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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 2, pp. 543 - 552.e5
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 135, Issue 6, pp. 1578 - 1588.e5
Background PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase... 
Allergy and Immunology | autoimmunity | PRKDC | DNA-dependent protein kinase catalytic subunit | Autoimmune regulator | VDJ recombination | severe combined immunodeficiency | tolerance | recombination-activating gene | AUTOANTIBODIES | DEFECTS | HYPEREOSINOPHILIA OMENNS SYNDROME | IMMUNOLOGY | DEFICIENCY | RESPONSES | THYMUS | CALCIUM-SENSING RECEPTOR | ALLERGY | DISEASE | T-CELLS | Th1 Cells - pathology | Immunologic Deficiency Syndromes - pathology | Granuloma - metabolism | Humans | Autoimmunity - genetics | Male | Th2 Cells - immunology | Autoantibodies - biosynthesis | Th1 Cells - immunology | Th1 Cells - metabolism | Young Adult | DNA End-Joining Repair - immunology | DNA-Activated Protein Kinase - genetics | Nuclear Proteins - deficiency | Female | V(D)J Recombination - immunology | B-Lymphocytes - pathology | Immunologic Deficiency Syndromes - immunology | Nuclear Proteins - genetics | Transcription Factors - immunology | DNA-Activated Protein Kinase - deficiency | B-Lymphocytes - metabolism | Th2 Cells - pathology | Skin Neoplasms - pathology | Granuloma - genetics | Skin Neoplasms - immunology | Gene Expression Regulation | Immune Tolerance | Transcription Factors - genetics | Nuclear Proteins - immunology | Th2 Cells - metabolism | Skin Neoplasms - metabolism | Granuloma - pathology | Animals | B-Lymphocytes - immunology | Skin Neoplasms - genetics | Adolescent | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Granuloma - immunology | Mice | Mutation | DNA-Activated Protein Kinase - immunology | Autoimmunity | Genetic research | Genetic aspects | T cells | Immunodeficiency | T cell receptors | Kinases | Genes | Immune system | Life Sciences | Microbiology and Parasitology | Immunology | Bacteriology | Virology
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 360 - 363.e6
  Allogenic hematopoietic stem cell transplantation was curative in 1 patient.1,2 TRNT1 is an enzyme necessary for tRNA aminoacylation by adding 2 cytosine-and... 
Allergy and Immunology | CCA | SUBPOPULATIONS | ALLERGY | CONGENITAL SIDEROBLASTIC ANEMIA | FEVERS | DEVELOPMENTAL DELAY SIFD | IMMUNOLOGY | DEFICIENCY | REFERENCE VALUES | Genetic aspects | Hospitals | Immunodeficiency | Proteins | Cataracts | Immunoglobulins | Congenital diseases | Disease | Anemia | Lymphocytes | Laboratories | Mutation | Hearing impairment | Patients | Age
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2016, Volume 20, Issue 4, pp. 604 - 610
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 12, pp. 1159 - 1169
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1752 - 1755
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 2/2017, Volume 37, Issue 2, pp. 123 - 132
Journal Article
Current Opinion in Immunology, ISSN 0952-7915, 2015, Volume 37, pp. 1 - 5
Journal Article
by O’Donnell-Luria, Anne H and Pais, Lynn S and Faundes, Víctor and Wood, Jordan C and Sveden, Abigail and Luria, Victor and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Anderlid, Britt Marie and Azzarello-Burri, Silvia and Basinger, Alice A and Bianchini, Claudia and Bird, Lynne M and Buchert, Rebecca and Carre, Wilfrid and Ceulemans, Sophia and Charles, Perrine and Cox, Helen and Culliton, Lisa and Currò, Aurora and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Elizabeth and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and de Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and ... and Deciphering Developmental Disorders (DDD) Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
We delineate a -related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in (28... 
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors | Report
Journal Article