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Öğe Ant-2 Glycoprotein I Antibodies in Children with Rheumatologic Disorders(Springer India, 2019) Azarsiz, Elif; Eman, Gamze; Akarcan, Sanem Eren; Severcan, Ezgi Ulusoy; Karaca, Neslihan; Aksu, Guzide; Kutukculer, NecilAnti-beta-2-glycoprotein I antibodies (anti-2GPI) which are the main antiphospholipid antibodies that characterize the autoimmune antiphospholipid syndrome are pathogenic and are contributing to thrombosis. We aimed to evaluate the presence and the diagnostic importance of these antibodies in children with different rheumatologic diseases with or without thrombosis risk. A total of 100 children with different rheumatologic diseases evaluated retrospectively. The mean anti-2GPI IgG (p=0.108), IgA (p=0.547), and IgM (p=0.807) levels showed no statistically significant difference between different diagnosis groups. But anti-2GPI IgA and IgM levels were higher in SLE patient group. The mean anti-2GPI IgG (p=0.375), IgA (p=0.811), and IgM (p=0.276) levels were not also showed difference between disease groups with/without predisposition to thrombosis even though concentrations were higher in thrombosis group. In children with rheumatological complaints, anti-2GPI antibody measurements should not be the first diagnostic criteria if vasculitis is not thought as the primary defect underlying the clinical symptoms.Öğe Cut-Off Values of Specific IgE and Skin Prick Test to Predict Oral Food Challenge Positivity in Children with Cow's Milk Allergy(AVES, 2022) Gunaydin, Nursen Cigerci; Akarcan, Sanem Eren; Gulen, Figen; Bal, Cem Murat; Tanac, Remziye; Atasever, Mesude; Demir, EsenObjective: The cut-off values for the skin prick test diameters and cow's milk-specific IgE measurements are used to predict the result of the oral food challenge test for the diagnosis of cow's milk allergy. This study aimed to determine the diagnostic values of skin prick test and cow's milk-specific IgE according to age groups and compare the diagnostic powers of these 2 methods. Materials and Methods: In total, 153 children who had a preliminary diagnosis of cow's milk allergy were evaluated. Group A (n = 90) consisted of cow's milk allergy patients whose diagnosis was confirmed by a positive oral food challenge or a history of anaphylaxis. Group B (n = 63) was composed of patients with a negative oral food challenge. The demographic, clinical, and laboratory findings of 2 groups were compared. Results: The cut-off points for cow's milk-specific IgE and cow's milk-skin prick test were determined as >2.12 kUA/L and >5 mm, respectively. The area under the curve was 0.844 for cow's milk-skin prick test (sensitivity 73%, specificity 84%) and 0.745 for cow's milk-specific IgE (sensitivity 67%, specificity 86%). The diagnostic power of skin prick test was determined to be higher when compared to cow's milk-specific IgE (P=.02). According to the predicted probability curves, decision points for cow's milk-specific IgE and cow's milk-skin prick test with 95% probability were determined as follows, respectively: for <= 24 months: 22 kUA/L, 11.3 mm; for >24 months: 44.1 kUA/, 15.1 mm. The lowest cut-off value with a positive predictive value of 95% and a specificity of 96% was found in patients <1-year-old (>3.3 kUA/L) Conclusion: The use of high probability diagnostic values of communities for specific IgE and skin prick test along with a significant clinical history may provide accurate and rapid diagnosis of cow's milk allergy and facilitate patient follow-up.Öğe Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy(Hindawi Ltd, 2019) Kutukculer, Necil; Puel, Anne; Akarcan, Sanem Eren; Moriya, Kunihiko; Karaca, Neslihan Edeer; Migaud, Melanie; Casanova, Jean-Laurent; Aksu, GuzideDIRA (deficiency of the IL-1Ra) is a rare condition that usually presents in the neonatal period. Patients with DIRA present with systemic inflammation, respiratory distress, joint swelling, pustular rash, multifocal osteomyelitis, and periostitis. Previously, we reported a patient with a novel mutation in IL1RN with a healthy neonatal period, a late-onset of pustular dermatosis, inflammatory arthritis, and excellent response to canakinumab treatment. Herein, we are presenting a new case of late-onset DIRA syndrome, carrying a different mutation and showing different clinical findings. This patient is the first one in the literature with the inflammatory arthritis, nail psoriasis, and onychomycosis and with her remarkable response to monoclonal antibodies. The case responded well and fully recovered after treatment with adalimumab, but not with canakinumab. The DIRA disease can lead to death from multiple organ failures and if recognized early, the treatment with replacement of the deficient protein with biologic agents induces rapid and complete remission. Therefore, clinical symptoms should be learned exactly by the pediatricians, pediatric rheumatologists, and immunologists; and molecular analysis targeting this defect must be performed as early as possible.Öğe Effects of Cow's Milk Components, Goat's Milk and Sheep's Milk Sensitivities on Clinical Findings, and Tolerance Development in Cow's Milk Allergy(Kare Publ, 2021) Gunaydin, Nursen Cigerci; Severcan, Ezgi Ulusoy; Akarcan, Sanem Eren; Bal, Cem Murat; Gulen, Figen; Tanac, Remziye; Demir, EsenObjective: Cow's milk (CM) contains some proteins capable of causing an allergic reaction in a sensitized individual and one of the most common causes of food allergy in childhood. Most of the patients will develop tolerance by the age of 3. In this study, we aimed to evaluate sensitivity to CM allergen components as well as goat's milk (GM) and sheep's milk (SM) cross reactions in cow's milk allergic (CMA) patients and to figure out the risk factors for tolerance non-development. Methods: This is a retrospective cross-sectional study including 66 patients for IgE-mediated CMA with mean age of 38 months. We evaluated the patients in two groups: Group 1 (n=50): Patients who have no tolerance in oral food challenge test; Group 2 (n= 16): Patients who were found tolerant to CM after elimination diet. CM-sIgE, alpha-lactalbumin (ALA)-sIgE, beta-Lactoglobulin (BLG)-sIgE, casein (CAS)-sIgE, GM-sIgE, and SM-sIgE, skin prick tests with CM and GM, and eosinophils in peripheral blood were all compared between two groups. Results: In the whole group, GM-sIgE and SM-sIgE were positive in 84.8% and ALA-sIgE, BLG-sIgE, and CAS-sIgE were positive in, respectively, 69.7%, 62.7%, and 77.3% of the patients. Two groups were similar in terms of age at onset and diagnosis, gender, median elimination period, total IgE levels, CM-sIgE, and eosinophilia (p>0.05). Mean wheal diameters of CM and GM in SPT (p<0.001), GM-sIgE (p=0.03), and SM-sIgE (p=0.01) were significantly higher in Group 1. There was a positive correlation between CM-sIgE and total IgE (p=0.001), eosinophilia percentage (p=0.04), CM wheal diameter in SPT (p=0.001), CAS-sIgE (p<0.001), GM-sIgE (p<0.001), and SM-sIgE (p<0.001) in Group 1. Patients with respiratory symptoms and history of anaphylaxis had higher CM-SPT, CM-sIgE, CAS-sIgE, GM-sIgE, and SM-sIgE (p<0.05) levels. Gastrointestinal and skin symptoms showed no relation with laboratory findings. Tolerance was not developed in any patient with a history of anaphylaxis. Conclusions: As with CM-sIgE levels and high induration diameters in SPT, high CAS-sIgE, SM-sIgE, and GM-sIgE levels are also risk factors for persistence of CMA; anaphylaxis, as a first reaction, may also be a risk factor. High CM-sIgE, CAS-sIgE, SM-sIgE, and GM-sIgE levels are associated with respiratory symptoms.Öğe Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies(Hindawi Ltd, 2017) Akarcan, Sanem Eren; Severcan, Ezgi Ulusoy; Karaca, Neslihan Edeer; Isik, Esra; Aksu, Guzide; Migaud, Melanie; Gurkan, Ferda Evin; Azarsiz, Elif; Puel, Anne; Casanova, Jean-Laurent; Kutukculer, NecilChronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages of lymphocyte subgroups, and in vitro T-cell proliferation responses were normal. She had parenchymal nodules within the lungs and a calcific nodule in the liver. Chronic-recurrent infections with different pathogens leading to significant morbidity suggested combined immunodeficiency, CMC, or Mendelian susceptibility to mycobacterial diseases. Genetic analysis revealed a predefined heterozygous gain-of-function mutation (GOF) (c.1154 C>T, p.Thr385Met) in the gene coding STAT1 molecule. Hematopoietic stem cell transplantation (HSCT) was planned because of severe recurring infections. Patients with STAT1GOFmutations may exhibit diverse phenotypes including infectious and noninfectious findings. HSCT should be considered as an early treatment option before permanent organ damage leading tomorbidity andmortality develops. This case is presented to prompt clinicians to consider STAT1GOFmutations in the differential diagnosis of patientswith chronic Candidiasis and recurrent infections with multiple organisms, since these mutations are responsible for nearly half of CMC cases reported.Öğe Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes(Hindawi Ltd, 2017) Akarcan, Sanem Eren; Karaca, Neslihan; Aksu, Guzide; Bozkaya, Halil; Ayik, Mehmet Fatih; Sahan, Yasemin Ozdemir; Kilinc, Mehmet Arda; Dokumcu, Zafer; Eraslan, Cenk; Divarci, Emre; Alper, Hudaver; Kutukculer, NecilChronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91 phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA genemutation affecting p22(phox) protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD.Öğe Successful management of colchicine resistant familial Mediterranean fever patients with a standardized canakinumab treatment protocol: a case series and literature review(Springer Heidelberg, 2020) Akarcan, Sanem Eren; Dogantan, Seyda; Karaca, Neslihan Edeer; Aksu, Guzide; Kutukculer, NecilFamilial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease characterized by recurrent attacks of fever and serositis. Although colchicine is the first line treatment in FMF, 5-10% of patients do not respond to colchicine. Canakinumab, an anti-IL-1 beta monoclonal antibody, has been reported to be effective and safe in colchicine-resistant FMF patients, but the adequate duration and interval of treatment is still a matter of debate. Aim of this study was to evaluate the success of the standardized treatment protocol for canakinumab applied in our Pediatric Rheumatology Department in colchicine-resistant FMF cases with a review of the literature. Nine patients included in this study had indications for canakinumab use as colchicine resistance and recurrent corticosteroid need for pleural/pericardial effusions. Canakinumab was administered monthly for 6 months (initial treatment), bimonthly for 6 months (maintenance treatment), then treatment was discontinued. For the patients who developed a new attack after one-year treatment period, canakinumab was readministered with 3-month intervals (continuation treatment). the mean follow-up time beginning from the first canakinumab injection was 24.3 +/- 10.2 (6-33) months. None of the patients had an attack during the first-year treatment. Four of the patients developed an attack 9.0 +/- 2.9 (6-12) months after discontinuation of treatment and switched to the continuation treatment period, with no more attacks. We suggest that this standard protocol may be used successfully in colchicine-resistant FMF patients.Öğe Thymic output changes in children with clinical findings signaling a probable primary immunodeficiency(2019) Karaca, Neslihan; Azarsız, Elif; Akarcan, Sanem Eren; Aksu, Güzide; Kütükçüler, NecilThymic maturation evaluation is inevitable for patients with clinical and laboratory findings for a primary immunodeficiency, as the T cellimmunodeficiencies are the most severe type. In this study, we aimed to show the usage of T cell surface molecule “CD31” for the evaluation of thymic output in patients (n: 66) with a large spectrum of findings signing a probable primary immunodeficiency. Besides the classical clinical and laboratory approach for these patients, T cell subpopulations as naive, memory, recent thymic emigrant cells were also investigated. The humoral immunodeficiency (34.8%), combined immunodeficiency (34.8%) and cardiopathy (7.6%) were the most frequent diagnosis groups. CD4+CD45RA+ naive T-cells percentages (p: 0.011) and absolute counts (p: 0.004) and absolute CD4+CD45RA+CD31+ RTE (recent thymic emigrant) cell counts (p: 0.007) were significantly lower in combined immunodeficiency group. Naive T-cells (p: 0.037) and RTE cells (p: 0.032) were also lower in patients who had cardiac surgery in the past. In conclusion, flow cytometric CD31+thymic naive RTE cell evaluation may provide rapid clinical information especially on T-cell immune dysfunction and CD4+CD45RA+CD31+ RTE cells may be used as an alternative to TRECs in the diagnosis of combined immunodeficiencies.Öğe Thymic output changes in children with clinical findings signaling a probable primary immunodeficiency(2019) Karaca, Neslihan; Azarsız, Elif; Akarcan, Sanem Eren; Aksu, Güzide; Kütükçüler, NecilThymic maturation evaluation is inevitable for patients with clinical and laboratory findings for a primary immunodeficiency, as the T cellimmunodeficiencies are the most severe type. in this study, we aimed to show the usage of T cell surface molecule “CD31” for the evaluation of thymic output in patients (n: 66) with a large spectrum of findings signing a probable primary immunodeficiency. Besides the classical clinical and laboratory approach for these patients, T cell subpopulations as naive, memory, recent thymic emigrant cells were also investigated. the humoral immunodeficiency (34.8%), combined immunodeficiency (34.8%) and cardiopathy (7.6%) were the most frequent diagnosis groups. CD4+CD45RA+ naive T-cells percentages (p: 0.011) and absolute counts (p: 0.004) and absolute CD4+CD45RA+CD31+ RTE (recent thymic emigrant) cell counts (p: 0.007) were significantly lower in combined immunodeficiency group. Naive T-cells (p: 0.037) and RTE cells (p: 0.032) were also lower in patients who had cardiac surgery in the past. in conclusion, flow cytometric CD31+thymic naive RTE cell evaluation may provide rapid clinical information especially on T-cell immune dysfunction and CD4+CD45RA+CD31+ RTE cells may be used as an alternative to TRECs in the diagnosis of combined immunodeficiencies.
