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Cystic fibrosis is one of the most common inherited diseases. It presents with recurrent respiratory infections, pancreatic insufficiency, and growth retardation. Neurological involvement becomes more common as life expectancy increases. Chronic hypoxia, impaired glucose intolerance, autoimmune mechanisms, vasculitis changes, and micronutrient deficiencies seem to cause neuropathy in cystic fibrosis. This study was aimed to investigate peripheral neuropathy in pediatric cystic fibrosis patients. Twenty-one cystic fibrosis patients and 19 healthy control subjects between the ages of 7 and 17 years were included. Their nerve conduction study results and laboratory investigations were analyzed. Participants were classified into four groups; 1. Cystic fibrosis with vitamin D deficiency, 2. Cystic fibrosis with normal vitamin D levels, 3. Healthy subjects with vitamin D deficiency, 4. Healthy subjects with normal vitamin D levels. We found statistically significantly lower sensory median nerve sensorial nerve action potential, sensorial sural nerve conduction velocity, and motor peroneal nerve compound motor action potential in cystic fibrosis patients with vitamin D deficiency than in other cases. We also found that the main difference between cystic fibrosis and control groups was especially in patients with low vitamin D levels. Nerve damage starts at an early age, especially in cystic fibrosis patients especially those with vitamin D deficiency. Electrophysiological evaluation to assess neuropathy is important even in asymptomatic patients. Prevention of hypovitaminosis D is important to prevent neuropathy in cystic fibrosis patients.

Objective: To evaluate the risk factors of subclinical neuropathy, and the nerve conduction study (NCS) results in children, and adolescents with type 1 diabetes mellitus (T1DM). Methods: A total of 81 patients without neuropathy symptoms were studied. Demographical features, pubertal stage, disease duration, NCS results, lipid profile results in the last 2 years, HbA1c results in the last 5 years, and the types of treatments (multiple-dose and insulin pump therapy) were recorded. Results: The median age was 14 (5) years, 49.3 % (n=40) of the study group was female and 81.5 % (n=66) of the patients were pubertal. Of the patients, 16.04% had abnormal NCS results. There were no significant differences between patients with normal and abnormal NCS results in terms of demographical features, pubertal stage, disease duration, lipid profiles, and dysglycemia. No significant differences were found between the types of treatment in terms of NCS results. The proximal and distal compound muscle action potential (CMAP) amplitudes of the median nerve were significantly lower in patients with poor glycemic control than in those with well-glycemic control. Sensory nerve action potential (SNAP) amplitudes of sural nerve were significantly lower in patients whose disease durations were ≥60 months than in those

Purpose: In this study, it is aimed to determine the role of human resource management practices, from the focus of control and commitment, on the job crafting behaviors of employees. Methodology: In accordance with the purpose of the study, a total of 22 people among the third year students of the Human Resources Management Department of a university in Izmir, were selected and semi-structured interviews were conducted. The answers obtained from the interviews were analyzed and interpreted with the descriptive analysis method. Findings: As a result of the research, it has been determined that while control-oriented human resource management practices make it difficult for the emergence of job crafting, commitment-oriented human resource management practices facilitate the emergence of job crafting. Additionally it has been observed that some control-oriented human resource management practices can positively affect the job crafting of employees. Originality: In the literature, there are not many studies examining the concept within the scope of control and commitment-oriented human resources management practices. This study is important in terms of being the first study in this focus in Turkish literature. Keywords: Job Crafting, Human Resources Management, Control-Oriented Human Resources Practices, Commitment-Oriented Human Resources Management Practices. JEL Codes: J24, M12, O15.

Background Inflammation and endothelial dysfunction are the suggested underlying mechanisms in migraine. Pentraxins, C-reactive protein, erythrocyte sedimentation rate, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio are good indicators of inflammation. Alterations in insulin levels and insulin sensitivity may trigger endothelial dysfunction. This study evaluates the association between migraine and serum biomarkers of inflammation and endothelial dysfunction in children. Methods Children with migraine and healthy subjects were recruited. Serum samples were obtained in an attack-free period. We collected data on serum levels of complete blood cell count, C-reactive protein, erythrocyte sedimentation rate, pentraxin-3, and data from biochemical investigations. We compared these with clinical data such as age, sex, disease duration, attack frequency, attack duration, analgesic use, family history, and Pediatric Migraine Disability Assessment Questionnaire scores. Results We assessed samples from 32 children (11 boys, 21 girls) with migraine and 19 healthy controls (8 boys, 11 girls). We found significantly higher pentraxin-3, insulin, and insulin resistance in patients with migraine (P = 0.001, P = 0.032, and P = 0.008, respectively). A positive directional correlation is found between pentraxin-3 and Pediatric Migraine Disability Assessment Questionnaire scores. The best cut-off values for pentraxin-3 is determined between 12.75 pg/mL to 15 pg/mL in migraineurs. Conclusions In conclusion increased pentraxin-3 levels support the suggestions that inflammation plays a role in pediatric migraine. The vascular endothelial dysfunction is observed by a rise in insulin and insulin resistance levels. Our findings support the idea that ongoing inflammation and vascular endothelial dysfunction between attacks may play a role in migraine pathogenesis in children.

Introduction: The aim of this study is to investigate a possible association between vitamin D deficiency and diabetic peripheral neuropathy in pediatric patients with type 1 diabetes mellitus.& nbsp;Materials-methods: Twenty-nine patients with type 1 diabetes mellitus and 19 healthy controls were included to the study. All individuals were evaluated for diabetic peripheral neuropathy with nerve conduction studies. Complete blood cell count, biochemical investigations, serum vitamin D levels, hemoglobin A1c levels were recorded.& nbsp;Results: No statistically significant differences between the diabetes and control groups in terms of gender, age, body weight, height, body mass index, systolic and diastolic blood pressures, laboratory investigations, serum vitamin D levels and nerve conduction studies was found. Patients with diabetes were grouped as patients with normal serum vitamin D levels and patients with vitamin D deficiency. Sensory nerve action potential of sural nerve and motor peroneal nerve velocity were statistically significantly lower in diabetic patients with vitamin D deficiency compared to diabetic patients with normal vitamin D levels (p 0.009 and 0.005 respectively).& nbsp;Conclusion: Our results suggested that hypovitaminosis D might lead to development of neuropathic changes particularly on the lower limb nerves even in the early stages of the disease. It should be kept in mind that patients with hypovitaminosis D should be elaborately examined and closely followed up for the development of diabetic neuropathic changes, even if glucose control is achieved.(C) 2022 Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology.

OBJECTIVE Recent data from the literature have recognized the importance of cerebellum in bipolar disorder. Brain imaging studies focusing on cerebellar volumetric changes in bipolar disorder demonstrated controversial data. The aim of this study is to investigate whether there is any difference between early-onset bipolar cases and healthy controls regarding cerebellar volumetric measurements. METHODS Patients with bipolar I disorder were compared to healthy controls in terms of total cerebellar volume, volumes of the right and left cerebellar hemispheres, and cerebellar volumetric asymmetry. All the sociodemographic, clinical data, and magnetic resonance image scans were collected retrospectively. Cerebellar volumes were evaluated using the stereological method. Asymmetry indices were calculated subsequently. RESULTS We recruited 10 bipolar I cases and 10 healthy controls. There were no statistically significant differences between the bipolar and the control groups for total cerebellar volumes, volumes of right and left cerebellar hemispheres, and cerebellar asymmetry indices. CONCLUSION Future studies focusing on cerebellar changes in early-onset bipolar disorder should include large case and control series and designed as follow-up studies for being able to determine the chronic effects of the illness on cerebellar volumes.

Objectives Acute seizures and post-stroke epilepsy have been reported more frequently in patients with pediatric stroke than adults. Acute seizures in the first days of a stroke may deteriorate stroke and ischemia-related neurodegeneration and contribute to the development of post-stroke epilepsy. In this study, we aimed to investigate risk factors for the development of post-stroke epilepsy in children with arterial ischemic stroke. Materials and Methods We recruited 86 children with arterial ischemic stroke. We analyzed variables, including age at admission, gender, complaints at presentation, focal or diffuse neurologic signs, neurologic examination findings, laboratory investigations that were conducted at admission with stroke (complete blood cell count, biochemical-infectious-metabolic-immunological investigations, vitamin B12 levels, vitamin D levels), neuroimaging results, etiologies, time of the first seizure, time of remote seizures, and development of neurologic deficit retrospectively. Seizures during the first six hours after stroke onset were defined as ‘very early seizures’. ‘Early seizures’ were referred to seizures during the first 48 h. Patients who experienced two or more seizures that occurred after the acute phase of seizures were classified as ‘epileptic.’ A binary logistic regression analysis was used to estimate risk factors. Results An acute seizure was detected in 59% and post-stroke epilepsy developed in 41% of our cohort. Binary logistic regression analysis demonstrated that ‘very early seizures’ increased epilepsy risk six-fold. Epilepsy was 16 times higher in patients with ‘early seizures’. Low vitamin D levels were defined as a risk factor for post-stroke epilepsy. Conclusion Seizures in the very early period (within the first six hours) are the most significant risk factors for the development of post-stroke epilepsy Further studies regarding seizure prevention and neuroprotective therapies are needed because post-stroke epilepsy will affect long term prognosis in patients with pediatric stroke.

Objective: this study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. Methods: whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents. Results: we have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM-001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and behavioral functions were normal. Both parents and 5 of the siblings (3 boys and 2 girls) were heterozygous for the variant. They did not show any clinical or laboratory signs of small vessel disease. Conclusions: COL4A1 has previously been associated with dominant small vessel disease of the brain and other organs, manifesting with high penetrance in heterozygous mutation carriers. Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. Genotype-phenotype correlations remain to be established., Scientific and Technological Research Council of Turkey (TÜBİTAK); Medical Research Council; European Research Council (ERC); European Union (European Union); Newton Fund; Wellcome Centre for Mitochondrial Research; Wellcome Trust Pathfinder Scheme

ObjectivesThis study aimed to investigate whether early-onset schizophrenia (EOS) cases differ from controls regarding volumes of the total cerebellum and the right and left cerebellar hemispheres, and volumetric asymmetry. Correlations of cerebellar volumes and asymmetry indices with severity of symptoms and general functioning in cases of EOS were also assessed.MethodsAdolescents with EOS (n = 23) were compared with controls (n = 23). Sociodemographic and clinical data, and magnetic resonance imaging scans that were acquired for routine clinical purposes were collected retrospectively. Cerebellar volumes were evaluated using the stereological method. Asymmetry indices were subsequently calculated. Scores of the Positive and Negative Syndrome Scale and the Children’s Global Assessment Scale were used to assess the severity of symptoms and general functionality.ResultsThere were no significant differences in any of the cerebellar volumes and asymmetry indices between the two groups. Neither cerebellar volumes nor asymmetry indices were correlated with the severity of symptoms and general functionality in EOS.ConclusionsOur findings suggest that the early-onset form of schizophrenia does not show apparent volumetric changes of the cerebellum. Additionally, the neural circuits involved in formation of symptomatology may not reflect any correlation with cerebellar volumes at mid-adolescence.

In neonates supraphysiological oxygen therapy has been demonstrated to cause neuronal death in hippocampus, prefrontal cortex, parietal cortex, and retrosplenial cortex. There is a need for the detection of novel neuroprotective drugs. Neuroprotective effects of lacosamide or memantine have been demonstrated in adult patients with ischemia, trauma and status epilepticus. The effects in immature brains may be different. This study aimed to evaluate neuroprotective effects of lacosamide and memantine treatment in a hyperoxia-induced brain injury model in immature rats. This study was performed in the Animal Experiments Laboratory of Dokuz Eylul University Faculty of Medicine. Neonatal Wistar strain rat pups were exposed to hyperoxia (80% oxygen + 20% nitrogen) for five days postnatally. They were divided into five groups; hyperoxia + lacosamide, hyperoxia + memantine, hyperoxia + lacosamide and memantine, hyperoxia + saline, control groups. After termination of the experiment, brain tissues were examined. Neuron counting in examined regions were found to be higher in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups than hyperoxia + saline group. The presence of apoptotic cells evaluated with TUNEL and active Caspase-3 in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups were found to be lower compared to hyperoxia + saline group. This study demonstrates that neuron death and apoptosis in newborn rat brains after hyperoxia is reduced upon memantine treatment. This is the first study to show the effects of memantine and lacosamide on hyperoxia-induced damage in neonatal rat brains.

WOS: 000404044200010, PubMed ID: 28464723, Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylul University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders., NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [NS6277]; German Research Foundation (DFG) (Emmy Noether Arbeitsgruppe), The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Genetic studies performed in AGE's laboratory were supported by NIH Grant NS6277. SC is funded by the German Research Foundation (DFG) (Emmy Noether Arbeitsgruppe).

Background: Dropped head syndrome is an easily recognizable clinical presentation of Laurin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creative kinase. Case description: Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes. The distinctive clinical hallmark of the dropped head led us to the diagnosis of Lamin A/C-related congenital muscular dystrophy, with a pathogenic de novo mutation p.Glu3ldel in the head domain of the Lamin A/C gene in both patients. Remarkably, one patient also had a central involvement with white matter changes on brain magnetic resonance imaging. Conclusion: Lamin A/C-related dropped-head syndrome is a rapidly progressive congenital muscular dystrophy and may lead to loss of ambulation, respiratory insufficiency, and cardiac complications. Thus, the genetic diagnosis of dropped-head syndrome as L-CMD and the implicated clinical care protocols are of vital importance for these patients. This disease may be underdiagnosed, as only a few genetically confirmed cases have been reported. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Introduction: The current antidiabetic drugs have adverse side effects and the effects may decrease overtime depending oncontinuous use. In recent years, phytochemicals of natural plant origin, which show antidiabetic properties and have fewerside effects, have been the subject of research. However, studies and clinical studies on the antidiabetic and hypoglycemiceffects of Potentilla fulgens are still not enough. We aimed to examine the antidiabetic effects of P. fulgens in diabetic ratsand to contribute to new treatment approaches by comparing them with other antidiabetics.Methods: In this study, rats were divided into seven groups, one control and six diabetic groups as seven rats in each group.The rats in which diabetes was induced by streptozotocin were sacrificed after treatment with two different doses of intraperitonealand intragastric P. fulgens and standard antidiabetic drugs, metformin and gliclazide for 3 weeks.Results: Intraperitoneal administration of P. fulgens significantly improved the activity of liver enzymes related to fastingblood glucose levels and carbohydrate metabolism. Intragastric 450 mg/kg/day P. fulgens did not show adequate antidiabeticeffects. However, P. fulgens administered twice the usual dose (900 mg/kg/day) caused significant antidiabetic effects.Compared with metformin and gliclazide, it was found that P. fulgens had similar effects at high doses.Discussion and Conclusion: According to our findings, P. fulgens improves the activity of liver enzymes related to bloodglucose and glucose metabolism in diabetic rats and has significant antidiabetic effects.

Aim: This is a unique study that aimed to determine anemia and inflammatory status in simple febrile seizure vs complex febrileseizure patients. Neutrophil/lymphocyte ratio and platelet/lymphocyte ratio are positively correlated with inflammatory markersincluding TNF alpha and IL-6. They are practical, inexpensive, and valuable tools for evaluating inflammation.Materials and Methods: Patients presenting with first febrile seizures were enrolled retrospectively. We investigated hemoglobin,hematocrit, mean corpuscular volume, mean corpuscular hemoglobin concentration and red blood cell distribution width valuesand white blood cell count, neutrophil, lymphocyte count, neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and mean plateletvolume, C - reactive protein.Results: Our study showed that higher neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and lower mean platelet volumevalues in complex febrile seizure cases than simple febrile seizure cases. We determined cut-off values for neutrophil/lymphocyteratio, platelet/lymphocyte ratio, and mean platelet volume of 2.5, 10523.3, and 7.3 respectively.Conclusion: High neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and low mean platelet volume values can help distinguishsimple febrile seizure and complex febrile seizure patients and predict the clinic. The optimal cut-off values that we determined mayguide clinicians.

Bayram E, Yis U, Paketci C, Okur D, Polat I, Cakmakci H, Hiz S, Anlar B. Changes of primary headache related white matter lesions in pediatric patients. Turk J Pediatr 2018; 60: 380-384. We aimed to describe the long-term prognosis of white matter lesions detected on magnetic resonance imaging in children with primary headache. Children who were admitted with the complaint of headache and had nonspecific white matter lesions on magnetic resonance imaging were included in the study. The clinical findings of the patients were reinvestigated using the same magnetic resonance imaging scanner and acquisition protocol after at least a two year period. Magnetic resonance imaging results of the patients were documented in detail. Findings of the baseline and follow-up studies were compared with each other by the same radiologist. Among the 11 patients, 8 ( 72.7%) were male and 3 (27.3%) were female. Mean age of patients at the time of second imaging was 12.9±2.3 years. Eight (72.7%) had migraine without aura, 1 (9.1%) had tension-type headache and 2 (18.2%) had migraine with aura. The mean clinical follow-up period of the patients was 4.31±1.31 years. All patients had low headache frequency on the last control visit when compared to the first clinical findings. The follow-up magnetic resonance imaging studies showed two newly developed white matter lesions in two patients who had migraine without aura and the white matter lesions disappeared in the patient who had tension-type headache, compared to the baseline neuroimaging. Findings of the baseline and long-term follow-up magnetic resonance imaging studies of the patients with primary headache showed no significant changes in terms of the location, size and laterality. Repeated neuro-imaging studies are not warranted in the absence of the progression in clinical findings.

Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron degeneration (LMND). In a large cohort of 3,465 individuals suspected with SMA submitted for SMN1 testing to our routine diagnostic laboratory, 48.8% carried a homozygous SMN1 deletion, 2.8% a subtle mutation, and an SMN1 deletion, whereas 48.4% remained undiagnosed. Recently, several other genes implicated in SMA/LMND have been reported. Despite several efforts to establish a diagnostic algorithm for non-5q-SMA (SMA without deletion or point mutations in SMN1 [5q13.2]), data from large-scale studies are not available. We tested the clinical utility of targeted sequencing in non-5q-SMA by developing two different gene panels. We first analyzed 30 individuals with a small panel including 62 genes associated with LMND using IonTorrent-AmpliSeq target enrichment. Then, additional 65 individuals were tested with a broader panel encompassing up to 479 genes implicated in neuromuscular diseases (NMDs) with Agilent-SureSelect target enrichment. The NMD panel provided a higher diagnostic yield (33%) than the restricted LMND panel (13%). Nondiagnosed cases were further subjected to exome or genome sequencing. Our experience supports the use of gene panels covering a broad disease spectrum for diseases that are highly heterogeneous and clinically difficult to differentiate.

PubMedID: 30212767 Background: Knowledge has been expanding on myelin oligodendrocyte glycoprotein (MOG) antibody-associated central nervous system disorders. We delineate the clinical and paraclinical findings and outcome of our pediatric patients with MOG antibody seropositive disease. Methods: We retrospectively analyzed the clinical presentation, cerebrospinal fluid findings, magnetic resonance imaging (MRI) studies, course and outcome of children seropositive for anti-MOG IgG. Results: Total 20 children with neurological symptoms and serum anti-MOG IgG were identified from six centers in Turkey. Median age at onset was 9 years (mean 8.8 ± 5.0 years, range: 1.5–16.5 years). Final diagnoses were acute disseminated encephalomyelitis (ADEM) (n = 5), ADEM + optic neuritis (n = 4), neuromyelitis optica spectrum disorder (NMOSD) (n = 3), myelitis (n = 2), relapsing optic neuritis (n = 2), multiphasic DEM (n = 3), and unclassified relapsing demyelinating disease (n = 1). Seven/20 (35%) children experienced a single episode while 13/20 (65%) had a least one relapse during follow-up. On MRI, subcortical white matter, brainstem, and corpus callosum were preferentially involved regions. Full recovery was observed in 15/20 (75%) children. Conclusion: MOG autoimmunity in children has a wide clinical spectrum, tendency to relapse, and a favourable outcome compared with other relapsing demyelinating diseases. © 2018

ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families. Affected individuals exhibited a pediatric-onset neurodegenerative disorder with progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. Loss of the Drosophila paralog Parg showed lethality in response to oxidative challenge that was rescued by human ADPRHL2, suggesting functional conservation. Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition.

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of the T-cell immunodeficiency is unclear. Here, we demonstrate that the T cells of SIOD patients have undetectable levels of protein and mRNA for the IL-7 receptor alpha chain (IL7R alpha) and are unresponsive to stimulation with IL-7, indicating a loss of functional receptor. No pathogenic mutations were detected in the exons of IL7R in these patients; however, CpG sites in the IL7R promoter were hypermethylated in SIOD T cells. We propose therefore that the lack of IL7R alpha expression, associated with hypermethylation of the IL7R promoter, in T cells and possibly their earlier progenitors, restricts T-cell development in SIOD patients. (C) 2015 Elsevier Inc. All rights reserved.