Search results for: Elif Karakoc‐Aydiner

Items from 1 to 20 out of 34 results

article

Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity

Zeynep Meric, Betul Gemici Karaaslan, Ezgi Yalcin Gungoren, Melika Bektas Hortoglu, more

Pediatric Allergy and Immunology > 35 > 6 > n/a - n/a

Background Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented. Methods The demographic, clinical, immunologic, and genetic characteristics of patients with confirmed DCLRE1C variants diagnosed between...

article

Comparing the levels of CTLA‐4‐dependent biological defects in patients with LRBA deficiency and CTLA‐4 insufficiency

Mehmet C. Catak, Bengu Akcam, Sevgi Bilgic Eltan, Royala Babayeva, more

Allergy > 77 > 10 > 3108 - 3123

Background Lipopolysaccharide‐responsive beige‐like anchor protein (LRBA) deficiency and cytotoxic T‐lymphocyte protein‐4 (CTLA‐4) insufficiency are recently described disorders that present with susceptibility to infections, autoimmunity, and lymphoproliferation. Clinical and immunological comparisons of the diseases with long‐term follow‐up have not been previously reported. We sought to compare...

article

A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8⁺ T cells

Royala Babayeva, Cedric Mongellaz, Ibrahim Serhat Karakus, Murat Cansever, more

Pediatric Allergy and Immunology > 33 > 3 > n/a - n/a

article

Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

Burcu Kolukisa, Dilek Baser, Bengu Akcam, Jeffrey Danielson, more

Allergy > 77 > 3 > 1004 - 1019

Background Biallelic loss‐of‐function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV‐related smooth muscle tumors. Clinical and immunological characterizations of the disease with long‐term follow‐up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological...

article

Food immunotherapy practice: Nation differences across Europe, the FIND project

Pablo Rodríguez del Río, Alberto Alvarez‐Perea, Katharina Blumchen, Davide Caimmi, more

Allergy > 77 > 3 > 920 - 932

Background Food allergen immunotherapy (FA‐AIT) practice is known to vary globally. This project aims to identify and characterize European centres performing FA‐AIT. Methods An EAACI task force conducted an online survey to gather relevant information regarding FA‐AIT practice and setting‐specific resources after reviewing the published literature and congress abstracts throughout Europe. Results...

article

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Gizem Şentürk, Yuk Yin Ng, Sevgi Bilgiç Eltan, Dilek Başer, more

Scandinavian Journal of Immunology > 95 > 3 > n/a - n/a

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...

article

Adverse COVID‐19 outcomes in immune deficiencies: Inequality exists between subclasses

Elif Karakoc Aydiner, Sevgi Bilgic Eltan, Royale Babayeva, Omer Aydiner, more

Allergy > 77 > 1 > 282 - 295

Background Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In a multicenter prospective cohort, we evaluated the outcome of SARS‐CoV‐2 infection among IEI subjects and analyzed genetic and immune characteristics that determine adverse COVID‐19 outcomes. Methods We studied 34 IEI patients (19M/15F,...

article

Parents of ataxia‐telangiectasia patients display a distinct cellular immune phenotype mimicking ATM‐mutated patients

Ismail Ogulur, Tugce Ertuzun, Burcu Kocamis, Yasemin Kendir Demirkol, more

Pediatric Allergy and Immunology > 32 > 2 > 349 - 357

Background Heterozygous relatives of ataxia‐telangiectasia (AT) patients are at an increased risk for certain AT‐related manifestations. We also show that there is an increase of infection frequency in parents of AT patients. Thus, we hypothesized that the parents might exhibit immune alterations similar to their affected children. Methods Lymphocyte phenotyping to enumerate T‐ and B‐cell subsets...

article

Interleukin 12‐23 deficiency in the interferon gamma pathway in a 6‐month‐old toddler who has BCG vaccine complications

Burcu Bursal Duramaz, Özden Türel, Gülşen Akkoç, Can Yilmaz Yozgat, more

Dermatologic Therapy > 33 > 6 > n/a - n/a

article

Hematopoietic stem cell transplantation in CD40 ligand deficiency: A single‐center experience

Dilara Fatma Kocacık Uygun, Vedat Uygun, Gülsün Tezcan Karasu, Hayriye Daloğlu, more

Pediatric Transplantation > 24 > 6 > n/a - n/a

Deficiency of the CD40L, expressed on the surface of T lymphocytes, is caused by mutations in the glycoprotein CD40L (CD154) gene. Resulting defective humoral and cellular responses cause a clinical presentation that includes recurrent sinopulmonary bacterial infections, opportunistic infections, sclerosing cholangitis, neutropenia, and autoimmune manifestations. HSCT represents the only curative...

article

The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study

Sukru Cekic, Ayse Metin, Caner Aytekin, Neslihan Edeer Karaca, more

Pediatric Allergy and Immunology > 31 > 5 > 528 - 536

Background There are no data regarding the prevalence of malignancies in patients with primary immunodeficiency (PID) in Turkey. Along with the prevalence of malignancy, we aimed to present the types of malignancy and define the underlying immune deficiency of the patients. Method Between the years 1992 and 2018, from five tertiary immunology clinics, fifty‐nine patients with PID who developed...

article

ILC3 deficiency and generalized ILC abnormalities in DOCK8‐deficient patients

Ahmet Eken, Murat Cansever, Fatma Zehra Okus, Serife Erdem, more

Allergy > 75 > 4 > 921 - 932

Background Dedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the autosomal recessive hyper‐IgE syndrome (HIES). We previously reported the selective loss of group 3 innate lymphoid cell (ILC) number and function in a Dock8‐deficient mouse model. In this study, we sought to test whether DOCK8 is required for the function and maintenance of ILC subsets in humans. Methods Peripheral...

article

Malignancy and lymphoid proliferation in primary immune deficiencies; hard to define, hard to treat

Ayca Kiykim, Nursah Eker, Ozlem Surekli, Ercan Nain, more

Pediatric Blood & Cancer > 67 > 2 > n/a - n/a

Background Regarding the difficulties in recognition and management of the malignancies in primary immune deficiencies (PIDs), we aimed to present the types, risk factors, treatment options, and prognosis of the cancers in this specific group. Methods Seventeen patients with PID who developed malignancies or malignant‐like diseases were evaluated for demographics, clinical features, treatment,...

article

Immune system defects in DiGeorge syndrome and association with clinical course

Ercan Nain, Ayca Kiykim, Ismail Ogulur, Nurhan Kasap, more

Scandinavian Journal of Immunology > 90 > 5 > n/a - n/a

We evaluated 18 DiGeorge syndrome (DGS) patients and aimed to investigate the immunological changes in this population. DGS patients with low naive CD4⁺T and CD8⁺T cells were defined as high‐risk (HR) patients, whereas patients with normal numbers of naive CD4⁺ and CD8⁺T cells were defined as standard risk (SR) patients. Level of serum IgM, CD3⁺ T cell counts and percentages of class‐switched memory...

article

Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation

Ayca Kiykim, Louis Marie Charbonnier, Arzu Akcay, Elif Karakoc-Aydiner, more

Journal of Clinical Immunology > 2019 > 39 > 1 > 37-44

Purpose Human signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging from chronic mucocutaneous candidiasis and autoimmunity to combined immunodeficiency (CID). So far, there is very limited experience with hematopoietic stem cell transplantation (HSCT) as a therapeutic modality in this disorder. Here, we describe...

article

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Federica Barzaghi, Laura Cristina Amaya Hernandez, Benedicte Neven, Silvia Ricci, more

Journal of Allergy and Clinical Immunology > 2018 > 141 > 3 > 1036-1049.e5

Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.This analysis sought to evaluate disease onset, progression,...

article

Prevalence of obesity in paediatric psoriasis and its impact on disease severity and progression

Tulin Ergun, Dilek Seckin Gencosmanoglu, Elif Karakoc‐Aydiner, Andac Salman, more

Australasian Journal of Dermatology > 58 > 4 > e182 - e187

Background/Objectives The current literature suggests there is a possible connection between paediatric psoriasis and obesity. However, there is a paucity of research on the influence of increased adiposity on the severity of paediatric psoriasis and disease progression. We aimed to compare the prevalence of being overweight or obese in paediatric psoriasis patients and controls and assess the potential...

article

Basophil activation test for inhalant allergens in pediatric patients with allergic rhinitis

Ismail Ogulur, Ayca Kiykim, Safa Baris, Ahmet Ozen, more

International Journal of Pediatric Otorhinolaryngology > 2017 > 97 > C > 197-201

Flow cytometric quantification of in vitro basophil activation can be quite performant and reliable tool to measure IgE-dependent allergen-specific responses in allergic patients. Current study aimed to evaluate the clinical relevance of basophil activation test (BAT) for the diagnosis of pediatric grass pollen and house dust mite (HDM) allergies.Forty-seven patients suffering from allergic rhinitis...

article

Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide

Nirali N. Shah, Alexandra F. Freeman, Helen Su, Kristen Cole, more

Biology of Blood and Marrow Transplantation > 2017 > 23 > 6 > 980-990

Dedicator-of-cytokinesis 8 (DOCK8) deficiency, a primary immunodeficiency disease, can be reversed by allogeneic hematopoietic stem cell transplantation (HSCT); however, there are few reports describing the use of alternative donor sources for HSCT in DOCK8 deficiency. We describe HSCT for patients with DOCK8 deficiency who lack a matched related or unrelated donor using bone marrow from haploidentical...

article

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

Ayca Kiykim, Wojciech Garncarz, Elif Karakoc-Aydiner, Ahmet Ozen, more

Clinical Immunology > 2016 > 165 > C > 1-3

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INFONA - science communication portal

Search results for: Elif Karakoc‐Aydiner

Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity

Comparing the levels of CTLA‐4‐dependent biological defects in patients with LRBA deficiency and CTLA‐4 insufficiency

A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8⁺ T cells

Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

Food immunotherapy practice: Nation differences across Europe, the FIND project

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Adverse COVID‐19 outcomes in immune deficiencies: Inequality exists between subclasses

Parents of ataxia‐telangiectasia patients display a distinct cellular immune phenotype mimicking ATM‐mutated patients

Interleukin 12‐23 deficiency in the interferon gamma pathway in a 6‐month‐old toddler who has BCG vaccine complications

Hematopoietic stem cell transplantation in CD40 ligand deficiency: A single‐center experience

The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study

ILC3 deficiency and generalized ILC abnormalities in DOCK8‐deficient patients

Malignancy and lymphoid proliferation in primary immune deficiencies; hard to define, hard to treat

Immune system defects in DiGeorge syndrome and association with clinical course

Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Prevalence of obesity in paediatric psoriasis and its impact on disease severity and progression

Basophil activation test for inhalant allergens in pediatric patients with allergic rhinitis

Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

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