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  1. Article ; Online: Sleep profiles in children with 22q deletion syndrome: a study of 100 consecutive children seen in a multidisciplinary clinic.

    Ingram, David G / Raje, Nikita / Arganbright, Jill M

    Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

    2022  Volume 19, Issue 1, Page(s) 27–34

    Abstract: ... environmental, and pharmacologic interventions.: Citation: Ingram DG, Raje N, Arganbright JM. Sleep profiles ...

    Abstract Study objectives: While previous studies have suggested a high prevalence of sleep disorders in children with 22q deletion syndrome (22qDS), they were limited by potential selection bias. In the current investigation, we assessed sleep characteristics in 100 consecutive children presenting to a 22qDS multidisciplinary clinic.
    Methods: An observational retrospective case series of consecutive children presenting to 22qDS multidisciplinary clinic was performed. Children aged 2 to 17 years of age were included, and data were abstracted including sleep characteristics (sleep history, Childhood Sleep Habits Questionnaire [CSHQ], and free response questions), comorbid medical conditions, and demographics.
    Results: Overall, 100 children were included in analysis, 85% of whom had scores on the CSHQ consistent with clinically meaningful sleep disorder. Sleep problems were common in all domains of the CSHQ, including daytime sleepiness (66%), sleep-onset delay (54%), parasomnias (52%), night wakings (52%), sleep-disordered breathing (49%), sleep duration (45%), bedtime resistance (38%), and sleep anxiety (33%). Overall CSHQ score was significantly associated with daytime behavioral problems and speech delay [F
    Conclusions: These data confirm a high prevalence of sleep disorders in a large, unselected sample of children with 22qDS, and suggest an important relationship between sleep dysfunction and daytime behavioral challenges. Our findings highlight the potential role for multimodal treatment approaches including behavioral, environmental, and pharmacologic interventions.
    Citation: Ingram DG, Raje N, Arganbright JM. Sleep profiles in children with 22q deletion syndrome: a study of 100 consecutive children seen in a multidisciplinary clinic.
    MeSH term(s) Humans ; Child ; Child, Preschool ; Adolescent ; Retrospective Studies ; Sleep ; Sleep Apnea Syndromes/complications ; Surveys and Questionnaires ; Sleep Wake Disorders/complications
    Language English
    Publishing date 2022-08-17
    Publishing country United States
    Document type Observational Study ; Journal Article
    ZDB-ID 2397213-0
    ISSN 1550-9397 ; 1550-9389
    ISSN (online) 1550-9397
    ISSN 1550-9389
    DOI 10.5664/jcsm.10238
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: T Cell Transcriptome in Chromosome 22q11.2 Deletion Syndrome.

    Raje, Nikita R / Noel-MacDonnell, Janelle R / Shortt, Katherine A / Gigliotti, Nicole M / Chan, Marcia A / Heruth, Daniel P

    Journal of immunology (Baltimore, Md. : 1950)

    2022  Volume 209, Issue 5, Page(s) 874–885

    Abstract: Phenotypic variations of chromosome 22q11.2 deletion syndrome (22qDS) have unclear explanations. T cell lymphopenia in 22qDS related to varying degrees of thymic hypoplasia contributes to the phenotypic heterogeneity. No phenotype correlation with ... ...

    Abstract Phenotypic variations of chromosome 22q11.2 deletion syndrome (22qDS) have unclear explanations. T cell lymphopenia in 22qDS related to varying degrees of thymic hypoplasia contributes to the phenotypic heterogeneity. No phenotype correlation with genotype or deletion size is known for lymphopenia. We investigated gene expression in human T cells of participants with and without 22qDS and T cells of participants with 22qDS with low or normal T cells. Peripheral blood was collected from participants aged 5-8 y. Immune function was checked. RNA sequencing was completed on isolated T cells, and differential gene expression profiles of T cells between 22qDS and healthy control subjects were established. A total of 360 genes were differentially expressed (
    MeSH term(s) Chromosomes ; DiGeorge Syndrome/genetics ; Humans ; Liver X Receptors/genetics ; Lymphopenia/genetics ; Retinoid X Receptors/genetics ; T-Lymphocytes ; Transcriptome
    Chemical Substances Liver X Receptors ; Retinoid X Receptors
    Language English
    Publishing date 2022-08-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3056-9
    ISSN 1550-6606 ; 0022-1767 ; 1048-3233 ; 1047-7381
    ISSN (online) 1550-6606
    ISSN 0022-1767 ; 1048-3233 ; 1047-7381
    DOI 10.4049/jimmunol.2100346
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Immunoglobulin E as a Biomarker in Asthma.

    Rath, Niharika / Raje, Nikita / Rosenwasser, Lanny

    Immunology and allergy clinics of North America

    2018  Volume 38, Issue 4, Page(s) 587–597

    Abstract: Asthma is a chronic disease that affects children and adults with significant morbidity and mortality. It is multifactorial, with genetic and environmental factors affecting the overall course of the disease. Both specific and total immunoglobulin (Ig)E ... ...

    Abstract Asthma is a chronic disease that affects children and adults with significant morbidity and mortality. It is multifactorial, with genetic and environmental factors affecting the overall course of the disease. Both specific and total immunoglobulin (Ig)E can be used in specific phenotypes such as allergic asthma. Using IgE as a biomarker for asthma provides a target for management and treatment. Biotherapeutics continue to emerge as important advances in asthma treatment, and their effect on IgE and its biomarker role continue to be studied.
    MeSH term(s) Asthma/blood ; Asthma/immunology ; Biomarkers/blood ; Humans ; Immunoglobulin E/blood ; Immunoglobulin E/immunology
    Chemical Substances Biomarkers ; Immunoglobulin E (37341-29-0)
    Language English
    Publishing date 2018-07-31
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 92606-1
    ISSN 1557-8607 ; 0889-8561
    ISSN (online) 1557-8607
    ISSN 0889-8561
    DOI 10.1016/j.iac.2018.06.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Overview of Immunodeficiency Disorders.

    Raje, Nikita / Dinakar, Chitra

    Immunology and allergy clinics of North America

    2015  Volume 35, Issue 4, Page(s) 599–623

    Abstract: The spectrum of primary immunodeficiency disorders (PIDs) is expanding. It includes typical disorders that primarily present with defective immunity as well as disorders that predominantly involve other systems and show few features of impaired immunity. ...

    Abstract The spectrum of primary immunodeficiency disorders (PIDs) is expanding. It includes typical disorders that primarily present with defective immunity as well as disorders that predominantly involve other systems and show few features of impaired immunity. The rapidly growing list of new immunodeficiency disorders and treatment modalities makes it imperative for providers to stay abreast of the latest and best management strategies. This article presents a brief overview of recent clinical advances in PIDs.
    MeSH term(s) Animals ; Autoimmunity ; Humans ; Immunity ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/epidemiology ; Immunologic Deficiency Syndromes/etiology ; Immunologic Deficiency Syndromes/prevention & control ; Immunologic Deficiency Syndromes/therapy ; Prognosis ; Signal Transduction
    Language English
    Publishing date 2015-11
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 92606-1
    ISSN 1557-8607 ; 0889-8561
    ISSN (online) 1557-8607
    ISSN 0889-8561
    DOI 10.1016/j.iac.2015.07.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection.

    Tucker, Megan H / Yu, Wei / Menden, Heather / Xia, Sheng / Schreck, Carl F / Gibson, Margaret / Louiselle, Daniel / Pastinen, Tomi / Raje, Nikita / Sampath, Venkatesh

    The Journal of clinical investigation

    2023  Volume 133, Issue 11

    Abstract: Neonatal herpes simplex virus (HSV) infection is a devastating disease with substantial morbidity and mortality. The genetic basis of susceptibility to HSV in neonates remains undefined. We evaluated a male infant with neonatal skin/eye/mouth (SEM) HSV-1 ...

    Abstract Neonatal herpes simplex virus (HSV) infection is a devastating disease with substantial morbidity and mortality. The genetic basis of susceptibility to HSV in neonates remains undefined. We evaluated a male infant with neonatal skin/eye/mouth (SEM) HSV-1 disease, who had complete recovery after acyclovir but developed HSV-1 encephalitis at 1 year of age. An immune workup showed an anergic PBMC cytokine response to TLR3 stimulation but no other TLRs. Exome sequencing identified rare missense variants in IFN-regulatory factor 7 (IRF7) and UNC-93 homolog B1 (UNC93B1). PBMC single-cell RNA-Seq done during childhood revealed decreased expression of several innate immune genes and a repressed TLR3 pathway signature at baseline in several immune cell populations, including CD14 monocytes. Functional studies in fibroblasts and human leukemia monocytic THP1 cells showed that both variants individually suppressed TLR3-driven IRF3 transcriptional activity and the type I IFN response in vitro. Furthermore, fibroblasts expressing the IRF7 and UNC93B1 variants had higher intracellular viral titers with blunting of the type I IFN response upon HSV-1 challenge. This study reports an infant with recurrent HSV-1 disease complicated by encephalitis associated with deleterious variants in the IRF7 and UNC93B1 genes. Our results suggest that TLR3 pathway mutations may predispose neonates to recurrent, severe HSV.
    MeSH term(s) Humans ; Infant ; Infant, Newborn ; Male ; Encephalitis, Herpes Simplex/genetics ; Herpes Simplex/genetics ; Herpesvirus 1, Human ; Interferon Type I ; Leukocytes, Mononuclear/metabolism ; Membrane Transport Proteins ; Toll-Like Receptor 3/genetics
    Chemical Substances Interferon Type I ; IRF7 protein, human ; Membrane Transport Proteins ; Toll-Like Receptor 3 ; UNC93B1 protein, human
    Language English
    Publishing date 2023-06-01
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3067-3
    ISSN 1558-8238 ; 0021-9738
    ISSN (online) 1558-8238
    ISSN 0021-9738
    DOI 10.1172/JCI154016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Hemophagocytic lymphohistiocytosis: A concise review for the practicing physician.

    Sifers, Travis M / Raje, Nikita / Dinakar, Chitra

    Allergy and asthma proceedings

    2016  Volume 37, Issue 3, Page(s) 256–258

    MeSH term(s) Disease Management ; Humans ; Lymphohistiocytosis, Hemophagocytic ; Physicians
    Language English
    Publishing date 2016-05
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1312445-6
    ISSN 1539-6304 ; 1088-5412
    ISSN (online) 1539-6304
    ISSN 1088-5412
    DOI 10.2500/aap.2016.37.3948
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection

    Megan H. Tucker / Wei Yu / Heather Menden / Sheng Xia / Carl F. Schreck / Margaret Gibson / Daniel Louiselle / Tomi Pastinen / Nikita Raje / Venkatesh Sampath

    The Journal of Clinical Investigation, Vol 133, Iss

    2023  Volume 11

    Abstract: Neonatal herpes simplex virus (HSV) infection is a devastating disease with substantial morbidity and mortality. The genetic basis of susceptibility to HSV in neonates remains undefined. We evaluated a male infant with neonatal skin/eye/mouth (SEM) HSV-1 ...

    Abstract Neonatal herpes simplex virus (HSV) infection is a devastating disease with substantial morbidity and mortality. The genetic basis of susceptibility to HSV in neonates remains undefined. We evaluated a male infant with neonatal skin/eye/mouth (SEM) HSV-1 disease, who had complete recovery after acyclovir but developed HSV-1 encephalitis at 1 year of age. An immune workup showed an anergic PBMC cytokine response to TLR3 stimulation but no other TLRs. Exome sequencing identified rare missense variants in IFN-regulatory factor 7 (IRF7) and UNC-93 homolog B1 (UNC93B1). PBMC single-cell RNA-Seq done during childhood revealed decreased expression of several innate immune genes and a repressed TLR3 pathway signature at baseline in several immune cell populations, including CD14 monocytes. Functional studies in fibroblasts and human leukemia monocytic THP1 cells showed that both variants individually suppressed TLR3-driven IRF3 transcriptional activity and the type I IFN response in vitro. Furthermore, fibroblasts expressing the IRF7 and UNC93B1 variants had higher intracellular viral titers with blunting of the type I IFN response upon HSV-1 challenge. This study reports an infant with recurrent HSV-1 disease complicated by encephalitis associated with deleterious variants in the IRF7 and UNC93B1 genes. Our results suggest that TLR3 pathway mutations may predispose neonates to recurrent, severe HSV.
    Keywords Genetics ; Infectious disease ; Medicine ; R
    Language English
    Publishing date 2023-06-01T00:00:00Z
    Publisher American Society for Clinical Investigation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: Severe immunodeficiency associated with acute lymphoblastic leukemia and its treatment.

    Raje, Nikita / Snyder, Brenda L / Hill, David A / Streicher, Jenna L / Sullivan, Kate E

    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

    2018  Volume 120, Issue 5, Page(s) 537–538.e1

    MeSH term(s) Adrenal Cortex Hormones/therapeutic use ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Bacterial Infections/diagnosis ; Bacterial Infections/drug therapy ; Bacterial Infections/genetics ; Bacterial Infections/immunology ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 4 ; Exanthema/chemically induced ; Exanthema/drug therapy ; Exanthema/genetics ; Exanthema/immunology ; Female ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/drug therapy ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/immunology ; Infant, Newborn ; Methotrexate/adverse effects ; Opportunistic Infections/diagnosis ; Opportunistic Infections/drug therapy ; Opportunistic Infections/genetics ; Opportunistic Infections/immunology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/immunology ; Remission Induction ; Translocation, Genetic ; Treatment Outcome
    Chemical Substances Adrenal Cortex Hormones ; Immunoglobulins, Intravenous ; Methotrexate (YL5FZ2Y5U1)
    Keywords covid19
    Language English
    Publishing date 2018-03-19
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1228189-x
    ISSN 1534-4436 ; 0003-4738 ; 1081-1206
    ISSN (online) 1534-4436
    ISSN 0003-4738 ; 1081-1206
    DOI 10.1016/j.anai.2017.12.023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Genetic variation within the histamine pathway among patients with asthma--a pilot study.

    Raje, Nikita / Vyhlidal, Carrie A / Dai, Hongying / Jones, Bridgette L

    The Journal of asthma : official journal of the Association for the Care of Asthma

    2014  Volume 52, Issue 4, Page(s) 353–362

    Abstract: Objective: Histamine is an important mediator in the pathophysiology of asthma. We have previously reported that HRH1 is differentially expressed among those with asthma compared to those without asthma. Single histamine-related genes have also been ... ...

    Abstract Objective: Histamine is an important mediator in the pathophysiology of asthma. We have previously reported that HRH1 is differentially expressed among those with asthma compared to those without asthma. Single histamine-related genes have also been associated with asthma. We aimed to evaluate known single nucleotide polymorphisms (SNPs) in genes along the histamine biotransformation and response pathway, and determine their association with asthma and HRH1 mRNA expression.
    Methods: We enrolled children and adults (n = 93) with/without asthma who met inclusion/exclusion criteria. Genotyping was performed for nine known SNPs in the HDC, HRH1, HRH4, HNMT and ABP1 genes. HRH1 mRNA expression was determined on RNA from buccal tissue. General linear model, Fisher's exact test and Chi-square test were used to determine differences in allele, genotype and haplotype frequency between subjects with and without asthma and differential HRH1 mRNA expression relative to genotype. Statistical significance was determined by p < 0.05.
    Results: No difference was observed in genotype/allele frequency for the nine SNPs between subjects with and without asthma. The HNMT-1639C/-464C/314C/3'UTRA haplotype was more frequently observed in those without asthma than those with asthma (p = 0.03). We also observed genetic differences relative to race and gender. HNMT 314 genotype CT was more frequent in males with asthma compared to those without asthma (p = 0.04).
    Conclusions: Histamine pathway haplotype was associated with a diagnosis of asthma in our cohort but allele and genotype were not. Subgroup evaluations may also be important. Further studies are needed to determine the potential biological/clinical significance of our findings.
    MeSH term(s) Adult ; African Americans ; Amine Oxidase (Copper-Containing)/genetics ; Asthma/genetics ; Child ; Continental Population Groups ; European Continental Ancestry Group ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; Haplotypes ; Histamine/metabolism ; Humans ; Male ; Pilot Projects ; Polymorphism, Single Nucleotide ; RNA, Messenger ; Receptors, G-Protein-Coupled/genetics ; Receptors, Histamine/genetics ; Receptors, Histamine H4 ; Sex Factors ; Young Adult
    Chemical Substances HRH4 protein, human ; RNA, Messenger ; Receptors, G-Protein-Coupled ; Receptors, Histamine ; Receptors, Histamine H4 ; Histamine (820484N8I3) ; Amine Oxidase (Copper-Containing) (EC 1.4.3.21) ; AOC1 protein, human (EC 1.4.3.22)
    Language English
    Publishing date 2014-10-30
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 603816-5
    ISSN 1532-4303 ; 0277-0903
    ISSN (online) 1532-4303
    ISSN 0277-0903
    DOI 10.3109/02770903.2014.973501
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Utility of next generation sequencing in clinical primary immunodeficiencies.

    Raje, Nikita / Soden, Sarah / Swanson, Douglas / Ciaccio, Christina E / Kingsmore, Stephen F / Dinwiddie, Darrell L

    Current allergy and asthma reports

    2015  Volume 14, Issue 10, Page(s) 468

    Abstract: Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that present with very similar symptoms, complicating definitive diagnosis. More than 240 genes have hitherto been associated with PIDs, of which more than 30 have been ... ...

    Abstract Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that present with very similar symptoms, complicating definitive diagnosis. More than 240 genes have hitherto been associated with PIDs, of which more than 30 have been identified in the last 3 years. Next generation sequencing (NGS) of genomes or exomes of informative families has played a central role in the discovery of novel PID genes. Furthermore, NGS has the potential to transform clinical molecular testing for established PIDs, allowing all PID differential diagnoses to be tested at once, leading to increased diagnostic yield, while decreasing both the time and cost of obtaining a molecular diagnosis. Given that treatment of PID varies by disease gene, early achievement of a molecular diagnosis is likely to enhance treatment decisions and improve patient outcomes.
    MeSH term(s) Diagnosis, Differential ; Exome ; Genetic Markers ; Genetic Testing/methods ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Humans ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/genetics ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA
    Chemical Substances Genetic Markers
    Language English
    Publishing date 2015-01-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2057370-4
    ISSN 1534-6315 ; 1529-7322
    ISSN (online) 1534-6315
    ISSN 1529-7322
    DOI 10.1007/s11882-014-0468-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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