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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
Frontiers in Genetics, ISSN 1664-8021, 10/2019, Volume 10
Omenn syndrome is a rare autosomal recessive disorder characterized by severe, combined immunodeficiency and autoimmune features. In this case study, we found... 
T cells | Genetic aspects | B cells | mutation | Immune responses | Omenn syndrome | SCID | RAG1 gene
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
Autoimmunity Reviews, ISSN 1568-9972, 01/2019, Volume 18, Issue 1, pp. 15 - 20
In recent years, the cross talk between the liver and the immune system is being uncovered, in part by studying liver involvement in primary immune... 
Autoimmunity | Hepatitis | Transplantation | Liver | Primary immunodeficiency | FOOD ALLERGY | AUTOIMMUNE HEPATITIS | OMENN SYNDROME | OF-FUNCTION MUTATIONS | IMMUNOLOGY | DEFICIENCY | CHILDREN | PATHOGENESIS | THROMBOCYTOPENIC PURPURA | PEANUT ALLERGY | STEM-CELL TRANSPLANTATION
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 | Immunobiology and Immunotherapy
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2015, Volume 125, Issue 11, pp. 4135 - 4148
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