Does the hyper IgM phenotype affect prognosis in ataxia telangiectasia?

Objective: To evaluate the characteristics of the patients who were followed-up with the diagnosis of ataxia telangiectasia (AT) and to assess the relationship between the hyper IgM (HIGM) phenotype and their prognosis. Materials and Methods: From 2007 to 2019, the study included 68 patients aged 3-35 years who were followed-up with the diagnosis of AT. We retrospectively evaluated the clinical and immunological characteristics and follow-up results. Results: There were 36 girls and 32 boys with a median follow-up of 10 years (1-12 years). The most common complaints upon admission were unsteady walk in 87%, infection in 6%, presence of a family history in 6%, and intracranial mass in 1%. The marriage was consanguineous in 85% of the parents. Ataxia was seen in 100% of the patients, telangiectasia in 97%, and immune deficiency in 88%. Bronchiectasis was observed in 23.5% of the patients, chronic diarrhea in 19%, lymphoproliferation in 15%, malignancy in 10%, autoimmunity in 10%, liver failure in 6%, and granulomatous skin lesions in 6%. Thirteen patients (19%) died during follow-up. The HIGM phenotype was identified in 31% of the patients. Recurrent upper and lower respiratory tract infections (p=0.004 and p<0.0001, respectively), liver failure (p=0.005), and autoimmune diseases (p=0.023) were significantly higher in the HIGM (+) group than the HIGM (-) group. Life expectancy was shorter in the HIGM (+) group with 14 ± 0.73 years (CI 95% 12.55-15.44) compared to the HIGM (-) group with 18 ± 1.64 years (CI 95% 14.77-21.22) (p=0.054). Conclusion: During the early childhood period and before the characteristic findings of AT develop, the patients might present at a hospital with infections, autoimmunity, lymphoproliferation, or malignancy. Physical examination, high alpha-fetoprotein (AFP) levels and immunological testing provide important data for the correct diagnosis. The HIGM phenotype aggravates the clinical course of the disease resulting in fatalities at an earlier age and at a higher rate

Outcome of treosulfan-based reduced-toxicity conditioning regimens for HSCT in high-risk patients with primary immune deficiencies

Introduction: HSCT is the curative therapeutic option in PIDs. Due to the increase in survival rates, reduced-toxicity conditioning regimens with treosulfan have become another alternative. The purpose of this retrospective study was to analyze the outcome of treosulfan-based conditioning before HSCT for patients with PID. Method: A total of 15 patients that received a treosulfan-based conditioning regimen for HSCT were recruited. Type of diagnosis, donor and stem cell source, pretransplant organ damage, infections, engraftment, chimerism, and transplant-related toxicities were analyzed. Results: At a median follow-up time of 32 months, the overall survival was 86.7%. Following HSCT, 14 of 15 patients had engraftment, with 86.7% of the cohort having full-donor chimerism. The most common toxicity was seen on the skin (53.3%). Acute GVHD and chronic GVHD were documented in 53% and 20% of the study population, respectively. Although the cohort consisted of patients with pretransplant liver damage, SOS manifestations were documented in 20%. Conclusion: Treosulfan-based conditioning regimens before HSCT are associated with lower toxicity compared to myeloablative regimens, are safe, and have high engraftment rates with full-donor chimerism in patients having PID, regardless of the specified genetic diagnosis and donor type

Astımlı Çocukların Serum D Vitamini ve Çinko Düzeyleri ile Klinik Bulguları Arasında Bir İlişki Var mı?

Objectives: It is reported that deficiencies in vitamin D and zinc are associated with asthma. In thisstudy we aimed to investigate the relationship between clinic findings of asthmatic children and vitaminD and zinc levels.Materials and Methods: This prospective study included a total of 149 asthmatics and 97 healthychildren with an age range of 5 to 17 years. All of the participants were evaluated for serum levels of 25 ?hydroxyvitamin D (25(OH)D) and zinc, dietary habits, the rate of respiratory tract infections, hospitalvisits and levels of sunlight exposure.Results: Serum vitamin D and zinc levels in asthmatic children (7.7±5.29 ng/ml), (64±16.3 mcg/dl) weresignificantly lower than that in healthy children (12.3±12.87 ng/ml), (69±26.2 mcg/dl) (p< 0.015),respectively. A relationship was detected between the frequency of infection and vitamin D level’s being<10ng/ml (p < 0.001), while no relationship was detected between the frequency of infection and zinclevel. No relationship was detected between pulmonary function, nutrition and the levels of vitamin Dand zinc. However, a relationship was detected between vitamin D levels and exposure to sunlight.Conclusion: Our results showed that asthmatic children had lower vitamin D and zinc levels thanhealthy children. Very low levels of vitamin D were found to be associated with an increased rate ofinfection and required more medication and hospitalization.Amaç: Vitamin D ve çinko eksikliğinin astım ile ilişkili olduğu bildirilmektedir. Bu çalışmada astımlı çocukların klinik bulguları ile vitamin D ve çinko düzeyleri arasındaki ilişkiyi araştırmayı istedik. Materyal ve Metot: Bu prospektif çalışmaya yaşları 5?17 arasında değişen 149 astımlı ve 97 sağlıklı çocuk dahil edildi. Tüm katılımcıların serum 25 hidroksivitamin D (25(OH)D) ve çinko düzeyleri ölçüldü, diyet alışkanlıkları, bir yıldaki solunum yolu enfeksiyonu sıklıkları, hastane başvuruları ve güneş ışığına maruziyet süreleri sorgulandı. Bulgular: Astımlı çocukların serum D vitamini ve çinko düzeyleri sırasıyla (7,7±5,29 ng/ml), (64±16,3 mcg/dl) sağlıklı çocuklardan (12,3±12,87 ng/ml), (69±26,2 mcg/dl) belirgin şekilde düşük bulundu (p <0,001) (p <0,015). Serum D vitamini düzeyinin 10ng/ml'nin altında olması ile enfeksiyon sıklığı arasında ilişki bulunurken çinko düzeyi ile ilişki saptanmadı. Pulmoner fonksiyonlar, beslenme ile D vitamini düzeyi arasında ilişki saptanmadı. Ancak güneşe maruziyet ile D vitamini düzeyi arasında bir ilişki saptandı. Sonuç: Bizim sonuçlarımız astımlı çocukların sağlıklı çocuklardan daha düşük D vitamini ve çinko düzeyine sahip olduğunu göstermektedir. D vitamininin çok düşük düzeylerde olması artmış enfeksiyon riski, daha çok tedavi ihtiyacı ve hastane yatışı ile ilişkili ulundu

Immunoglobulin Isotype Deficiency Together with Allergic Diseases*

Giriş: Sık enfeksiyon, süt çocukluğu ve okul öncesi dönemde polikliniklere başvuru nedenleri arasında ilk sıralarda yer almaktadır. Çalışmamızda, sık enfeksiyon yakınması ile başvuran ve immünglobulin izotip eksikliği saptanan hastalarda allerjik hastalık sıklığının araştırılması amaçlanmıştır. Gereç ve Yöntem: Ankara Üniversitesi Tıp Fakültesi Çocuk İmmünoloji - Allerji polikliniğine Ocak 2013 - Şubat 2016 tarihleri arasında sık enfeksiyon yakınması ile başvuran 2592 hastanın dosya kayıtları geriye dönük olarak incelendi. Bulgular: Hastalarımızın 258'inde (%9.9) immünglobulin izotip eksikliği saptandı. Yaşları 6 ile 204 ay arasında değişen hastaların 151'i (%58.5) erkek, 107'si (%41.5) kız idi. %17'sinde eş akrabalığı öyküsü vardı. Hastaların 12'sinde (%4.6) selektif IgA eksikliği, 31'inde (%12) parsiyel IgA eksikliği, 53'ünde (%20.5) izole IgM eksikliği, 117'sinde (%45.3) süt çocuğunun geçici hipogamaglobulinemisi saptandı. 33'ü (%12.7) uzamış hipogamaglobulinemi ve 12'si (%4.6) tanımlanamayan hipogamaglobulinemi olarak değerlendirildi. 173 hastanın (%67) immünglobulin izotip eksikliği yanısıra allerjik bir hastalık tanısı da aldığı saptandı. Bu tanıların 90'ı astım, 66'sı atopik dermatit, 47'si allerjik rinokonjonktivit ve 44'ü geçici infantil vizing idi. İmmünglobulin izotip eksiklikleri arasında allerjik bir hastalık eşlik etme olasılığı açısından istatistiksel olarak anlamlı fark saptanmadı (p=0.83). Sonuç: Hastalarımızda immünoglobulin izotip eksikliğinin tipinden bağımsız olarak allerjik bir hastalık eşlik etme oranı yüksek bulunmuştur. Sık enfeksiyon yakınması ile başvuran hastalarda immün yetmezlik açısından değerlendirme yapılırken allerji semptomları da sorgulanmalıdır.Objective: Frequent infection is the most common reason for presentation to outpatient clinics during infancy and in the pre-school period. The aim of this study was to evaluate the incidence of allergic disorders in patients who apply to our allergy-immunology clinic for frequent infections and receive a diagnosis of immunoglobulin isotype deficiency.Materials and Methods: The medical records of 2592 patients who presented to the Department of Pediatric Immunology-Allergy of the Ankara University School of Medicine between January 2013 and February 2016 complaining of frequent infections were investigated retrospectively. Results: 258 (9.9%) patients had immunoglobulin isotype deficiency. The age range was 6-204 months. 151 (58.5%) were male and 107 (41.5%) were female. 17% had parental consanguinity. The diagnosis was selective IgA deficiency in 12 (4.6%), partial IgA deficiency in 31 (12%), isolated IgM deficiency in 53 (20.5%), and transient hypogammaglobulinemia of infancy in 117 (45.3%). 33 (12.7%) were considered as prolonged hypogammaglobulinemia and 12 (4.6%) as unclassified hypogammaglobulinemia. 173 (67%) patients had an allergic disease besides immunoglobulin isotype deficiency. The allergic diagnoses of the patients were asthma in 90, atopic GiRiş hastalık eşlik etme olasılığı a&ccedil;ısından istatistiksel olarak anlamlı fark saptanmadı (p=0.83).Sonu&ccedil;: Hastalarımızda imm&uuml;noglobulin izotip eksikliğinin tipinden bağımsız olarak allerjik bir hastalık eşlik etme oranı y&uuml;ksek bulunmuştur. Sık enfeksiyon yakınması ile başvuran hastalarda imm&uuml;n yetmezlik a&ccedil;ısından değerlendirme yapılırken allerji semptomları da sorgulanmalıdır. dermatitis in 66, allergic rhinoconjunctivitis in 47 and transient wheezing of infancy in 44. There was no statistical difference between the isotypes regarding co-incidence of allergic disease and immunoglobulin deficiency (p=0.83).Conclusion: Rates of concurrence with an allergic disease regardless of the type of immunoglobulin isotype deficiency was high in our patients. One must consider that immunodeficiency may be combined with recurrent infection and atopy in patients presenting with allergy symptoms and it is important to investigate accordingly for the appropriate management of treatment

Does the Hyper IgM Phenotype Affect Prognosis in Ataxia Telangiectasia?

Objective: To evaluate the characteristics of the patients who were followed-up with the diagnosis of ataxia telangiectasia (AT) and to assess the relationship between the hyper IgM (HIGM) phenotype and their prognosis

Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects (Immunologic Research, (2022), 70, 1, (44-55), 10.1007/s12026-021-09242-z)

The original published version of this article contained a mistake in one of the afliations. The correct afliation of author Manolya Kara (7) should read

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1

In 15 Turkish LAD-1 patients and controls, we assessed the impact of pathogenic ITGB2 mutations on Th17/Treg differentiation and functions, and innate lymphoid cell (ILC) subsets. The percentage of peripheral blood Treg cells, in vitro-generated induced Tregs differentiated from naive CD4+ T cells were decreased despite the elevated absolute counts of CD4+ cells in LAD-1 patients. Serum IL-23 levels were elevated in LAD-1 patients. Post-curdlan stimulation, LAD-1 patient-derived PBMCs produced more IL-17A. Additionally, the percentages of CD18-deficient Th17 cells expanded from total or naïve CD4+ T cells were higher. The blood ILC3 subset was significantly elevated in LAD-1. Finally, LAD-1 PBMCs showed defects in trans-well migration and proliferation and were more resistant to apoptosis. Defects in de novo generation of Tregs from CD18-deficient naïve T cells and elevated Th17s, and ILC3s in LAD-1 patients' peripheral blood suggest a type 3-skewed immunity and may contribute to LAD-1-associated autoimmune symptoms