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Mosaic And Germline Gain-Of-Function Variants In TLR8 Leading To Immunodeficiency With Lymphoproliferation And Bone Marrow Failure

  1. Author:
    Aluri, Jahnavi
    Bach, Alicia
    Kaviany, Saara
    Paracatu, Luana Chiquetto
    Kitcharoensakkul, Maleewan
    Walkiewicz, Magdalena
    Putnam, Christopher
    Shinawi, Marwan
    Saucier, Nermina
    Rizzi, Elise
    Harmon, Michael
    Keppel, Molly
    Ritter, Michelle
    Similuk, Morgan
    Kulm,Elaine
    Joyce, Michael
    De Jesus, Adriana
    Goldbach-Mansky, Raphaela
    Lee, Yi-Shan
    Cella, Marina
    Kendall, Peggy
    Dinauer, Mary
    Bednarski, Jeffrey
    Bemrich-Stolz, Christy
    Canna, Scott
    Abraham, Shirley
    Demczko, Matthew
    Powell, Jonathan
    Jones, Stacie
    Scurlock, Amy
    De Ravin, Suk See
    Bleesing, Jack
    Connelly, James
    Rao, V. Koneti
    Schuettpelz, Laura
    Cooper, Megan

  2. Author Address

    Washington Univ, St Louis, MO 63110 USA.Washington Univ, Sch Med, Dept Pediat, Div Hematol Oncol, St Louis, MO 63110 USA.Vanderbilt Univ, Med Ctr, Pediat Hematol Oncol, Nashville, TN USA.Washington Univ, Sch Med, Dept Pediat, Div Rheumatol Immunol & Allergy & Pulm Med, St Louis, MO 63110 USA.NIAID, Div Intramural Res, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA.Ludwig Inst Canc Res, San Diego Branch, La Jolla, CA USA.Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA.Washington Univ, Sch Med, Dept Pediat, Div Rheumatol Immunol, St Louis, MO 63110 USA.Washington Univ, Sch Med, Dept Med, Div Allergy & Immunol, St Louis, MO 63110 USA.NIAID, Centralized Sequencing Initiat, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.NCI, Clin Res Directorate, Frederick Natl Lab Canc Res, Frederick, MD 21701 USA.Nemours Childrens Specialty Care, Jacksonville, FL USA.NIAID, Translat Autoinflammatory Dis Sect, Lab Clin Invest & Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.NIAID, Translat Autoinflammatory Dis Sect, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.Washington Univ, Sch Med, Dept Pathol & Immunol, Div Anat & Mol Pathol, St Louis, MO USA.Washington Univ, Sch Med, Dept Pathol & Immunol, Div Immunol, St Louis, MO USA.Univ Alabama Birmingham, Sch Med, Dept Pediat, Div Hematol & Oncol, Birmingham, AL USA.Univ Pittsburgh, UPMC Childrens Hosp, Pittsburgh, PA 15260 USA.Univ New Mexico, Dept Pediat, Div Hematol & Oncol, Albuquerque, NM 87131 USA.Nemours Alfred I DuPont Hosp Children, Div Diagnost Referral, Dept Pediat, Wilmington, DE 19803 USA.Nemours Alfred I DuPont Hosp Children, Div Pediat Hematol Oncol, Dept Pediat, Wilmington, DE 19803 USA.Univ Arkansas Med Sci, Div Allergy & Immunol, Dept Pediat, Little Rock, AR 72205 USA.Arkansas Childrens Hosp, 800 Marshall St, Little Rock, AR 72202 USA.NIAID, Lab Clin Immunol & Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.Cincinnati Childrens Hosp Med Ctr, Div Bone Marrow Transplantat & Immunodeficiency, Cincinnati, OH 45229 USA.Vanderbilt Univ, Med Ctr, Pediat Hem Onc BMT, Nashville, TN USA.
    1. Year: 2021
    2. Date: Apr
  2. Journal: Journal of Clinical Immunology
  3. Springer/Plenum Publishers
    1. 41
    2. Supplement 1
    3. Pages: S7-S8
  5. Type of Article: Meeting Abstract
  6. ISSN: 0271-9142
  1. Keywords:

External Sources

  1. View record in Web of Science®
  2. WOS: 000639851600010

Library Notes

  1. Fiscal Year: FY2020-2021
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