LIVIVO - Das Suchportal für Lebenswissenschaften

switch to English language
Erweiterte Suche

Ihre letzten Suchen

  1. AU="Eltan, Sevgi Bilgic"
  2. AU=Shibley I A Jr
  3. AU="Shin Ohta"
  4. AU="Herrera, José M."
  5. AU="Bolanle, Ogunyemi Folasade"
  6. AU="Spezialetti, Matteo"
  7. AU=Rosas Lucia E
  8. AU="Spadotto, Valeria"
  9. AU="Jimenez-Macias, Jorge L"

Suchergebnis

Treffer 1 - 10 von insgesamt 14

Suchoptionen

  1. Artikel ; Online: Safety, efficiency, and treatment satisfaction in children with primary immunodeficiency receiving subcutaneous immunoglobulin treatment.

    Eltan, Sevgi Bilgic / Keskin, Ozlem / Deveci, Mehmet Fatih

    Northern clinics of Istanbul

    2022  Band 9, Heft 3, Seite(n) 228–234

    Abstract: Objective: Patients with Inborn Errors of Immunity, also known as Primary Immunodeficiency (PID), are prone to recurrent bacterial infections and these patients often require lifelong IgG replacement therapy. The aim of this presentation is to evaluate ... ...

    Abstract Objective: Patients with Inborn Errors of Immunity, also known as Primary Immunodeficiency (PID), are prone to recurrent bacterial infections and these patients often require lifelong IgG replacement therapy. The aim of this presentation is to evaluate the efficacy, safety, and patient satisfaction in PID patients receiving subcutaneous immunoglobulin (SCIG) treatment and to share our expe-riences.
    Methods: Twenty-one patients who were followed up with the diagnosis of PID by our Pediatric Allergy and Immunology Clinic and received regular intravenous immunoglobulin therapy (IVIG) befo-re starting SCIG treatment were included in the study.
    Results: A total of 21 patients were included in the study. 10 of the patients (47.6%) were female, 11 (52.4%) were male, and the mean age was 8.8±4.42 years. Five of the patients were Syrian patients living in the refugee camp. Threshold IgG levels of the patients were evaluated every 3 months. IgG levels were significantly higher than baseline IVIG levels at weeks 3, 6, and 12 of SCIG treatment, respectively. There was no significant difference between 3
    Conclusion: SCIG therapy causes high serum IgG levels and a reduced frequency of infections and can be a safe, effective, and well-tolerated treatment alternative in patients with PID with high patient satisfaction.
    Sprache Englisch
    Erscheinungsdatum 2022-07-20
    Erscheinungsland Turkey
    Dokumenttyp Journal Article
    ZDB-ID 3031921-3
    ISSN 2536-4553 ; 2148-4902
    ISSN (online) 2536-4553
    ISSN 2148-4902
    DOI 10.14744/nci.2020.16870
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  2. Artikel: A Novel

    Arslan Ateş, Esra / Türkyılmaz, Ayberk / Eltan, Sevgi Bilgiç / Barış, Safa / Güney, Ahmet Ilter

    Molecular syndromology

    2021  Band 13, Heft 1, Seite(n) 80–84

    Abstract: Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive ataxia, choreoathetosis and immunodeficiency beginning in early childhood. An 8-year-old girl was referred with a diagnosis of AT. She had gait disturbance and ... ...

    Abstract Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive ataxia, choreoathetosis and immunodeficiency beginning in early childhood. An 8-year-old girl was referred with a diagnosis of AT. She had gait disturbance and dysarthria for 3years. Multiple cutaneous telangiectases were observed on her face, trunk and limbs. Sequence analysis of the
    Sprache Englisch
    Erscheinungsdatum 2021-10-15
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000518629
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  3. Artikel ; Online: The association of milk and multiple food avoidance with growth parameters in infants and children.

    Sackesen, Cansin / Buyuktiryaki, Betul / Gokce, Tugba / Gogebakan, Emre / Gundogdu, Beliz Su / Eltan, Sevgi Bilgic / Karakoc-Aydiner, Elif / Yilmaz, Ebru Arik / Can, Ceren / Cengiz, Hilal / Unlugedik, Ozlem / Celik, Nevin / Incir, Said / Mutlu, Gul Yesiltepe / Yildirim, Damla / Ozel, Hulya Gokmen / Hatun, Sukru

    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

    2024  

    Abstract: Background: Recent studies reported that strict avoidance of milk products in cow's milk allergy (CMA) affects growth and bone turnover, causing negative calcium balance and changes in bone metabolism.: Objective: To investigate biochemical ... ...

    Abstract Background: Recent studies reported that strict avoidance of milk products in cow's milk allergy (CMA) affects growth and bone turnover, causing negative calcium balance and changes in bone metabolism.
    Objective: To investigate biochemical parameters to predict bone turnover and its relations with height and weight measurements and nutritional intake.
    Methods: Height, weight, and body mass index z scores were plotted for age according to the World Health Organization. A 3-consecutive day food record was analyzed for nutritional values of foods. The blood levels of calcium, phosphorus, alkaline phosphatase, vitamin D, and parathyroid hormone (PTH) were determined.
    Results: The study included 69 controls, 66 children with isolated CMA, and 59 children with multiple food allergy (FA). The z scores for weight, height, and body mass index were lower in isolated CMA and multiple FA groups than controls (P < .001, P = .004, and P = .002, respectively). The nutritional intakes of protein, fat, carbohydrates, vitamins B2 and B12, niacin, calcium, and phosphorus were significantly lower in isolated CMA and multiple FA than controls. In infants (≤2 years of age), although blood calcium level was in normal range, it was significantly lower in isolated CMA and multiple FA than in controls (P < .001). In children older than 2 years, PTH level was significantly higher in isolated CMA and multiple FA groups than in controls (P = .003).
    Conclusion: Our study revealed that children with isolated CMA and multiple FA had a high nutrition gap, growth deceleration, and unbalanced bone metabolism, as illustrated by low blood calcium and elevated PTH levels.
    Sprache Englisch
    Erscheinungsdatum 2024-03-04
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1228189-x
    ISSN 1534-4436 ; 0003-4738 ; 1081-1206
    ISSN (online) 1534-4436
    ISSN 0003-4738 ; 1081-1206
    DOI 10.1016/j.anai.2024.02.023
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  4. Artikel ; Online: Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.

    Karakus, Ibrahim Serhat / Catak, Mehmet Cihangir / Frohne, Alexandra / Bayram Catak, Feyza / Yorgun Altunbas, Melek / Babayeva, Royala / Bal, Sevgi Kostel / Eltan, Sevgi Bilgic / Yalcin Gungoren, Ezgi / Esen, Fehim / Zemheri, Itir Ebru / Karakoc-Aydiner, Elif / Ozen, Ahmet / Caki-Kilic, Suar / Kraakman, Michael J / Boztug, Kaan / Baris, Safa

    Journal of clinical immunology

    2024  Band 44, Heft 4, Seite(n) 94

    Abstract: Purpose: Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with a STIM1 loss-of-function mutation who ... ...

    Abstract Purpose: Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with a STIM1 loss-of-function mutation who presented with severe lymphoproliferation. We sought to explore the efficacy of the mTOR inhibitor rapamycin in controlling disease manifestations and reversing aberrant T-cell subsets and functions, which has never been used previously in this disorder.
    Methods: Clinical findings of the patient were collected over time. We performed immunological evaluations before and after initiation of rapamycin treatment, including detailed lymphocyte subset analyses, alterations in frequencies of circulating T follicular helper (cT
    Results: A novel homozygous exon 2 deletion in STIM1 was detected in a 3-year-old girl with severe lymphoproliferation, recurrent infections, myopathy, iris hypoplasia, and enamel hypoplasia. Lymphoproliferation was associated with severe T-cell infiltrates. The deletion resulted in a complete loss of protein expression, associated with a lack of store-operated calcium entry response, defective T-cell activation, proliferation, and cytokine production. Interestingly, patient blood contained fewer cT
    Conclusions: This study enhances our understanding of STIM1 deficiency by uncovering additional abnormal T-cell responses, and reveals for the first time the potential therapeutic utility of rapamycin for this disorder.
    Mesh-Begriff(e) Female ; Humans ; Child, Preschool ; Stromal Interaction Molecule 1/genetics ; Sirolimus ; T-Lymphocyte Subsets ; Muscular Diseases ; Immunoglobulin E ; Neoplasm Proteins
    Chemische Substanzen Stromal Interaction Molecule 1 ; Sirolimus (W36ZG6FT64) ; Immunoglobulin E (37341-29-0) ; STIM1 protein, human ; Neoplasm Proteins
    Sprache Englisch
    Erscheinungsdatum 2024-04-05
    Erscheinungsland Netherlands
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-024-01682-0
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  5. Artikel ; Online: Most children who are allergic to cow's milk tolerate yogurt.

    Küçükosmanoğlu, Ercan / Özen, Evrim / Eltan, Sevgi Bilgiç / Özkars, Mehmet Yaşar / Keskin, Özlem

    The Journal of international medical research

    2018  Band 46, Heft 12, Seite(n) 5099–5106

    Abstract: Objective: Cow's milk allergy is the most common food allergy in childhood. Changes occur in the protein structure of milk during yogurt fermentation. This study aimed to determine whether children who are diagnosed with a cow's milk allergy can ... ...

    Abstract Objective: Cow's milk allergy is the most common food allergy in childhood. Changes occur in the protein structure of milk during yogurt fermentation. This study aimed to determine whether children who are diagnosed with a cow's milk allergy can tolerate yogurt.
    Methods: We performed a yogurt challenge test on 34 children who were diagnosed with a cow's milk allergy in our Pediatric Allergy Outpatient Clinic. The mean age of 24 male and 10 female children was 24 ± 13 months.
    Results: A reaction was observed in 17 (50%) patients, whereas no reaction was observed in the other 17 (50%) during an oral yogurt challenge test that was performed in all of the 34 patients with a cow's milk allergy. Cow's milk-specific immunoglobulin E levels were significantly lower in the group of children who could tolerate yogurt than in the group of children who could not tolerate yogurt.
    Conclusion: Yogurt is tolerated by half of children with a cow's milk allergy when subjected to a challenge test performed with yogurt, which is consumed as much as milk in Turkey.
    Mesh-Begriff(e) Animals ; Cattle ; Child, Preschool ; Female ; Humans ; Immunoglobulin E/immunology ; Infant ; Male ; Milk Hypersensitivity/epidemiology ; Milk Hypersensitivity/etiology ; Milk Hypersensitivity/prevention & control ; Milk Proteins/adverse effects ; Prevalence ; Turkey/epidemiology ; Yogurt
    Chemische Substanzen Milk Proteins ; Immunoglobulin E (37341-29-0)
    Sprache Englisch
    Erscheinungsdatum 2018-08-09
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 184023-x
    ISSN 1473-2300 ; 0300-0605 ; 0142-2596
    ISSN (online) 1473-2300
    ISSN 0300-0605 ; 0142-2596
    DOI 10.1177/0300060518790430
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  6. Artikel ; Online: Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.

    Kayaoglu, Basak / Kasap, Nurhan / Yilmaz, Naz Surucu / Charbonnier, Louis Marie / Geckin, Busranur / Akcay, Arzu / Eltan, Sevgi Bilgic / Ozturk, Gulyuz / Ozen, Ahmet / Karakoc-Aydiner, Elif / Chatila, Talal A / Gursel, Mayda / Baris, Safa

    Journal of clinical immunology

    2021  Band 41, Heft 4, Seite(n) 769–779

    Abstract: Purpose: Patients with heterozygous gain-of-function (GOF) mutations in STAT1 frequently exhibit chronic mucocutaneous candidiasis (CMC), immunodeficiency and autoimmune manifestations. Several treatment options including targeted therapies and ... ...

    Abstract Purpose: Patients with heterozygous gain-of-function (GOF) mutations in STAT1 frequently exhibit chronic mucocutaneous candidiasis (CMC), immunodeficiency and autoimmune manifestations. Several treatment options including targeted therapies and hematopoietic stem cell transplantation (HSCT) are available for STAT1 GOF patients but modalities and outcomes are not well established. Herein, we aimed to unravel the effect of ruxolitinib as a bridge therapy in a patient with sporadic STAT1 T385M mutation to manage infections and other disease manifestations.
    Methods: Peripheral blood mononuclear cells were isolated from the patient prior to, during ruxolitinib treatment and 6 months after HSCT. IFN-β-induced STAT1 phosphorylation/dephosphorylation levels and PMA/ionomycin-stimulated intracellular IL-17A/IFN-γ production in CD4
    Results: Ruxolitinib provided favorable responses by controlling candidiasis and autoimmune hemolytic anemia in the patient. Dysregulation in STAT1 phosphorylation kinetics improved with ruxolitinib treatment and was completely normalized after transplantation. T
    Conclusion: Our findings suggest that improved disease management and immune dysregulatory profile can be achieved with ruxolitinib treatment before transplantation and this would be beneficial to reduce the risk of adverse outcome of HSCT.
    Mesh-Begriff(e) Alleles ; Child, Preschool ; Combined Modality Therapy ; Cytokines/metabolism ; Diagnosis, Differential ; Female ; Gain of Function Mutation ; Genotype ; Hematopoietic Stem Cell Transplantation/adverse effects ; Hematopoietic Stem Cell Transplantation/methods ; Humans ; Immune System Diseases/diagnosis ; Immune System Diseases/etiology ; Immune System Diseases/therapy ; Immunophenotyping ; Janus Kinase Inhibitors/therapeutic use ; Nitriles/therapeutic use ; Phenotype ; Phosphorylation ; Pyrazoles/therapeutic use ; Pyrimidines/therapeutic use ; STAT1 Transcription Factor/genetics ; STAT1 Transcription Factor/metabolism ; Treatment Outcome
    Chemische Substanzen Cytokines ; Janus Kinase Inhibitors ; Nitriles ; Pyrazoles ; Pyrimidines ; STAT1 Transcription Factor ; STAT1 protein, human ; ruxolitinib (82S8X8XX8H)
    Sprache Englisch
    Erscheinungsdatum 2021-01-21
    Erscheinungsland Netherlands
    Dokumenttyp Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-020-00943-y
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  7. Artikel ; Online: Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.

    Baris, Safa / Benamar, Mehdi / Chen, Qian / Catak, Mehmet Cihangir / Martínez-Blanco, Mónica / Wang, Muyun / Fong, Jason / Massaad, Michel J / Sefer, Asena Pinar / Kara, Altan / Babayeva, Royala / Eltan, Sevgi Bilgic / Yucelten, Ayse Deniz / Bozkurtlar, Emine / Cinel, Leyla / Karakoc-Aydiner, Elif / Zheng, Yumei / Wu, Hao / Ozen, Ahmet /
    Schmitz-Abe, Klaus / Chatila, Talal A

    The Journal of allergy and clinical immunology

    2023  Band 152, Heft 1, Seite(n) 182–194.e7

    Abstract: Background: Inborn errors of immunity have been implicated in causing immune dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses.: Objectives: This study sought to characterize a novel gain-of-function STAT6 ... ...

    Abstract Background: Inborn errors of immunity have been implicated in causing immune dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses.
    Objectives: This study sought to characterize a novel gain-of-function STAT6 mutation identified in a child with severe allergic manifestations.
    Methods: Whole-exome and targeted gene sequencing, lymphocyte characterization, and molecular and functional analyses of mutated STAT6 were performed.
    Results: This study reports a child with a missense mutation in the DNA binding domain of STAT6 (c.1114G>A, p.E372K) who presented with severe atopic dermatitis, eosinophilia, and elevated IgE. Naive lymphocytes from the affected patient displayed increased T
    Conclusions: This study identified a novel inborn error of immunity due to a STAT6 gain-of-function mutation that gave rise to severe allergic dysregulation. Janus kinase inhibitor therapy could represent an effective targeted treatment for this disorder.
    Mesh-Begriff(e) Child ; Humans ; Transcription Factors/genetics ; Gain of Function Mutation ; Dermatitis, Atopic/genetics ; Hypersensitivity/genetics ; Eosinophilia/genetics ; STAT6 Transcription Factor/genetics ; STAT6 Transcription Factor/metabolism ; Th2 Cells
    Chemische Substanzen Transcription Factors ; STAT6 Transcription Factor ; STAT6 protein, human
    Sprache Englisch
    Erscheinungsdatum 2023-02-08
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2023.01.023
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  8. Artikel ; Online: Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency.

    Wilkie, Hazel / Das, Mrinmoy / Pelovitz, Tyler / Bainter, Wayne / Woods, Brian / Alasharee, Mohammed / Sobh, Ali / Baris, Safa / Eltan, Sevgi Bilgic / Al-Herz, Waleed / Barbouche, Mohamed-Ridha / Ben-Mustapha, Imen / Ben-Ali, Meriem / Sallam, Mohamed T H / Awad, Amany / Lotfy, Sohilla / El Marsafy, Aisha / Ezzelarab, Moushira / Farrar, Michael /
    Schmidt, Brigitta A R / NandyMazumdar, Monali / Guttman-Yassky, Emma / Sheets, Anthony / Vidic, Katie Maria / Murphy, George / Schlievert, Patrick M / Chou, Janet / Leyva-Castillo, Juan Manuel / Janssen, Erin / Timilshina, Maheshwor / Geha, Raif S

    The Journal of allergy and clinical immunology

    2024  

    Abstract: Background: Dedicator of cytokinesis 8 (DOCK8)-deficient patients have severe eczema, elevated IgE, and eosinophilia, features of atopic dermatitis (AD).: Objective: We sought to understand the mechanisms of eczema in DOCK8 deficiency.: Methods: ... ...

    Abstract Background: Dedicator of cytokinesis 8 (DOCK8)-deficient patients have severe eczema, elevated IgE, and eosinophilia, features of atopic dermatitis (AD).
    Objective: We sought to understand the mechanisms of eczema in DOCK8 deficiency.
    Methods: Skin biopsy samples were characterized by histology, immunofluorescence microscopy, and gene expression. Skin barrier function was measured by transepidermal water loss. Allergic skin inflammation was elicited in mice by epicutaneous sensitization with ovalbumin (OVA) or cutaneous application of Staphylococcus aureus.
    Results: Skin lesions of DOCK8-deficient patients exhibited type 2 inflammation, and the patients' skin was colonized by Saureus, as in AD. Unlike in AD, DOCK8-deficient patients had a reduced FOXP3:CD4 ratio in their skin lesions, and their skin barrier function was intrinsically intact. Dock8
    Conclusion: Treg cell dysfunction increases susceptibility to allergic skin inflammation in DOCK8 deficiency and synergizes with cutaneous exposure to Saureus to drive eczema in DOCK8 deficiency.
    Sprache Englisch
    Erscheinungsdatum 2024-01-05
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2023.12.020
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  9. Artikel ; Online: A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells.

    Sefer, Asena Pınar / Charbonnier, Louis Marie / Kasap, Nurhan / Akcam, Bengu / Demirkol, Yasemin Kendir / Eltan, Sevgi Bilgic / Ozen, Ahmet / Karakoc-Aydiner, Elif / Baris, Safa

    Journal of clinical immunology

    2020  Band 41, Heft 1, Seite(n) 251–255

    Mesh-Begriff(e) Adolescent ; B-Lymphocytes/metabolism ; Biomarkers ; DNA Mutational Analysis ; Disease Management ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genotype ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Inducible T-Cell Co-Stimulator Protein/genetics ; Lymphocyte Count ; Lymphopenia/diagnosis ; Lymphopenia/genetics ; Lymphopenia/therapy ; Mutation ; Phenotype
    Chemische Substanzen Biomarkers ; ICOS protein, human ; Immunoglobulins, Intravenous ; Inducible T-Cell Co-Stimulator Protein
    Sprache Englisch
    Erscheinungsdatum 2020-10-10
    Erscheinungsland Netherlands
    Dokumenttyp Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-020-00889-1
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

  10. Artikel ; Online: Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls.

    Şentürk, Gizem / Ng, Yuk Yin / Eltan, Sevgi Bilgiç / Başer, Dilek / Ogulur, Ismail / Altındirek, Didem / Fırtına, Sinem / Yılmaz, Hülya / Kocamış, Burcu / Kıykım, Ayça / Camcıoğlu, Yıldız / Ar, Muhlis Cem / Sudutan, Tuğçe / Beken, Serdar / Temel, Şehime G / Alanay, Yasemin / Karakoc-Aydiner, Elif / Barış, Safa / Özen, Ahmet /
    Özbek, Uğur / Sayitoğlu, Müge / Hatırnaz Ng, Özden

    Scandinavian journal of immunology

    2022  Band 95, Heft 3, Seite(n) e13130

    Abstract: T cell receptor excision circles (TRECs) and kappa-deleting excision circles (KRECs) are DNA fragments potentially indicative of T and B cell development, respectively. Recent thymic emigrants (RTEs) are a subset of peripheral cells that may also ... ...

    Abstract T cell receptor excision circles (TRECs) and kappa-deleting excision circles (KRECs) are DNA fragments potentially indicative of T and B cell development, respectively. Recent thymic emigrants (RTEs) are a subset of peripheral cells that may also represent thymic function. Here, we investigated TREC/KREC copy numbers by quantitative real-time PCR in the peripheral blood of patients with primary immunodeficiencies (PIDs, n = 145) and that of healthy controls (HCs, n = 86) and assessed the correlation between RTEs and TREC copy numbers. We found that TREC copy numbers were significantly lower in children and adults with PIDs (P < .0001 and P < .002, respectively) as compared with their respective age-matched HCs. A moderate correlation was observed between TREC copies and RTE numbers among children with PID (r = .5114, P < .01), whereas no significant correlation was detected between RTE values and TREC content in the HCs (r = .0205, P = .9208). Additionally, we determined TREC and KREC copy numbers in DNA isolated from the Guthrie cards of 200 newborns and showed that this method is applicable to DNA isolated from both peripheral blood samples and dried blood spots, with the two sample types showing comparable TREC and KREC values. We further showed that RTE values are not always reliable markers of T cell output. Although additional confirmatory studies with larger cohorts are needed, our results provide thresholds for TREC/KREC copy numbers for different age groups.
    Mesh-Begriff(e) Adolescent ; Adult ; B-Lymphocytes/immunology ; Child ; Child, Preschool ; DNA/genetics ; DNA/immunology ; Female ; Hematopoiesis/genetics ; Hematopoiesis/immunology ; Humans ; Infant ; Infant, Newborn ; Lymphocyte Activation/immunology ; Male ; Middle Aged ; Neonatal Screening/methods ; Real-Time Polymerase Chain Reaction/methods ; Receptors, Antigen, T-Cell/genetics ; Receptors, Antigen, T-Cell/immunology ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/immunology ; T-Lymphocytes/immunology ; Young Adult
    Chemische Substanzen Receptors, Antigen, T-Cell ; DNA (9007-49-2)
    Sprache Englisch
    Erscheinungsdatum 2022-01-03
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 120476-2
    ISSN 1365-3083 ; 0300-9475
    ISSN (online) 1365-3083
    ISSN 0300-9475
    DOI 10.1111/sji.13130
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

Zum Seitenanfang