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by Kwan, Antonia and Abraham, Roshini S and Currier, Robert and Brower, Amy and Andruszewski, Karen and Abbott, Jordan K and Baker, Mei and Ballow, Mark and Bartoshesky, Louis E and Bonilla, Francisco A and Brokopp, Charles and Brooks, Edward and Caggana, Michele and Celestin, Jocelyn and Church, Joseph A and Comeau, Anne Marie and Connelly, James A and Cowan, Morton J and Cunningham-Rundles, Charlotte and Dasu, Trivikram and Dave, Nina and De La Morena, Maria T and Duffner, Ulrich and Fong, Chin-To and Forbes, Lisa and Freedenberg, Debra and Gelfand, Erwin W and Hale, Jaime E and Hanson, I. Celine and Hay, Beverly N and Hu, Diana and Infante, Anthony and Johnson, Daisy and Kapoor, Neena and Kay, Denise M and Kohn, Donald B and Lee, Rachel and Lehman, Heather and Lin, Zhili and Lorey, Fred and Abdel-Mageed, Aly and Manning, Adrienne and McGhee, Sean and Moore, Theodore B and Naides, Stanley J and Notarangelo, Luigi D and Orange, Jordan S and Pai, Sung-Yun and Porteus, Matthew and Rodriguez, Ray and Romberg, Neil and Routes, John and Ruehle, Mary and Rubenstein, Arye and Saavedra-Matiz, Carlos A and Scott, Ginger and Scott, Patricia M and Secord, Elizabeth and Seroogy, Christine and Shearer, William T and Siegel, Subhadra and Silvers, Stacy K and Stiehm, E. Richard and Sugerman, Robert W and Sullivan, John L and Tanksley, Susan and Tierce, Millard L and Verbsky, James and Vogel, Beth and Walker, Rosalyn and Walkovich, Kelly and Walter, Jolan E and Wasserman, Richard L and Watson, Michael S and Weinberg, Geoffrey A and Weiner, Leonard B and Wood, Heather and Yates, Anne B and Puck, Jennifer M
JAMA, ISSN 0098-7484, 08/2014, Volume 312, Issue 7, pp. 729 - 738
Journal Article
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, ISSN 0091-6749, 07/2014, Volume 134, Issue 1, pp. 243 - 244
Journal Article
Blood, ISSN 0006-4971, 12/2017, Volume 130, Issue 25, pp. 2718 - 2727
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2019, Volume 143, Issue 2, pp. 726 - 735
Mutations in recombination-activating gene (RAG) 1 and RAG2 are associated with a broad range of clinical and immunologic phenotypes in human subjects. Using a... 
Recombination-activating gene 2 | autoimmunity | VDJ recombination | severe combined immunodeficiency | Omenn syndrome | genotype-phenotype correlation | DEFECTS | V(D)J RECOMBINATION | IMMUNE-DEFICIENCY | OMENN-SYNDROME | IMMUNOLOGY | ALLERGY | DISEASE | SPECTRUM | RAG1/2 | Autoimmunity | Genetic research | Genetic aspects | Genes
Journal Article
Blood, ISSN 0006-4971, 07/2018, Volume 132, Issue 3, pp. 281 - 292
Hypomorphic RAG1 mutations allowing residual T-and B-cell development have been found in patients presenting with delayed-onset combined immune deficiency with... 
B-CELLS | GENE REARRANGEMENTS | CLINICAL PHENOTYPES | V(D)J RECOMBINATION | OMENN-SYNDROME | CENTRAL TOLERANCE | HEMATOLOGY | IMMUNOGLOBULIN-SECRETING CELLS | RECEPTOR REPERTOIRE | T-CELLS | IMMUNODEFICIENCY | Index Medicus | Abridged Index Medicus | 12 | Immunobiology and Immunotherapy | 10
Journal Article
PLOS ONE, ISSN 1932-6203, 05/2012, Volume 7, Issue 5
Forkhead box N1 (FOXN1) is a transcription factor crucial for thymic epithelium development and prevention of its involution. Investigation of a patient with a... 
NUDE-MICE | MOUSE | BIOLOGY | REGULATORY T-CELLS | GENE-EXPRESSION | PHENOTYPE | OMENN SYNDROME | 22Q11.2 DELETION SYNDROME | DIFFERENTIATION | FOXP3 | FOXN1
Journal Article
Clinical & Experimental Immunology, ISSN 0009-9104, 02/2019, Volume 195, Issue 2, pp. 202 - 212
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 4, pp. 1099 - 1108.e12
Journal Article
Journal Article
ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS, ISSN 0004-069X, 12/2016, Volume 64, pp. S177 - S183
Mutations in RAG1 gene may result in different types of severe combined immunodeficiencies. In this study, we compare clinical symptoms and laboratory findings... 
Severe combined immunodeficiency | OMENN-SYNDROME | PHENOTYPES | IMMUNOLOGY | Omenn syndrome | RAG1/2 genes | DEFICIENCY
Journal Article
Nasza Dermatologia Online, ISSN 2081-9390, 01/2012, Volume 3, Issue 1, pp. 55 - 56
Gilbert Omenn is a well-known American Geneticist. In the 1965, He reported a rare genetic disorder —later known as Omenn syndrome. This syndrome is a variant... 
dermatology | erythroderma | Omenn syndrome
Journal Article
EUROPEAN JOURNAL OF PEDIATRICS, ISSN 0340-6199, 05/2011, Volume 170, Issue 5, pp. 561 - 571
Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency characterized by absence of functional T lymphocytes. It is... 
Therapy | SEVERE COMBINED IMMUNODEFICIENCY | V-BETA REPERTOIRE | Primary immunodeficiencies | Severe combined immunodeficiencies | COMBINED IMMUNE-DEFICIENCY | BONE-MARROW | V(D)J RECOMBINATION | OMENN-SYNDROME | Lymphocytes | PEDIATRICS | GENE-THERAPY | Diagnosis | FLOW-CYTOMETRIC ANALYSIS | STEM-CELL TRANSPLANTATION | ADENOSINE-DEAMINASE DEFICIENCY
Journal Article
Clinical Immunology, ISSN 1521-6616, 02/2018, Volume 187, pp. 68 - 75
Defects in DNA Recombination due to mutations in 1/2 or result in combined immunodeficiency (CID) with a range of disease severity. We present the clinical,... 
Rag | Artemis | DCLRE1C | Combined immunodeficiency | DNA recombination | SCID | GENOTYPE-PHENOTYPE CORRELATION | UNITED-STATES | SEVERE COMBINED IMMUNODEFICIENCY | RAG MUTATIONS | COMBINED IMMUNE-DEFICIENCY | BONE-MARROW | B-CELL DIFFERENTIATION | OMENN-SYNDROME | IMMUNOLOGY | SCID PATIENTS | DCLRE1C MUTATIONS | Index Medicus
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2015, Volume 125, Issue 11, pp. 4135 - 4148
Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency... 
MEDICINE, RESEARCH & EXPERIMENTAL | MYASTHENIA-GRAVIS PATIENTS | GRANULOMATOUS-DISEASE | SYSTEMIC-LUPUS-ERYTHEMATOSUS | SEVERE COMBINED IMMUNODEFICIENCY | SYNDROME TYPE-I | OMENN-SYNDROME | CHRONIC MUCOCUTANEOUS CANDIDIASIS | AUTOIMMUNE-DISEASE | IMMUNOGLOBULIN-SECRETING CELLS | ACTIVATING GENE-1 DEFICIENCY | Antibody Specificity | Autoantibodies - blood | Humans | Granulomatous Disease, Chronic - genetics | Child, Preschool | Infant | Male | Homeodomain Proteins - immunology | Granulomatous Disease, Chronic - immunology | DNA-Binding Proteins - deficiency | Interferon-Induced Helicase, IFIH1 | Autoimmune Diseases - genetics | Young Adult | Antibodies, Neutralizing - immunology | Nuclear Proteins - deficiency | Adult | Female | Nuclear Proteins - genetics | Child | Cytokines - immunology | Disease Models, Animal | Virus Diseases - immunology | Toll-Like Receptors - immunology | Autoimmune Diseases - immunology | Severe Combined Immunodeficiency - therapy | Granulomatous Disease, Chronic - therapy | Severe Combined Immunodeficiency - immunology | DNA-Binding Proteins - genetics | Mice, Inbred Strains | Homeodomain Proteins - genetics | Toll-Like Receptors - agonists | Severe Combined Immunodeficiency - genetics | Autoantibodies - immunology | Animals | Autoantigens - immunology | Adolescent | DEAD-box RNA Helicases - immunology | Mice | Antibodies, Neutralizing - blood | Phenotype | Autoantibodies | Gene mutations | Genetic aspects | Health aspects | Identification and classification | Immune system | Immunoglobulins | Vitiligo | Psoriasis | Lymphocytes | Adenoviruses | Infections | Autoimmune diseases | Patients | Age | Viral infections | Methods | Children & youth | Index Medicus | Abridged Index Medicus
Journal Article