Si-Ming Zhang, Jun Liang, Ji-Ping Xia, Li Li, Li Zheng, Ya-Lan Wang, Yan-Hong Li, Yan Li, Yu Lu
{"title":"Interleukin 35: protective role and mechanism in type 1 diabetes.","authors":"Si-Ming Zhang, Jun Liang, Ji-Ping Xia, Li Li, Li Zheng, Ya-Lan Wang, Yan-Hong Li, Yan Li, Yu Lu","doi":"10.5114/ceji.2023.125043","DOIUrl":"https://doi.org/10.5114/ceji.2023.125043","url":null,"abstract":"<p><p>Interleukin 35 (IL-35), a cytokine secreted by regulatory T (Treg) cells from the differentiation of conventional CD4<sup>+</sup> T cells, is a member of the IL-12 family. The IL-12 family of cytokines exhibits an anti-inflammatory property. IL-35 has recently been shown to influence the immune modulation in various diseases, including inflammatory bowel disease, Graves' disease, rheumatoid arthritis, colitis, psoriasis, and type 1 diabetes (T1D). T1D is an immune-related disease caused by destruction of pancreatic <i>β</i> cells, characterized by an absolute lack of insulin. Recently, studies have suggested that protective effects of IL-35 work by improving blood glucose levels and preventing an attack of inflammatory factors on the islets. The protective mechanism may be closely related to the anti-inflammatory properties of IL-35, which include regulating macrophage phenotype, suppressing T cell proliferation, decreasing the differentiation of Th17 cells, increasing the Treg cell population, and inducing IL-35-producing regulatory T cells (iTr35). Here, we review the protective effects and mechanisms of action of IL-35 in T1D.</p>","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"48 1","pages":"48-53"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6d/d9/CEJI-48-50137.PMC10189575.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9933153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Xinyu Cui, Yaowen Hu, Genhong Zhang, Li Zhao, Tong Ye, Qingyan Zhang, Jing Liu, Chunming Jiang, Wei Zhu
{"title":"The role of murine M1 macrophages from different sources in unilateral ureteral obstruction.","authors":"Xinyu Cui, Yaowen Hu, Genhong Zhang, Li Zhao, Tong Ye, Qingyan Zhang, Jing Liu, Chunming Jiang, Wei Zhu","doi":"10.5114/ceji.2023.129975","DOIUrl":"https://doi.org/10.5114/ceji.2023.129975","url":null,"abstract":"<p><strong>Introduction: </strong>The unilateral ureteral obstruction (UUO) model is the most extensively used model to investigate chronic renal fibrosis. Macrophages play a critical role in the UUO model. We aimed to analyze the phenotype of macrophages from different sources activated in vitro and explore the role of M1 macrophages from various sources in UUO.</p><p><strong>Material and methods: </strong>C57BL/6 mice were randomly allocated to five different groups (n = 5 per group): the sham-operated control group, PBS-treated (UUO + PBS) group, bone marrow-derived M1 macrophage-treated (UUO + BM1) group, peritoneal M1 macrophage-treated (UUO + PM1) group, and splenic M1 macrophage-treated (UUO + SPM1) group. After M1 macrophages were injected into the tail vein of UUO-treated mice, renal fibrosis indexes were determined using HE, Masson staining, and <i>α</i>-SMA.</p><p><strong>Results: </strong>Compared to those in the UUO + PBS group, the pathological changes were much more severe in the UUO + BM1, UUO + PM1, and UUO + SPM1 groups. Compared to that in the UUO + PBS group, UUO + BM1 group, and UUO + SPM1 group, the collagen area in the UUO + PM1 group was higher at post-UUO day 5 (p < 0.01). The expression of <i>α</i>-SMA in the UUO + PM1 group was higher than that in the UUO + PBS group, UUO + BM1 group, and UUO + SPM1group (p < 0.001).</p><p><strong>Conclusions: </strong>The M1 macrophages cultured in vitro were reinjected into mice and aggravated kidney injury and fibrosis. Compared with BM1 and SPM1, PM1 demonstrated a stronger effect on inducing renal injury and fibrosis.</p>","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"48 2","pages":"81-91"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/08/d1/CEJI-48-51129.PMC10485685.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10220430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hosni A M Hussein, Ali A A Thabet, Taha I A Mohamed, Mohamed E Elnosary, Ali Sobhy, Ahmed M El-Adly, Ahmed A Wardany, Elsayed K Bakhiet, Magdy M Afifi, Usama M Abdulraouf, Samah M Fathy, Noha G Sayed, Asmaa M Zahran
{"title":"Phenotypical changes of hematopoietic stem and progenitor cells in COVID-19 patients: Correlation with disease status.","authors":"Hosni A M Hussein, Ali A A Thabet, Taha I A Mohamed, Mohamed E Elnosary, Ali Sobhy, Ahmed M El-Adly, Ahmed A Wardany, Elsayed K Bakhiet, Magdy M Afifi, Usama M Abdulraouf, Samah M Fathy, Noha G Sayed, Asmaa M Zahran","doi":"10.5114/ceji.2023.129981","DOIUrl":"https://doi.org/10.5114/ceji.2023.129981","url":null,"abstract":"<p><p>Hematopoietic stem cells (HSCs) and hematopoietic progenitor cells (HPCs) play a crucial role in the context of viral infections and their associated diseases. The link between HSCs and HPCs and disease status in COVID-19 patients is largely unknown. This study aimed to monitor the kinetics and contributions of HSCs and HPCs in severe and non-severe COVID-19 patients and to evaluate their diagnostic performance in differentiating between healthy and COVID-19 patients as well as severe and non-severe cases. Peripheral blood (PB) samples were collected from 48 COVID-19 patients, 16 recovered, and 27 healthy controls and subjected to deep flow cytometric analysis to determine HSCs and progenitor cells. Their diagnostic value and correlation with C-reactive protein (CRP), D-dimer, and ferritin levels were determined. The percentages of HSCs and common myeloid progenitors (CMPs) declined significantly, while the percentage of multipotent progenitors (MPPs) increased significantly in COVID-19 patients. There were no significant differences in the percentages of megakaryocyte-erythroid progenitors (MEPs) and granulocyte-macrophage progenitors (GMPs) between all groups. Severe COVID-19 patients had a significantly low percentage of HSCs, CMPs, and GMPs compared to non-severe cases. Contrarily, the levels of CRP, D-dimer, and ferritin increased significantly in severe COVID-19 patients. MPPs and CMPs showed excellent diagnostic performance in distinguishing COVID-19 patients from healthy controls and severe from non-severe COVID-19 patients, respectively. Collectively, our study indicated that hematopoietic stem and progenitor cells are significantly altered by COVID-19 and could be used as therapeutic targets and diagnostic biomarkers for severe COVID-19.</p>","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"48 2","pages":"97-110"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/15/19/CEJI-48-51130.PMC10485691.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10587670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Bazan-Socha, Ada Gradzikiewicz, M. Celińska-Lowenhoff, Aleksandra Matyja-Bednarczyk, Anna Maciołek, K. Babol-Pokora
{"title":"Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib","authors":"S. Bazan-Socha, Ada Gradzikiewicz, M. Celińska-Lowenhoff, Aleksandra Matyja-Bednarczyk, Anna Maciołek, K. Babol-Pokora","doi":"10.5114/ceji.2022.114884","DOIUrl":"https://doi.org/10.5114/ceji.2022.114884","url":null,"abstract":"We present a case of a white adult female patient who suffered from chronic mucocutaneous candidiasis (CMC) since infancy. Her parents were not consanguineous, and neither of them nor any other family member, including an older sister, suffered from similar symptoms. The patient often received prolonged courses of antifungal antibiot-ics, but the regimens were always insufficiently effective. The differential diagnosis included atopic dermatitis or acrodermatitis enteropathica, a rare, usually genetic disor-der of zinc metabolism characterized by pustular dermatitis, diarrhea, and nail dystrophy.","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"36 1","pages":"92 - 94"},"PeriodicalIF":1.3,"publicationDate":"2022-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74066297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Łukasz Słota, Ł. Sędek, J. Kulis, Bartosz Perkowski, I. Malinowska, Joanna Zawitkowska, B. Kazanowska, K. Derwich, M. Niedźwiecki, Agnieszka Mizia-Malarz, K. Muszyńska-Rosłan, A. Kołtan, G. Karolczyk, Katarzyna Machnik, T. Urasiński, Monika Lejman, W. Badowska, W. Młynarski, J. Kowalczyk, T. Szczepański
{"title":"Expression of CD73 on leukemic blasts increases during follow-up – a promising candidate marker for minimal residual disease detection in pediatric B-cell precursor acute lymphoblastic leukemia","authors":"Łukasz Słota, Ł. Sędek, J. Kulis, Bartosz Perkowski, I. Malinowska, Joanna Zawitkowska, B. Kazanowska, K. Derwich, M. Niedźwiecki, Agnieszka Mizia-Malarz, K. Muszyńska-Rosłan, A. Kołtan, G. Karolczyk, Katarzyna Machnik, T. Urasiński, Monika Lejman, W. Badowska, W. Młynarski, J. Kowalczyk, T. Szczepański","doi":"10.5114/ceji.2022.114530","DOIUrl":"https://doi.org/10.5114/ceji.2022.114530","url":null,"abstract":"Flow cytometry (FCM) is a precise and well-established tool to assess the minimal residual disease (MRD) level in childhood acute lymphoblastic leukemia (ALL). It is crucial to distinguish leukemic cells from their normal counterparts; thus new markers should be evaluated, to increase the accuracy of the analysis. The expression of CD73 on blast cells was measured and compared at the day of diagnosis and at days 15 and 33 of treatment. To determine antigen expression levels, a normalized scale based on median fluorescence intensity (nMFI) was used. The study group consisted of 188 patients from the Polish Pediatric Leukemia and Lymphoma Study Group. From 177 patients with positive MRD at day 15 of treatment, in 147 (83.1%) cases an increase of CD73 expression was observed (mean increase of +17 nMFI units). In addition, an increase of CD73 expression was noted in 26 of 31 (83.9%) patients at day 33 of treatment. In turn, a decrease of CD73 expression was observed only in 13/177 (7.3%) and 1/31 (3.2%) cases at days 15 and 33 of treatment, respectively. In 17 (9.6%) patients no change in expression of CD73 between diagnosis and day 15 of treatment was observed. In the great majority of cases the expression of CD73 is not only stable but increases during the early stages of treatment, which makes it a very useful marker to be used for MRD monitoring in childhood B-cell precursor (BCP)-ALL patients.","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"161 1","pages":"84 - 91"},"PeriodicalIF":1.3,"publicationDate":"2022-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75674995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mateusz Miłosz, Michał Słota, J. Jakubowski, P. Kwiatkowski, S. Kasperczyk, Małgorzata Kozłowska, B. Pawłowska, Patryk Matuszek, Ewa Kuta
{"title":"Validation of the test for detecting SARS--CoV-2 antigens in the Polish population in patients with suspected SARS-CoV-2 infection","authors":"Mateusz Miłosz, Michał Słota, J. Jakubowski, P. Kwiatkowski, S. Kasperczyk, Małgorzata Kozłowska, B. Pawłowska, Patryk Matuszek, Ewa Kuta","doi":"10.5114/ceji.2022.113992","DOIUrl":"https://doi.org/10.5114/ceji.2022.113992","url":null,"abstract":"In December 2019, the World Health Organization (WHO) reported that China had accumulated pneumonia of unclear etiology in Wuhan. According to WHO recommendations, in strictly defined situations, antigen tests can be implemented into the diagnostic algorithm to reduce the number of molecular tests performed and support the rapid identification and treatment of COVID-19 patients. According to WHO recommendations, the antigen test for diagnostic use should have a sensitivity of ≥ 80% and a specificity of ≥ 97% compared to molecular tests (NAAT). Based on the comparative analysis, the sensitivity and specificity of the SARS-CoV-2 Antigen ELISA test were determined concerning the RT-PCR reference method. The sensitivity of the SARS-CoV-2 Antigen ELISA was 100% (51/51) and the specificity was 98.84%. The obtained data demonstrate that the analyzed antigen test meets both the WHO and the Ministry of Health criteria.","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"1 1","pages":"58 - 62"},"PeriodicalIF":1.3,"publicationDate":"2022-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84745558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"NK cells in SARS-CoV-2 infection","authors":"A. Pituch-Noworolska","doi":"10.5114/ceji.2022.113078","DOIUrl":"https://doi.org/10.5114/ceji.2022.113078","url":null,"abstract":"In the SARS-CoV-2 virus pandemic, the questions about specific activity of this virus in induction and/or inhibition of the innate and adaptive immune response are still open. Clinical observations of the severe and critical course of infection showed the hyperinflammation and cytokine storm. In organs and tissues that are a target for viral entry the lymphocytes and monocytes are dominant cells in tissue infiltration. There are different ways and different mechanisms leading to immune response disorders. In peripheral blood in the severe and fatal course of disease lymphopenia is frequent as a poor prognosis factor. Reduced numbers of lymphocytes, mainly T cells and NK cells, are noted in the majority of these patients. The NK cells belonging to the innate immunity system are dedicated to the antiviral response due to production of interferon (IFN) and direct lysis of virus infected cells. In SARS-CoV-2 infection NK cells’ activity against this pathogen is impaired based on inhibition of IFN production and functional exhaustion. The restoration of NK cell number and function might support elimination of the SARS-CoV-2 virus, increasing chances of recovery. The use of activated NK cells in SARS-CoV-2 therapy is under clinical trials.","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"27 1","pages":"95 - 101"},"PeriodicalIF":1.3,"publicationDate":"2022-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80097143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Magdalena Kupis, Katarzyna Samelska, J. Szaflik, P. Skopiński
{"title":"Novel therapies for diabetic retinopathy","authors":"Magdalena Kupis, Katarzyna Samelska, J. Szaflik, P. Skopiński","doi":"10.5114/ceji.2022.112993","DOIUrl":"https://doi.org/10.5114/ceji.2022.112993","url":null,"abstract":"Diabetes mellitus (DM) is a metabolic disease characterized by high blood glucose levels as well as microvascular and macrovascular changes. According to the latest statistics the growth of DM incidence is very fast. Diabetic retinopathy (DR) – one of the common DM complications – is the leading cause of blindness among professionally active people. Traditional treatment of DR including drugs controlling hyperglycemia, laser therapy, vitrectomy, and intravitreal injections of anti-VEGF is effectively administered with the effect of neovascularization and macular edema prevention. However, new potential DR therapies – focusing on a longer therapeutic effect and potentially fewer side effects – are being widely investigated. Gene therapy – targeting retinal vasculopathy or targeting retinal protection, mesenchymal stem cell injections, SGLT2 inhibitors, and islet cell transplantation have been proved to stop DR progression. The majority of the new treatment research was performed on an animal model and did not reach the final study stage. A further future human model and randomized studies with optimized delivery vectors will hopefully confirm positive outcomes of the new DR therapies.","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"95 1","pages":"102 - 108"},"PeriodicalIF":1.3,"publicationDate":"2022-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83718551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Katarzyna Zdanowicz, Anna Bobrus-Chociej, Anna Kopiczko, Mirosława Uścinowicz, Monika Tomczuk-Ostapczuk, Jacek Janica, Joanna Maria Łotowska, Irena Białokoz-Kalinowska, Dariusz Marek Lebensztejn
{"title":"Autoimmune sclerosing cholangitis might be triggered by SARS-CoV-2 infection in a child - a case report.","authors":"Katarzyna Zdanowicz, Anna Bobrus-Chociej, Anna Kopiczko, Mirosława Uścinowicz, Monika Tomczuk-Ostapczuk, Jacek Janica, Joanna Maria Łotowska, Irena Białokoz-Kalinowska, Dariusz Marek Lebensztejn","doi":"10.5114/ceji.2022.116368","DOIUrl":"https://doi.org/10.5114/ceji.2022.116368","url":null,"abstract":"<p><p>The spectrum of liver involvement during coronavirus disease 2019 (COVID-19) is broad and mainly includes elevated liver enzymes and cholestasis. Severe acute respiratory syndrome corona- virus-2 (SARS-CoV-2) infection most often leads to a transient moderate increase in liver enzymes that is not accompanied by disturbances in the synthetic function of the liver. However, there is increasing evidence that SARS-CoV-2 infection is associated with the development of autoimmune disorders. The pathogenesis of autoimmune hepatobiliary diseases is not fully understood, taking into account genetic and environmental factors such as viral infections. We present a pediatric case of autoimmune sclerosing cholangitis (ASC), which was diagnosed 2 months after SARS-CoV-2 infection. To the best of our knowledge, ASC potentially triggered by COVID-19 has not been reported in pediatric patients. Further studies are needed to describe the clinical impact of the development of autoimmune liver diseases potentially associated with SARS-CoV-2 infection in pediatric patients. Our observations indicate that children with liver injury potentially caused by COVID-19 require long-term monitoring of liver function parameters.</p>","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"47 2","pages":"183-187"},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/57/b4/CEJI-47-47053.PMC9894089.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10680811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Svetlana Kocheva, Marija Gjorgijevska, Marija Vujovic, Kata Martinova, Zorica Antevska-Trajkova, Aleksandra Jovanovska, Katarina Stavrikj, Dijana Plaseska-Karanfilska
{"title":"Autoimmune lymphoproliferative syndrome identified through reverse phenotyping.","authors":"Svetlana Kocheva, Marija Gjorgijevska, Marija Vujovic, Kata Martinova, Zorica Antevska-Trajkova, Aleksandra Jovanovska, Katarina Stavrikj, Dijana Plaseska-Karanfilska","doi":"10.5114/ceji.2022.118079","DOIUrl":"https://doi.org/10.5114/ceji.2022.118079","url":null,"abstract":"<p><p>Autoimmune lymphoproliferative syndrome (ALPS) is a chronic non-malignant lymphoproliferative disorder caused by mutations in the genes involved in programmed cell death. It is inherited as an autosomal dominant pattern with variable penetrance. In this paper we present the first report of a Macedonian family with ALPS, caused by a novel heterozygous variant in the FAS gene. The next generation sequencing (NGS) analysis in a patient with splenomegaly, suspected for hereditary spherocytosis, showed presence of the FAS c.913dupA, p.Thr305AsnfsTer16 variant. The same variant was present in the patient's mother, but not in the mother's parents (proband's grandparents). Thus, the pathogenic FAS variant has arisen as a de novo event in the proband's mother. Later, analysis of the newborn affected sister showed presence of the same FAS variant. Additional clinical and laboratory investigations in the proband and her sister confirmed the presence of specific biomarkers for ALPS. A first-line NGS analysis allows identification of the genetic defect and initiation of appropriate clinical examinations to promptly establish the clinical diagnosis in patients with rare diseases. Reverse phenotyping in our case provided a prompt and accurate diagnosis and early initiation of specific therapy.</p>","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"47 2","pages":"179-182"},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3b/52/CEJI-47-47481.PMC9894091.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10680812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}