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Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Kuehn, Hye Sun; Niemela, Julie E; Sreedhara, Karthik; Stoddard, Jennifer L; Grossman, Jennifer; Wysocki, Christian A; de la Morena, M Teresa; Garofalo, Mary; Inlora, Jingga; Snyder, Michael P; Lewis, David B; Stratakis, Constantine A; Fleisher, Thomas A; Rosenzweig, Sergio D.
Affiliation
  • Kuehn HS; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
  • Niemela JE; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
  • Sreedhara K; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
  • Stoddard JL; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
  • Grossman J; Division of Hematology and Hematologic Malignancies, Alberta Health Services, Calgary, AB, Canada.
  • Wysocki CA; Division of Allergy and Immunology, Department of Internal Medicine and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.
  • de la Morena MT; Division of Allergy and Immunology, Department of Internal Medicine and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.
  • Garofalo M; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD.
  • Inlora J; Department of Genetics and.
  • Snyder MP; Department of Genetics and.
  • Lewis DB; Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA; and.
  • Stratakis CA; Section on Endocrinology and Genetics.
  • Fleisher TA; Program on Developmental Endocrinology and Genetics, and.
  • Rosenzweig SD; Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD.
Blood ; 130(13): 1553-1564, 2017 09 28.
Article in En | MEDLINE | ID: mdl-28778864
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Severe Combined Immunodeficiency / Codon, Nonsense / NF-kappa B p52 Subunit Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Blood Year: 2017 Type: Article Affiliation country: Moldova
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Severe Combined Immunodeficiency / Codon, Nonsense / NF-kappa B p52 Subunit Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Blood Year: 2017 Type: Article Affiliation country: Moldova