up echocardiogram showed that the internal diameter of both coronary arteries returned to normal three months after birth.</p><p><strong>Conclusions: </strong>Fever, rash, and distal extremity desquamation during the recovery phase are the most common symptoms of IKD. When newborns present with clinical manifestations such as rash, distal extremity desquamation and cervical lymph adenitis and with an increased peripheral blood leukocyte count and progressive increase in platelets simultaneously, the medical staff should be highly alert to the possibility of KD even without fever. The echocardiogram needs to be performed promptly. The incidence of coronary artery lesions is significantly higher if neonatal KD patients miss timely diagnosis and treatment.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"23"},"PeriodicalIF":2.8,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10823709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139577134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.","authors":"Peiwei Zhao, Juan Huang, Huicong Fu, Jiali Xu, Tianhong Li, Xiankai Zhang, Qingjie Meng, Lei Zhang, Li Tan, Wen Zhang, Hebin Chen, Xiaoxia Lu, Yan Ding, Xuelian He","doi":"10.1186/s12969-024-00955-7","DOIUrl":"10.1186/s12969-024-00955-7","url":null,"abstract":"<p><strong>Background: </strong>Germline heterozygous gain-of-function (GOF) mutations in the PIK3CD gene lead to a rare primary immunodeficiency disease known as activated phosphoinositide 3-kinase (PI3K) δ syndrome type 1(APDS1). Affected patients present a spectrum of clinical manifestations, particularly recurrent respiratory infections and lymphoproliferation, increased levels of serum immunoglobulin (Ig) M, Epstein-Barr virus (EBV) and cytomegalovirus (CMV) viremia. Due to highly heterogeneous phenotypes of APDS1, it is very likely that suspected cases may be misdiagnosed.</p><p><strong>Methods: </strong>Herein we reported three patients with different clinical presentations but harboring pathogenic variants in PIK3CD gene detected by trio whole-exome sequencing (trio-WES) and confirmed by subsequent Sanger sequencing.</p><p><strong>Results: </strong>Two heterozygous mutations (c.3061G > A, p.E1021K and c.1574 A > G, p.E525G) in PIK3CD (NM_005026.3) were identified by whole exome sequencing (WES) in the three patients. One of two patients with the mutation (c.3061G > A) presented with abdominal pain and diarrhea as the first symptoms, which was due to intussusception caused by multiple polyps of colon. The patient with mutation (c.1574 A > G) had an anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV)-like clinical manifestations, including multisystemic inflammation, acute nephritic syndrome, and positive perinuclear ANCA (p-ANCA), thus the diagnosis of ANCA-AAV was considered.</p><p><strong>Conclusions: </strong>Our study expands the spectrums of clinical phenotype and genotype of APDS, and demonstrates that WES has a high molecular diagnostic yield for patients with immunodeficiency related symptoms, such as respiratory infections, multiple ecchymosis, ANCA-associated vasculitis, multiple ileocecal polyps, hepatosplenomegaly, and lymphoid hyperplasia.</p><p><strong>Trial registration: </strong>Retrospectively registered.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"24"},"PeriodicalIF":2.5,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10823743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139577153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}