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Introduction: When asthmatic patients are exposed to nonspecific agents, they may have acute asthma attacks and according to severity of this attack various levels of hypoxia may occur. Ischemia Modified Albumin (IMA) is a marker that... more
Introduction: When asthmatic patients are exposed to nonspecific agents, they may have acute asthma attacks and according to severity of this attack various levels of hypoxia may occur. Ischemia Modified Albumin (IMA) is a marker that increases fast in serum at 6-10 minutes especially in ischemia. The most important difference of IMA from the other cardiac markers (CK-MB, troponin-I, myoglobin) is that it increases early before necrosis, which means it is a marker of myocardial ischemia. It is not known whether IMA levels change during the asthma attack and also whether IMA can be used as a marker of asthma attacks severity or not. Material And Method: In this study 30 children admitted to emergency service with asthma attack were enrolled. The blood samples of these patients were taken at admission and symptom free period, 14 days after the asthma attack. The control group of 20 healthy children was included in the study. Results: IMA levels of the patients were found to be significantly higher (0.51±0.16 ABSU) than the control group (0.39±0.12 ABSU, p=0.03). IMA levels after asthma attack (0.33±0.08 ABSU) were found to be similar with the control group (p=0.076). We determined that the increased IMA levels during asthma attack decreased after the asthma attack (p=0.001). There is no correlation between IMA levels and oxygen saturation and severity of attack. Conclusion: This study showed that IMA levels are significantly increase during asthma attack and return to normal levels after the attack in children with asthma.
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27 Periodic Fever Syndromes DANIEL L. KASTNER, SUSANNAH BRYDGES, and KEITH M. HULL The periodic fever syndromes are a heterogeneous group of in-herited disorders characterized by recurrent episodes of fever and localized inflammation, most... more
27 Periodic Fever Syndromes DANIEL L. KASTNER, SUSANNAH BRYDGES, and KEITH M. HULL The periodic fever syndromes are a heterogeneous group of in-herited disorders characterized by recurrent episodes of fever and localized inflammation, most commonly ...
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Research Interests: Pediatrics and Medicine
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Severe combined immune deficiency (SCID) is a primary immunodeficiency characterized by impairment in the development and function of lymphocytes and could be a fatal disease if not treated with hematopoietic stem cell transplant in the... more
Severe combined immune deficiency (SCID) is a primary immunodeficiency characterized by impairment in the development and function of lymphocytes and could be a fatal disease if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are differences in SCID diagnostic criteria between different primary immunodeficiency societies. This study aimed to retrospectively evaluate clinical and laboratory findings of the patients followed up with the diagnosis of 59 SCID at our clinic over the past 20 years to develop an algorithm to help diagnosis of SCID for the countries which high ratio of consanguineous marriage and haven’t started TREC assay in their newborn screening program. The mean age at diagnosis was 5.80 ± 4.90 months, delay in diagnosis was 3.29 ± 3.99 months. The most common complaint and physical examination findings were cough and eczematous rash (63%)/organomegaly (61%), respectively. ADA, Artemis, RAG1/2 deficiency were the most common gene...
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ObjectivesTen warning signs of primary immunodeficiency (PID) were suggested by the Jeffrey Modell Foundation (JMF), to increase physician awareness of PID. These warning signs have not yet been evaluated for patients with secondary... more
ObjectivesTen warning signs of primary immunodeficiency (PID) were suggested by the Jeffrey Modell Foundation (JMF), to increase physician awareness of PID. These warning signs have not yet been evaluated for patients with secondary immunodeficiency (SID). This study investigated whether the 10 warning signs used for the diagnosis of PID were also sufficient for the diagnosis of SID, and explored the possibility of additional signs.MethodsThis prospective study was conducted between June and December 2020. The mothers of 162 patients with PID and SID, and mothers of 200 healthy children, were asked to complete a questionnaire about family and personal history in addition to the warning signs of PID developed by the JMF. A JMF score was created by giving one point for each “Yes” answer for the 10 warning signs of PID. Medical records of the patients were evaluated for possible additional warning signs for PID and SID.ResultsThe JMF scores of the PID (3.36 ± 1.65) and SID (3.72 ± 1.12...
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Introduction: When asthmatic patients are exposed to nonspecific agents, they may have acute asthma attacks and according to severity of this attack various levels of hypoxia may occur. Ischemia Modified Albumin (IMA) is a marker that... more
Introduction: When asthmatic patients are exposed to nonspecific agents, they may have acute asthma attacks and according to severity of this attack various levels of hypoxia may occur. Ischemia Modified Albumin (IMA) is a marker that increases fast in serum at 6-10 minutes especially in ischemia. The most important difference of IMA from the other cardiac markers (CK-MB, troponin-I, myoglobin) is that it increases early before necrosis, which means it is a marker of myocardial ischemia. It is not known whether IMA levels change during the asthma attack and also whether IMA can be used as a marker of asthma attacks severity or not. Material And Method: In this study 30 children admitted to emergency service with asthma attack were enrolled. The blood samples of these patients were taken at admission and symptom free period, 14 days after the asthma attack. The control group of 20 healthy children was included in the study. Results: IMA levels of the patients were found to be significantly higher (0.51±0.16 ABSU) than the control group (0.39±0.12 ABSU, p=0.03). IMA levels after asthma attack (0.33±0.08 ABSU) were found to be similar with the control group (p=0.076). We determined that the increased IMA levels during asthma attack decreased after the asthma attack (p=0.001). There is no correlation between IMA levels and oxygen saturation and severity of attack. Conclusion: This study showed that IMA levels are significantly increase during asthma attack and return to normal levels after the attack in children with asthma.
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Juvenile rheumatoid arthritis (JRA) is a complex disease involving the interactions of several cell populations with different mediators. Herein, we report a five-year-old girl with systemic-onset JRA. At admission, peripheral blood... more
Juvenile rheumatoid arthritis (JRA) is a complex disease involving the interactions of several cell populations with different mediators. Herein, we report a five-year-old girl with systemic-onset JRA. At admission, peripheral blood flowcytometric analysis showed the percentages of CD19(+) and CD20(+) B cells were <1%. These values returned to normal on the tenth day of steroid treatment. This is the first report of JRA presented with absence of B lymphocytes in the literature and suggested that lymphocytes subset analysis could change with treatment in patients with JRA. Different clinical signs and symptoms reflecting aspects of JRA are critical for the etiology of the disease and to identify new strategies for treatment.
Research Interests: Rheumatology, Flow Cytometry, Juvenile Idiopathic Arthritis, Rheumatoid Arthritis, Medicine, and 15 moreGenetics of complex disease, Humans, Female, Arthritis, Clinical Sciences, Immune system, Methotrexate, Combination drug therapy, B Lymphocytes, Clinical Signs, Methylprednisolone, Child preschool, Peripheral blood, leukocyte Count, and B cell
The molecular programs involved in regulatory T (Treg) cell activation and homeostasis remain incompletely understood. Here we show that T cell receptor (TCR) signaling in Treg cells induces the nuclear translocation of serine/threonine... more
The molecular programs involved in regulatory T (Treg) cell activation and homeostasis remain incompletely understood. Here we show that T cell receptor (TCR) signaling in Treg cells induces the nuclear translocation of serine/threonine kinase 4 (Stk4), leading to the formation of a Stk4/NF-κB p65/Foxp3 complex that regulates Foxp3 and p65-dependent transcriptional programs. This complex was stabilized by Stk4-dependent phosphorylation of Foxp3 serine 418. Stk4 deficiency in Treg cells, either alone or in combination with its homologue Stk3, precipitated a fatal autoimmune lymphoproliferative disease in mice characterized by decreased Treg cell p65 expression and nuclear translocation, impaired NF-κB p65/Foxp3 complex formation, and defective Treg cell activation. In an adoptive immunotherapy model, over-expression of p65 or the phosphomimetic Foxp3S418E in Stk3/4-deficient Treg cells ameliorated their immune regulatory defects. Our studies identify Stk4 as an essential TCR-responsive regulator of p65-Foxp3-dependent transcription that promotes Treg cell-mediated immune tolerance.
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Purpose: Autosomal recessive dedicator of cytokinesis 8 (DOCK8-/-) and autosomal dominant signal transducer and activator of transcription 3 (STAT3+/-) deficiencies are inborn errors of immunity (IEI) disorders present with the classic... more
Purpose: Autosomal recessive dedicator of cytokinesis 8 (DOCK8-/-) and autosomal dominant signal transducer and activator of transcription 3 (STAT3+/-) deficiencies are inborn errors of immunity (IEI) disorders present with the classic features of eczema and create a dilemma during differentiation from atopic dermatitis (AD). Therefore, an appropriate approach is required for eczema to diagnose DOCK8-/- and STAT3+/- early. Here, we described a set of clinical and immunological variables, including atypical AD localizations and lymphocyte subsets, to differentiate DOCK8-/- or STAT3+/- from AD. Methods: This multicenter study involved 100 patients with DOCK8-/- and STAT3+/- and moderate/severe AD. We recruited disease manifestations, including detailed localizations of eczema, infections, and allergy. Principle Component analysis (PCA) was used to discriminate DOCK8-/- or STAT3+/- from AD. Results: There were 43 patients with DOCK8-/-, 23 with STAT3+/-, and 34 with AD. Pneumonia, seve...
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Amaç: DCLRE1C genindeki mutasyonlar Artemis proteininin fonksiyonel olarak bozulmasına neden olur ve T/B hücre gelişimi olumsuz etkilenir. Bu mutasyonun bir sonucu olarak, genellikle ağır kombine ve kombine immün yetmezlik (CID) kliniği... more
Amaç: DCLRE1C genindeki mutasyonlar Artemis proteininin fonksiyonel olarak bozulmasına neden olur ve T/B hücre gelişimi olumsuz etkilenir. Bu mutasyonun bir sonucu olarak, genellikle ağır kombine ve kombine immün yetmezlik (CID) kliniği ortaya çıkar. Akraba evliliğinin yaygın olduğu bölgemizde bu mutasyona bağlı CID vakalarına sıklıkla rastlanmaktadır. Bu nedenle şüpheli hastalar ilgili gen mutasyonu açısından vakit kaybetmeden değerlendirilmelidir. Mutasyonların tespitinde daha karmaşık ve maliyetli yöntemlerin kullanılmakla birlikte daha ucuz ve hızlı yöntemlere ihtiyaç olduğu açıktır. Bundan dolayı çalışmada DCLRE1C geni ekzon 3 (c.194C>T; p.T65I) ve ekzon 14 (c.1669_1670insA; p.T577Nfs*21) mutasyonlarının Polimeraz Zincir Reaksiyonu-Restriksiyon Parça Uzunluk Polimorfizmi (PZR-RFLP) yöntemi kullanılarak belirlenmesi amaçlandı. Hastalar ve Yöntem: Çalışma 2017-2020 yılları arasında kliniğimizde DCLRE1C mutasyonu ile takip edilen 14 hasta, 2 ebeveyn ve 10 sağlıklı kontrol dahil...
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Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV... more
Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV disease that renders immunological studies challenging. They have CD4+ αβ T lymphocytopenia with a concomitant expansion of CD4−CD8− double-negative (DN) αβ and Vδ2− γδ T lymphocytes, both displaying a unique CD38+CD45RA+T-bet+EOMES− phenotype. Itk-deficient mice recapitulated an expansion of the γδ T and DN αβ T lymphocyte populations in the thymus and spleen, respectively. Moreover, the patients’ T lymphocytes secrete small amounts of IFN-γ in response to TCR crosslinking, mitogens, or forced synapse formation with autologous B lymphocytes. Finally, the patients’ total lymphocytes secrete small amounts of IFN-γ, and CD4+, CD8+, DN αβ T, Vδ2+ γδ T, and MAIT cells display impaired IFN-γ production in response to BCG. Inherited ITK deficiency undermines...
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Amaç: Çalışmamızın amacı, COVID-19 pandemisinin primer immün yetmezliği olan çocukların ruh sağlığı üzerindeki etkilerini araştırmaktır. Gereç ve Yöntemler: Katılımcıların ebeveynleri tarafından Revize Çocuk Anksiyete ve Depresyon Ölçeği... more
Amaç: Çalışmamızın amacı, COVID-19 pandemisinin primer immün yetmezliği olan çocukların ruh sağlığı üzerindeki etkilerini araştırmaktır. Gereç ve Yöntemler: Katılımcıların ebeveynleri tarafından Revize Çocuk Anksiyete ve Depresyon Ölçeği - Ebeveyn Formu (RCADS-P) doldurulmuştur. Katılımcılar Primer immün yetmezliği olan hastalar ve kontrol grubu olmak üzere iki gruba ayrılarak değerlendirilmiştir. Bu çalışma Haziran 2020-Aralık 2020 tarihleri arasında yapılmıştır. Bulgular: Çalışma grubundaki hastaların RCADS-P depresyon puanları ve RCADS-P toplam puanları kontrol grubuna göre istatistiksel olarak anlamlı derecede yüksekti (sırasıyla p = 0,022, p = 0,042). Hastaların yaşı (r = 0,419, p = 0,024), eğitim düzeyi (r = 0,588, p = 0,013) ve RCADS-P depresyon puanları arasında pozitif yönde ilişkiler bulundu. Ayrıca kardeş sayısı (r = -0,396, p = 0,038) ile RCADS-P OKB puanları arasında negatif korelasyon saptanmıştır. Sonuç: COVID-19 pandemisi, primer immün yetmezliği olan hastaların ruh ...
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Life-threatening ‘breakthrough’ cases of critical COVID-19 are attributed to poor or waning antibody response to the SARS-CoV-2 vaccine in individuals already at risk. Pre-existing autoantibodies (auto-Abs) neutralizing type I IFNs... more
Life-threatening ‘breakthrough’ cases of critical COVID-19 are attributed to poor or waning antibody response to the SARS-CoV-2 vaccine in individuals already at risk. Pre-existing autoantibodies (auto-Abs) neutralizing type I IFNs underlie at least 15% of critical COVID-19 pneumonia cases in unvaccinated individuals; however, their contribution to hypoxemic breakthrough cases in vaccinated people remains unknown. Here, we studied a cohort of 48 individuals (age 20-86 years) who received 2 doses of an mRNA vaccine and developed a breakthrough infection with hypoxemic COVID-19 pneumonia 2 weeks to 4 months later. Antibody levels to the vaccine, neutralization of the virus, and auto-Abs to type I IFNs were measured in the plasma. Forty-two individuals had no known deficiency of B cell immunity and a normal antibody response to the vaccine. Among them, ten (24%) had auto-Abs neutralizing type I IFNs (aged 43-86 years). Eight of these ten patients had auto-Abs neutralizing both IFN-α2 a...
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B lenfosit yüzeyinde bulunan CD19 molekülü olgun B hücrelerinde CD21, CD81, CD225 ile birlikte CD19 kompleksini oluşturur ve antijen uyarısı ile birlikte B lenfosit aktivasyonunu düzenler. CD19 molekülünü kodlayan gende oluşacak... more
B lenfosit yüzeyinde bulunan CD19 molekülü olgun B hücrelerinde CD21, CD81, CD225 ile birlikte CD19 kompleksini oluşturur ve antijen uyarısı ile birlikte B lenfosit aktivasyonunu düzenler. CD19 molekülünü kodlayan gende oluşacak mutasyonlar, CD19 protein ekspresyonunu etkilemekte ve primer immün yetmezlik (PIY) tablosu ortaya çıkmaktadır. Bu çalışmada CD19 eksikliği tanısıyla izlediğimiz hastamızın 3 aylık bebeğinin, RFLP yöntemiyle aynı gen mutasyonu yönünden değerlendirilmesi amaçlanmıştır. Çalışmaya bilinen CD19 mutasyonlu hasta, bu hastanın yeni doğan bebeği ile hastanın annesi ve iki sağlıklı kontrol dahil edilmiştir. Mutasyon analizi için ilk olarak CD19 genindeki mutasyon bölgesini kapsayan primerler dizayn edilip PZR-RFLP işlemi gerçekleştirilmiştir. Oluşan DNA fragmentleri agaroz jel elektoroforezinde görüntülenip genotiplemesi yapılmıştır. Hastamızın CD19 geninin ekzon 6’da saptanan çerçeve kayması mutasyonu (c.973_973insA) yönünden bebeğinin ve annesinin taşıyıcı olduğu P...
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The characteristic features of the immune responses of COVID‐19 patients and how they reflect lung involvement have not been clearly elucidated.
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We report the case of a 2-week-old boy who presented with a vesiculopustular, bullous eruption in the setting of autoimmune enteropathy, hypothyroidism, membranous nephropathy, Coombs-positive hemolytic anemia, and persistent... more
We report the case of a 2-week-old boy who presented with a vesiculopustular, bullous eruption in the setting of autoimmune enteropathy, hypothyroidism, membranous nephropathy, Coombs-positive hemolytic anemia, and persistent eosinophilia. Immunologic testing revealed a deficiency of FOXP3-expressing regulatory T cells, and a diagnosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome was made. Histologic analysis, immunofluorescence, and enzyme-linked immunosorbent assay confirmed the bullous eruption as epidermolysis bullosa acquisita with associated collagen VII autoantibody production. The skin lesions responded to systemic immunosuppressant therapy and have regressed after allogeneic bone marrow transplantation.
Research Interests: Medicine, Diarrhea, Humans, Enteropathy, Epidermolysis Bullosa, and 12 moreMale, Differential Diagnosis, Newborn Infant, Fluorescent Antibody Technique, Bone Marrow Transplantation, Pediatric dermatology, Type 2 Diabetes Mellitus, Enzyme Linked Immunosorbent Assay, Immunosuppressive Agents, Autoimmune hemolytic anemia, Paediatrics and reproductive medicine, and Immune Dysregulation
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IntroductionBronchiolitis obliterans is characterized by partial or total occlusion of the bronchioles due to inflammation and fibrosis, and the most common form is postinfectious bronchiolitis obliterans (PIBO). This study aimed to... more
IntroductionBronchiolitis obliterans is characterized by partial or total occlusion of the bronchioles due to inflammation and fibrosis, and the most common form is postinfectious bronchiolitis obliterans (PIBO). This study aimed to retrospectively present our intravenous immunoglobulin (IVIG) treatment experience in PIBO patients with a clinically severe course despite receiving commonly used treatment protocols.Materials and MethodsThe study included patients aged 0–18 with subtle immunological abnormalities who were followed up in our center for PIBO between 2010 and 2021. Clinical evaluation, body mass index (BMI), computerized tomography (CT) image scoring, and immunological parameters were recorded before and after IVIG treatment.ResultsOf the 11 patients included in the study, 90% were male, the mean age at diagnosis was 27.1 months (range: 5–68 months) and the mean current age was 81.4 months (range: 15–188 months). The number of hospital visits due to infection and the frequency of hospitalizations decreased markedly in the patients who underwent IVIG therapy. Oxygen therapy was discontinued in all patients, and improvements in radiological severity scores were observed. BMI z‐scores improved over the baseline values after IVIG therapy.ConclusionCorticosteroids are considered the best first‐line treatment to control inflammation in PIBO. In our study group, PIBO patients showed favorable clinical and radiological responses to regular IVIG treatment, possibly due to minor immune deficiency secondary to steroids or as a result of undetected adaptive and innate immune defects involved in the etiology of severe PIBO.
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Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1 , OAS2 , or RNASEL in five unrelated children with MIS-C. The cytosolic... more
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1 , OAS2 , or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)–sensing OAS1 and OAS2 generate 2′-5′-linked oligoadenylates (2-5A) that activate the single-stranded RNA–degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L–deficient cells. Cytokine production in RNase L–deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS–RNase L deficiencies in these patients unleash the production of SARS-CoV-2–triggered,...
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Objective Mycobacterium tuberculosis is an immobile aerobic bacillus that causes tuberculosis (TB) disease. We aimed to evaluate the association between coronavirus disease 2019 (COVID-19), COVID-19-related drugs, TB reactivation, and TB... more
Objective Mycobacterium tuberculosis is an immobile aerobic bacillus that causes tuberculosis (TB) disease. We aimed to evaluate the association between coronavirus disease 2019 (COVID-19), COVID-19-related drugs, TB reactivation, and TB incidence during the pandemic. Methods Eight patients who were diagnosed as having TB in Meram Medical Faculty, Necmettin Erbakan University between March 1, 2020, and December 31, 2021, at the beginning of the pandemic, were enrolled in this study. The presence of COVID-19 infection was confirmed using COVID-19 antibody tests and the patients' COVID-19 history. We evaluated the demographic data, laboratory findings, imaging tests, and pathology results of all patients. Results We checked all our patients with TB using COVID-19 antibodies (immunoglobulin [Ig]G + IgM) or polymerase chain reaction. Seven of the eight patients were female (87.5%). The median age was 16 years. Family screening of all patients was negative, and they had bacillus Calm...
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BackgroundWe previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in another 15-20% of... more
BackgroundWe previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in another 15-20% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3,269 unvaccinated patients with life-threatening COVID-19 (1,301 previously reported and 1,968 new patients), and 1,373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. A quarter of the patients tested had antibodies against type I IFN (234 of 928) and were excluded from the analysis.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants wasTLR7, with an OR of 27.68 (95%CI:1.5-528.7,P=1.1×10−4), in analyses restricted to biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-de...
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Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-α/β (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases).... more
Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-α/β (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). Cells homozygous for the common P1104A TYK2 allele have selectively impaired responses to IL-23 (underlying isolated mycobacterial disease). We report three new forms of TYK2 deficiency in six patients from five families homozygous for rare TYK2 alleles (R864C, G996R, G634E, or G1010D) or compound heterozygous for P1104A and a rare allele (A928V). All these missense alleles encode detectable proteins. The R864C and G1010D alleles are hypomorphic and loss-of-function (LOF), respectively, across signaling pathways. By contrast, hypomorphic G996R, G634E, and A928V mutations selectively impair responses to IL-23, like P1104A. Impairment of the IL-23–dependent induction of IFN-γ is the only mechanism of mycobacterial disease common to patients with compl...
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Introduction and aim. Mutation(s) in the gene encoding the CD19 molecule affect CD19 protein expression and primary immunodeficiency (PID) occurs. The PCR-RFLP method, which is faster and cheaper than other mutation detection methods, is... more
Introduction and aim. Mutation(s) in the gene encoding the CD19 molecule affect CD19 protein expression and primary immunodeficiency (PID) occurs. The PCR-RFLP method, which is faster and cheaper than other mutation detection methods, is rarely used in the diagnosis of PID. The study aimed to genetically identify CD19 deficiency, which is a PID, using the PCR-RFLP method. Material and methods. A total of 8 patients and two healthy controls were included in the study and the relevant region genotypes in the CD19 gene were determined by performing PCR-RFLP analysis. Results. The index case, newborn baby and mother were also included in the study. It was determined that the index case (P6) was homozygous mutant, the newborn baby (P7) and mother (P8) had heterozygous genotype. Based on this situation, one child (P1) was found to be homozygous mutant, mother (P2), father (P3) and other children (P4 and P5) had heterozygous genotype in the family, which was determined to be related to the...
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BackgroundLipopolysaccharide‐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,... more
BackgroundLipopolysaccharide‐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 the clinical and laboratory manifestations of both diseases and investigate the role of flow cytometry in predicting the genetic defect in patients with LRBA deficiency and CTLA‐4 insufficiency.MethodsPatients were evaluated clinically with laboratory assessments for lymphocyte subsets, T follicular helper cells (TFH), LRBA expression, and expression of CD25, FOXP3, and CTLA4 in regulatory T cells (Tregs) at baseline and 16 h post‐stimulation.ResultsLRBA‐deficient patients (n = 29) showed significantly early age of symptom onset, higher rates of pneumonia, autoimmunity, chronic diarrhea, an...