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Öğe Atopy and allergic diseases in immunoglobulin A deficiency(Bilimsel Tip Yayinevi, 2012) Artac, Hasibe; Keles, Sevgi; Karagol, Cuneyt; Gokturk, Bahar; Reisli, IsmailObjective: Immunoglobulin (Ig) A deficiency is a common immune system disorder which causes morbidity especially in preschool children. The aim of this study is to evaluate atopy and allergic diseases of cases with IgA deficiency, determinate clinical results before and after four years of age. Materials and Methods: The data records of 295 children with IgA deficiency (272 partial, 23 selective IgA deficiency) between November 2001 and 2007 were examined retrospectively. Results: The mean age at the diagnosis was 64.3 +/- 43 (4-204) months, the mean age at the beginning of infection was 29.5 +/- 36 (1-168) months. There were 121 patients under the age of four years at the diagnosis time. The clinical presentations were recurrent bronchitis (40%), tonsillitis/pharyngitis (33%), sinusitis (6%), pneumonia (4%), acute otitis media (2%), acute gastroenteritis (0.3%) and neck abscess (0.3%), respectively. Eosinophilia was present in 25% of patients, increased IgE levels was present in 38% of patients, and they were correlated with each other. Atopy was detected in 31% of patients by spesific IgE and/or skinprick test positivity. Allergic disease prevalance was found as % 78 (60% asthma, 15% allergic rhinitis, 8% atopic dermatitis, 6% urticaria, 0.7% allergic conjunctivitis). During the clinical follow-up IgA levels reached to normal levels at 17 +/- 14 months ranged between 3 and 60 months. Three patients with selective IgA deficiency had bronchiectasia. Conclusion: We found that allergic diseases were increased in these patients. Serum IgA level should be tested not only for recurrent infections but also for patients with allergic symptoms.Öğe BRUTON DISEASE DIAGNOSED WITH CERVICAL ABSCESS IN EARLY INFANCY(Springer/Plenum Publishers, 2014) Guner, Sukru Nail; Sayar, Esra Hazar; Ng, Yuk Yin; Reisli, Ismail[Abstract Not Availabe]Öğe Clinical features and risk factors in children with acute asthma attack(Bilimsel Tip Yayinevi, 2012) Karagol, Cuneyt; Ertoy Karagol, Hacer Ilbilge; Keles, Sevgi; Artafc, Hasibe; Reisli, IsmailObjective: Asthma is one of the most common chronic diseases in childhood and has a high prevalence, morbidity and mortality. Acute asthma attacks are the most significant factor in the determination of the mortality and morbidity of asthma. The aim of this study was to evaluate the risk factors, clinical characteristics and the response of treatment of asthma attacks in children. Patients and Methods: Between January 2008 and January 2009, the clinical characteristics and laboratory findings of 40 children with asthma attack were evaluated. Results: Of 40 children consisting of the study group, 23 were boys and 17 were girls. Mean age was found to be 7.8 +/- 1.9 years. While the most significant risk factors causing attacks were determined as infections and exposure to cigarette smoking, coughing was found as the most frequent symptom during attacks. The severity of the asthma attacks as follows: mild attacks in 20 (50%), moderate attacks in 18 (45%) and severe attacks in 2 (5%) of the patients, respectively. According to the severity of the attacks and response to the treatment, systemic steroid therapy was required in the treatment of 16 (40%) patients while 24 patients improved only with oxigen and short-acting bronchodilator. After the treatment in the emergency unit, 34 (85%) patients were discharged to home and 4 (10%) were hospitalized in the department of pediatrics and 2 (5%) into the intensive care unit. Conclusion: The determination of the risk factors of acute exacerbation is very important to reduce the frequency and the severity of the asthma attacks. We think that the education of the family is necessary to prevent the children with asthma from exposure to smoking and infections.Öğe Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities(Wiley-Blackwell, 2013) Jspeert, Hanna I.; Warris, Adilia; van der Flier, Michiel; Reisli, Ismail; Keles, Sevgi; Chishimba, Sandra; van Dongen, Jacques J. M.DNA double-strand break repair via non-homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T-cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, extreme radiosensitivity, severe dysmaturity, corpus callosum agenesis, polysyndactily, dysmorphic appearance, and erythema, which are suggestive of a new type of NHEJ deficiency. We identified two heterozygous mutations in LIG4. The p.S205LfsX29 mutation results in lack of the nuclear localization signal and appears to be a null mutation. The second mutation p.K635RfsX10 lacks the C-terminal region responsible for XRCC4 binding and LIG4 stability and activity, and therefore this mutant might be a null mutation as well or have very low residual activity. This is remarkable since Lig4 knockout mice are embryonic lethal and so far in humans no complete LIG4 deficiencies have been described. This case broadens the clinical spectrum of LIG4 deficiencies. Published 2013 Wiley Periodicals, Inc.Öğe Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1(Mosby-Elsevier, 2020) Cui, Ye; Keles, Sevgi; Charbonnier, Louis-Marie; Jule, Amelie M.; Henderson, Lauren; Celik, Seyma Celikbilek; Reisli, IsmailBackground: Mutations affecting DNA polymerases have been implicated in genomic instability and cancer development, but the mechanisms by which they can affect the immune system remain largely unexplored. Objective: We sought to establish the role of DNA polymerase M catalytic subunit (POLD1) as the cause of a primary immunodeficiency in an extended kindred. Methods: We performed whole-exome and targeted gene sequencing, lymphocyte characterization, molecular and functional analyses of the DNA polymerase delta (Pol delta) complex, and T- and B-cell antigen receptor repertoire analysis. Results: We identified a missense mutation (c. 3178C>T; p.R1060C) in POLD1 in 3 related subjects who presented with recurrent, especially herpetic, infections and T-cell lymphopenia with impaired T-cell but not B-cell proliferation. The mutation destabilizes the Pol delta complex, leading to ineffective recruitment of replication factor C to initiate DNA replication. Molecular dynamics simulation revealed that the R1060C mutation disrupts the intramolecular interaction between the POLD1 CysB motif and the catalytic domain and also between POLD1 and the Pol delta subunit POLD2. The patients exhibited decreased numbers of naive CD4 and especially CD8 T cells in favor of effector memory subpopulations. This skewing was associated with oligoclonality and restricted T-cell receptor beta-chain V-J pairing in CD8(+) but not CD4(+) T cells, suggesting that POLDR1060C differentially affects peripheral CD8(+) T-cell expansion and possibly thymic selection. Conclusion: These results identify gene defects in POLD1 as a novel cause of T-cell immunodeficiency.Öğe Common Variable Immunodeficiency and Pulmonary Amyloidosis: A Case Report(Springer/Plenum Publishers, 2015) Arslan, Sevket; Ucar, Ramazan; Yavsan, Dudu Mehmet; Esen, Hasan; Maden, Emin; Reisli, Ismail; Caliskaner, Ahmet ZaferCommon variable immunodeficiency is the most common symptomatic primary immune deficiency characterized by hypogammaglobulinemia, recurrent infections, and increased risk of autoimmune disease and malignancy. Secondary amyloidosis develops from chronic inflammatory conditions. The co-existence of CVID (especially in patients with bronchiectasis) and secondary amyloidosis has been reported rarely. We describe the first case of pulmonary hypertension secondary to pulmonary amyloidosis in a patient with CVID.Öğe DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency(Oxford Univ Press, 2015) Volk, Timo; Pannicke, Ulrich; Reisli, Ismail; Bulashevska, Alla; Ritter, Julia; Bjorkman, Andrea; Schaeffer, Alejandro A.Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease-all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three children clinically diagnosed with antibody deficiency. We identified perfectly segregating homozygous variants in DCLRE1C in three index patients with recurrent respiratory tract infections, very low B-cell numbers and serum IgA levels. In patients, decreased colony survival after irradiation, impaired proliferative response and reduced counts of naive T cells were observed in addition to a restricted T-cell receptor repertoire, increased palindromic nucleotides in the complementarity determining regions 3 and long stretches of microhomology at switch junctions. Defective V(D)J recombination was complemented by wild-type ARTEMIS protein in vitro. Subsequently, homozygous or compound heterozygous DCLRE1C mutations were identified in nine patients from the same geographic region. We demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. This novel association broadens the clinical spectrum associated with ARTEMIS mutations. Clinicians should consider the possibility that an immunodeficiency with a clinically mild initial presentation could be a combined immunodeficiency, so as to provide appropriate care for affected patients.Öğe Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation(Mosby-Elsevier, 2016) Keles, Sevgi; Charbonnier, Louis Marie; Kabaleeswaran, Venkataraman; Reisli, Ismail; Genel, Ferah; Gulez, Nesrin; Al-Herz, WaleedBackground: The autosomal recessive hyper-IgE syndrome (HIES) caused by dedicator of cytokinesis 8 (DOCK8) deficiency shares clinical features with autosomal dominant HIES because of signal transducer and activator of transcription 3 (STAT3) mutations, including recurrent infections and mucocutaneous candidiasis, which are suggestive of T(H)17 cell dysfunction. The mechanisms underlying this phenotypic overlap are unclear. Objective: We sought to elucidate common mechanisms operating in the different forms of HIES. Methods: We analyzed the differentiation of CD4(+) T-H cell subsets in control and DOCK8-deficient subjects. We also examined the role of DOCK8 in regulating STAT3 activation in T cells. T-H cell differentiation was analyzed by ELISA, flow cytometry, and real-time PCR measurements of cytokines and T-H cell transcription factors. The interaction of DOCK8 and STAT3 signaling pathways was examined by using flow cytometry, immunofluorescence, coimmunoprecipitation, and gene expression analysis. Results: There was a profound block in the differentiation of DOCK8-deficient naive CD4(+) T cells into T(H)17 cells. A missense mutation that disrupts DOCK8 guanine nucleotide exchange factor (GEF) activity while sparing protein expression also impaired T(H)17 cell differentiation. DOCK8 constitutively associated with STAT3 independent of GEF activity, whereas it regulated STAT3 phosphorylation in a GEF activity-dependent manner. DOCK8 also promoted STAT3 translocation to the nucleus and induction of STAT3-dependent gene expression. Conclusion: DOCK8 interacts with STAT3 and regulates its activation and the outcome of STAT3-dependent TH17 differentiation. These findings might explain the phenotypic overlap between DOCK8 deficiency and autosomal dominant HIES.Öğe EDUCATION AND PID AWARENESS AMONG MEDICAL STUDENTS(Springer/Plenum Publishers, 2014) Reisli, Nesrin; Guner, Sukru; Sayar, Esra Hazar; Reisli, Ismail[Abstract Not Availabe]Öğe Efficacy of intravenous immunoglobulin treatment in immunocompromised children with H1N1 influenza: a clinical observation(Wiley-Blackwell, 2016) Gokturk, Bahar; Pekcan, Sevgi; Guner, Sukru Nail; Artac, Hasibe; Keles, Sevgi; Kirac, Mine; Reisli, IsmailBackground and AimsThe appropriate treatment of pandemic H1N1 influenza which was first identified in April 2009 in Mexico is insufficient especially for immunocompromised patients. We aimed to evaluate the features and prognostic factors of the children with H1N1, especially immunocompromised ones, and whether intravenous immunoglobulin G (IVIG) replacement could aid for a better outcome. MethodsTwenty-one hospitalized children with laboratory-confirmed H1N1 were evaluated retrospectively. Data were extracted from files and electronic medical records. ResultsThe median age was 37 (1-216) months; 62% of them were under 5years of age and 71.4% had one or more underlying disorders. Main symptoms were high fever, cough, fatigue and vomiting. Lower respiratory tract manifestations were seen in 66.6% of children. Mortality rate was 4.7%. The patient who died had the lowest lymphocyte (100/mm(3)), thrombocyte (21000/mm(3)) and highest blood urea nitrogen (87mg/dL) levels. Fifty-eight percent of evaluated patients had one of the primary immunodeficiency disorders. Surprisingly, none of the six patients with primary immunodeficiency who are on regular IVIG replacement needed intensive care unit and died. Although median durations of cough, fever and hospitalization were lower, they did not change statistically according to get IVIG replacement regularly (P=0.47, 0.97, 0.09, respectively). ConclusionOur study is important while it is the first one that shows the course of primary immunodeficient children with H1N1 infection who were on regular IVIG replacement. A trial of high-dose IVIG may be a useful adjunctive therapy in severe H1N1 influenza, particularly in the immunocompromised patients.Öğe Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency(Hindawi Ltd, 2018) Alkan, Gulsum; Keles, Sevgi; Reisli, IsmailBackground. Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) that typically presents with hypogammaglobulinemia and impaired antibody production. Objectives. This study aimed to promote the awareness of CVID, whose clinical spectrum is quite broad. Methods. The demographic, clinical, and laboratory characteristics of 12 children (seven males and five females) with CVID were analyzed retrospectively. The patients were diagnosed using the diagnostic criteria of the European Society for Primary Immunodeficiencies. Results. The median disease onset age was 7.2 +/- 4.1 years, and the mean diagnosis age was 11.6 +/- 3.7 years. The diagnosis delay was 4.3 +/- 2.6 years, and the parental consanguinity rate was 75%. Most patients presented with recurrent infections, including upper respiratory tract infections (n = 8), lower respiratory tract infections (n = 9), and gastroenteritis (n = 5). In addition, growth retardation (n = 9) and bronchiectasis (n = 5) were common comorbidities. Two patients presented with autoimmune thrombocytopenia and anemia, and one patient exhibited lung empyema. All the patients had immunoglobulin G deficiencies. Conclusion. CVID is a heterogeneous disease, so the diagnosis is frequently delayed. In the CVID patients with pulmonary complications, relationships were seen with the diagnosis delay, symptom onset age, and lung infection prevalence. Overall, the early diagnosis and treatment of PIDs can preclude life-threatening complications.Öğe Evaluation of the 10 Warning Signs in Primary and Secondary Immunodeficient Patients(Frontiers Media Sa, 2022) Eldeniz, Fadime Ceyda; Gul, Yahya; Yorulmaz, Alaaddin; Guner, Sukru Nail; Keles, Sevgi; Reisli, IsmailObjectivesTen 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) groups were significantly higher than the scores of the control group (0.34 +/- 0.61) (p < 0.05). A sign for immunological evaluation in two patients without warning signs in the PID group was found to be chronic diarrhea. In addition to the 10 JMF warning signs, we found that consanguinity and a family history of tuberculosis were statistically significant in our PID group, compared with the SID and control groups. ConclusionsThe JMF warning signs are important for early diagnosis of PID. Our study showed that these signs may also be used for the early diagnosis of SID in patients and, according to our results, in addition to the 10 JMF signs for PID, parental consanguinity, chronic diarrhea, and a family history of tuberculosis may also be considered warning signs for the early diagnosis of PID.Öğe Evaluation of transcription factors and cytokine expressions of T-cell subsets in CD19 deficiency and their possible relationship with autoimmune disease(Wiley, 2024) Kueccuektuerk, Serkan; Karaselek, Mehmet Ali; Duran, Tugce; Reisli, IsmailCD19 deficiency is a rare, predominantly antibody deficiency, and there are few studies showing that it can be seen in autoimmune diseases. The aim of study was evaluated to transcription factor and cytokine expressions of helper T (Th)-cell subsets in CD19 deficiency and the possible mechanism role of this factor expression in autoimmune disease. Transcription factor and cytokine expressions of Th1, Th2, Th17, and regulatory T (Treg) cells were investigated by real-time polymerase chain reaction (qPCR) method. In the study, in the patient/control comparison, transcription factor and cytokine expressions of Th1 (T-bet, STAT1, and STAT4) were found to be significantly downregulated, but IFN-gamma was significantly upregulated in patients. Th2 factor GATA3, STAT6, IL-4, and IL-5 were significantly downregulated. For Th17, ROR gamma t was downregulated while IL-22 was upregulated. In the heterozygous/control comparison, there was no significant change in gene expressions other than IL-5. T-bet, STAT1, GATA3, IL-4, ROR gamma t, FoxP3, and TGF-beta were significantly downregulated in the patient/heterozygous comparison. It was revealed for the first time that the expression of the transcription factors and cytokines in CD19 deficiency. These findings might be showing the predominance of Th1 factors and suppressed Treg factors which could be related with autoimmunity in CD19 deficiency.Öğe Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement?(Lippincott Williams & Wilkins, 2019) Uygun, Dilara F. Kocacik; Uygun, Vedat; Daloglu, Hayriye; Ozturkmen, Seda; Karasu, Gulsun; Reisli, Ismail; Sayar, ErsinMutations in interleukin-10 and its receptors cause infantile inflammatory bowel disease (IBD), a hyperinflammatory disorder characterized by severe, treatment-refractory colitis, multiple abscesses, and enterocutaneous fistulas. Patients with infantile IBD often require several surgical interventions, including complete colectomy, and hematopoietic stem cell transplantation is currently the only known medical therapy. Traditionally, operative management has been preferred before stem cell transplantation because of the latter's increased susceptibility to procedural complications; however, surgical intervention could be delayed, and possibly reconsidered, because our 2 patients with infantile IBD demonstrated a rapid response to treatment via engraftment.Öğe Hematopoietic stem cell transplantation from unrelated donors in children with DOCK8 deficiency(Wiley, 2017) Uygun, Dilara Fatma K.; Uygun, Vedat; Reisli, Ismail; Keles, Sevgi; Ozen, Ahmet; Yilmaz, Mustafa; Sayar, Esra H.DIDS is a unique form of combined immune deficiency characterized by an unusual susceptibility to cutaneous viral infections, severe allergies with eosinophilia and elevated immunoglobulin E titers, autoimmunity, and cancer. HSCT is considered the standard of care for this deadly disease. We have retrospectively analyzed the outcome of allogeneic HSCT from unrelated donors in patients with DIDS. Data from four patients, with five transplants, are presented. All patients received transplants from unrelated donors' BM, except for one patient who received a cord blood transplant. The conditioning regimens were based on myeloablative protocols for BM derived transplants; a NM regimen was pursued for the patient who received a cord blood transplant, which resulted in graft rejection. Although recurrent pneumonia and skin infections resolved immediately after transplantation, all patients subsequently developed human herpesvirus infection, including cutaneous herpetic lesions, cytomegalovirus reactivation, and zona zoster, which could be attributed to the use of ATG. Despite the presence of serious morbidities prior to transplantation, all patients recovered successfully. DIDS can be successfully treated with allogeneic HSCT from unrelated donors following a myeloablative conditioning regimen, with a reasonable safety profile.Öğe How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease?(Elsevier Science Inc, 2016) Arslan, Sevket; Ucar, Ramazan; Caliskaner, Ahmet Zafer; Reisli, Ismail; Guner, Sukru Nail; Sayar, Esra Hazar; Baloglu, IsmailBackground: The European Society of Immunodeficiency (ESID) developed 6 warning signs to promote the awareness of adult primary immunodeficiency disease (PID). Objective: To screen adult patients for the presence of PID using these 6 warning signs to determine the effectiveness of this protocol. Methods: Questions related to the ESID warning signs for adult PID were added to the standard outpatient clinic file system and asked of 3,510 patients who were admitted to our clinic for any reason. Patients with signs and/or suspicion of PID based on their medical history underwent immunologic investigation. Results: In total, 24 patients were diagnosed as having a PID. The most common reason that patients with PID were admitted was frequent infection (n = 18 [75%]), and the most common PID subgroup was common variable immunodeficiency (n = 12 [50%]). Twenty patients with PID had at least one positive finding according to the ESID warning signs. Two patients with gastrointestinal concerns and 2 with dermatologic symptoms were also diagnosed as having a PID, although they did not have any of the ESID warning signs. Conclusion: The ESID warning signs do not specify the need for symptoms to diagnose a PIDs and do not include a comprehensive list of all signs and symptoms of PIDs. As a result, more than infection-centric questions are needed to identify adult patients with immunodeficiencies. (C) 2016 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.Öğe Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation(Mosby-Elsevier, 2014) van Zelm, Menno C.; Bartol, Sophinus J. W.; Driessen, Gertjan J.; Mascart, Francoise; Reisli, Ismail; Franco, Jose L.; Wolska-Kusnierz, BeataBackground: Individuals with genetic defects in CD40 ligand (CD40L) or B-cell antigen receptor coreceptor molecules CD19 and CD81 suffer from an antibody deficiency. Still, these patients carry low levels of memory B cells and serum antibodies. Objective: We sought to assess why the remaining memory B cells and antibodies in the blood of these patients do not provide functional immunity. Methods: We included CD19-deficient patients (n = 8), CD40L-deficient patients (n = 8), and healthy controls (n = 50) to perform detailed flow cytometry on blood B cells, molecular analysis of IgA and IgG transcripts, as well as functional analysis of B-cell activation. Results: CD19-deficient and CD40L-deficient patients carried reduced numbers of all memory B-cell subsets except CD27(-) IgA(+) B cells. Their immunoglobulin heavy chain class-switched transcripts contained less somatic mutations and reduced usage of IgM-distal IgG2 and IgA2 subclasses. The selection strength of mutations for antigen binding was significantly lower than in controls, whereas selection to maintain superantigen binding was normal. Furthermore, the patients showed impaired selection against inherently autoreactive properties of their immunoglobulins. Somatic hypermutation analysis revealed decreased activation-induced cytidine deaminase and uracil-DNA glycosylase 2 activity in CD40L deficiency and increased uracil-DNA glycosylase 2 but decreased mismatch repair in CD19 deficiency. B-cell activation studies revealed that this was at least in part due to transcriptional regulation of DNA repair genes. Conclusions: This study on CD19 and CD40L deficiencies illustrates that both the B-cell antigen receptor and CD40 signaling pathways are required for the selection of immunoglobulin reactivity. Still, they differentially mediate DNA repair pathways during somatic hypermutation, thereby together shaping the human in vivo antigen-experienced B-cell repertoire.Öğe IMMUNODEFICIENCY DUE TO CD19 MOLECULE(Springer/Plenum Publishers, 2014) Reisli, Ismail[Abstract Not Availabe]Öğe Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene(Turkish J Pediatrics, 2016) Goktrurk, Bahar; Reisli, Ismail; Caliskan, Umran; Oleaga-Quintas, Carmen; Deswarte, Caroline; Turul-Ozgur, Tuba; Burgucu, DurmusClinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-gamma and IL-17 production are defective due to insufficient response to IL-2 and IL-23 in IL-12R beta 1 deficiency; so this also causes tendency to intracellular microorganisms and candidal diseases. Here, we present a patient who suffers IL-12R beta 1 deficiency caused by a novel bi-allelic mutation with recurrent salmonellosis, mycobacterial, fungal infections and remained asymptomatic during 13 months of follow-up after hIFN-gamma treatment. In addition she had hemolytic anemia and midline defects like cleft lip and palate which have not been reported in a patient with MSMD in the literature prior to this case report. In conclusion, diagnosis of MSMD should be kept in mind in patients with recurrent salmonellosis, mycobacterial and fungal infections especially in countries with a high consanguinity rate.Öğe THE INFILTRATION OF T AND B LYMPHOCYTES AND NK CELLS IN KIDNEY BIOPSIES OF PATIENTS WITH FABRY DISESE UNDER ENZYME REPLACEMENT THERAPHY(Oxford Univ Press, 2020) Turkmen, Kultigin; Esen, Hasan; Karaselek, Mehmet Ali; Celik, Seyma Celikbilek; Baloglu, Ismail; Guner, Sukru; Reisli, Ismail[Abstract Not Availabe]
