Neutropenia in Primary Immunodeficiency Diseases

Phagocytes including neutrophil granulocytes and macrophages are important cells of the innate immune system whose primary function is to ingest and destroy microorganisms. Neutrophils help their host fight infections by phagocytosis, degranulation, and neutrophil extracellular traps. Neutrophils are the most common type of circulating white blood cells and the principal cell type in acute inflammatory reactions. A total absence of neutrophils or a significant decrease in their number leads to severe immunodeficiency that renders patients vulnerable to recurrent infections by Staphylococcus aureus and Gram-negative bacteria being the most life-threatening. Neutropenia may be classified as mild, moderate or severe in terms of numbers in the peripheral blood, and intermittent, cyclic, or chronic in terms of duration. Besides well-known classic severe congenital neutropenia, chronic neutropenia appears to be associated with an increasing number of primary immunodeficiency diseases (PIDs), including those of myeloid and lymphoid lineage. A comprehensive overview of the diverse clinical presenting symptoms, classification, aetiological and genetic etiologies of chronic isolated and syndromic neutropenia is aimed to be reviewed

The Quality of Life and Mental Health in Children with Primary Immunodeficiency

Primary immunodeficiency disorders (PIDs) are characterized by recurrent and numerous infections, autoimmune disorders, and malignancies. These diseases are a heterogeneous group that contains many disorders caused by the disruption of the immune system. Despite being seen rarely, PIDs lead to serious morbidity and mortality. Children and adolescents with PIDs are expected to have a higher prevalence of psychopathologies and a lower level of the health quality of life In this text, we aim to review and summarize the current literature

Nöral tüp defekti görülen annelerde metilentetrahidrofolat redüktaz gen polimorfizmlerinin araştırılması

Bu tezin, veri tabanı üzerinden yayınlanma izni bulunmamaktadır. Yayınlanma izni olmayan tezlerin basılı kopyalarına Üniversite kütüphaneniz aracılığıyla (TÜBESS üzerinden) erişebilirsiniz.ÖZET Nöral tüp defektleri(NTD) gelişen embryoda nöral tüpün kapanmasında komplet veya parsiyel malformasyondan kaynaklanan konjenital anomalilerdir. NTD etiolojisinde nutrisyonel faktörler, folik asid.vitamin B12 eksikliği, folat metabolizması ile ilgili bozukluklar, çeşitli çevresel ve sosyoekonomik faktörler ile genetik faktörler ve gebelik süresince annenin geçirdiği hastalıklar ve anneye uygulanan medikasyonlar yer almaktadır. 5,10 metilentetrahidrofolat redüktaz (MTHFR) folat bağımlı homosistein metabolizmasında yer alan anahtar enzimlerdendir. Bu çalışmada NTD nedeniyle gebeliği sonlandırılmış olan ve nöral tüp def ekti i çocuğu olan annelerde MTHFR genindeki C677 T ve A298 A polimorfizmlerinin araştırılması, etyolojisinde MTHFR gen polimorfizmi olan NTD olgularının sıklığının saptanması, perikonsepsiyonel yüksek doz folik asid desteği ile NTD riskinin azaltılması.uygulanan folik asid proflaksisinin doz ve süresinin ayarlanması ve NTD açısından tarama testi olarak kullanılması amaçlanmıştır. EÜTF Kadın Hastalıkları ve Doğum ABD izlenmiş ve antenatal dönemde saptanmış nöral tüp defekti nedeni ile gebeliği sonlandırılmış olan anneler ile EÜTF Çocuk Cerrahisi ABD ve Nöroşirurji ABD tarafından izlenmekte olan nöral tüp defekti olan olguların anneleri çalışmaya alınmıştır. NTD olan 45 anne ve sağlıklı gebeliği olan 41 kontrol grubunda MTHFR genindeki C677T ve A1298C polimorfizmleri ters hibridizasyon yöntemi ile bakılmıştır. Nöral tüp defektli doğum öyküsü olan anneler ve kontrol grubuna daha önceden NTD öyküsü, annenin mesleği, baba mesleği.eğitim durumu, akraba evliliği, gebelik süresince vitamin preparatı kullanımı, gebelikte sigara içme, gebelikte alkol alma, akut enfeksiyon hastalığı, doğum şekli ilaç kullanımı, mesleksel veya hobi nedeni ile maruz kalınan toksik maddeler, aile öyküsü, gebelik öyküsü.beslenme durumu, perikonsepsiyonel oral kontraseptif kullanımı ile ilgili bilgileri içeren anket uygulanmıştır. Sonuçta, NTD li çocuğu olan olgu grubunda annelerin parite ve abortus sayıları daha yüksek, annelerin gebelik döneminde multivitamin alma oranı daha düşük, akraba evliliği daha sık ve MTHFR gen polimorfizmlerinden C677T polimorfızminin anlamlı olarak daha yüksek görüldüğü bulunmuştur. 6

Common variable immunodeficiency: familial inheritance and autoimmune manifestations in two siblings

WOS: 000276572900015PubMed ID: 20402074Edeer-Karaca N, Gulez N, Aksu G, Kutukculer N. Common variable immunodeficiency: familial inheritance and autoimmune manifestations in two siblings. Turk J Pediatr 2010; 52: 89-93. Common variable immunodeficiency (CVID) is an immunodeficiency syndrome characterized by generalized defective antibody production and recurrent sinopulmonary bacterial infections. Autoimmune disease is common in CVID, occurring in approximately 20% of patients, with a slight female predominance. Familial inheritance of CVID is very rare, and we here report two siblings with CVID presenting remarkable autoimmune manifestations such as relapsing polychondritis, juvenile idiopathic arthritis and chronic inflammatory bowel disease. Autoimmune and inflammatory complications showed minimal improvement under regular intravenous immunoglobulin replacement therapy, prophylactic antibiotics and immunosuppressives in these patients

CD4(+)CD25(+)Foxp3(+) T regulatory cells, Th1 (CCR5, IL-2, IFN-gamma) and Th2 (CCR4, IL-4, IL-13) type chemokine receptors and intracellular cytokines in children with common variable immunodeficiency

WOS: 000375028200010PubMed ID: 26684629Common variable immunodeficiency (CVID) is a heterogeneous group of primary antibody deficiencies characterized by decreased serum immunoglobulin G along with a decrease in serum IgA and/or IgM, defective specific antibody production, and recurrent bacterial infections. Abnormal lymphocyte trafficking, dysregulated cellular responses to chemokines, and uncontrolled T cell polarization may be involved in the pathogenesis and may help to understand the clinical complications. We evaluated T helper cell subsets (chemokine receptors CCR4, CCR5, and CCR7), expressions on T lymphocytes, intracellular cytokines - IL-2, IL-4, IL-13, IFN- gamma-on CD4(+) T cells, and expression of CD4(+)CD25(+)Foxp3(+) regulatory T cells of 20 CVID patients and 26 healthy controls. Autoimmune clinical findings and other complications were also determined. Percentages and absolute numbers of CD4(+)CD25(+) Foxp3(+) cells did not show any significant difference between CVID cases and healthy controls nor between severe and moderate disease patients. The only significant difference regarding Th1 and Th2 type intracellular cytokines was the decreased absolute numbers of CD3(+)CD4(+)IL4(+) cells in CVID cases. There were some findings about T helper cell type dominance in CVID patients such as positive correlation between hepatomegaly and high IL-2 and IFN-gamma in CD3(+)CD4(+) cells and very high expression of CCR5 (Th1) on CD3(+)CD4(+) cells in patients with granuloma. Th1 (CCR5) and Th2 (CCR4) type chemokine receptors did not show any dominance in CVID cases. However, frequencies of CCR7 expressing CD3(+) T cells, CD3(+)CD4(+) T helper cells and CD3(+)CD8(+) T cytotoxic cells were significantly lower in severe CVID patients. In addition, presence of autoimmune clinical findings was negatively correlated with CCR7(+) cells. As CCR7 is a key mediator balancing immunity and tolerance in the immune system, the abnormality of this mediator may contribute to the profound immune dysregulation seen in CVID. In addition, Th1 cells seem to be more involved in the disease pathogenesis than Th2 cells.TUBITAK (The Scientific and Technological Research Council of Turkey)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [112S022]; European Research Projects on Rare Diseases (E-RARE)This work was supported by a grant (no. 112S022) from TUBITAK (The Scientific and Technological Research Council of Turkey) in association with European Research Projects on Rare Diseases (E-RARE)