K
Kathleen E. Sullivan
Researcher at Children's Hospital of Philadelphia
Publications - 238
Citations - 13072
Kathleen E. Sullivan is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Medicine & DiGeorge syndrome. The author has an hindex of 59, co-authored 197 publications receiving 11537 citations. Previous affiliations of Kathleen E. Sullivan include Johns Hopkins University School of Medicine & Johns Hopkins University.
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Journal ArticleDOI
A multiinstitutional survey of the Wiskott-Aldrich syndrome
TL;DR: It is concluded that many patients with Wiskott-Aldrich syndrome have an atypical presentation and that a panel of diagnostic tests is often required to establish the diagnosis.
Journal ArticleDOI
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
Capucine Picard,H. Bobby Gaspar,Waleed Al-Herz,Aziz Bousfiha,Jean-Laurent Casanova,Talal A. Chatila,Yanick J. Crow,Yanick J. Crow,Charlotte Cunningham-Rundles,Amos Etzioni,José Luis Franco,Steven M. Holland,Christoph Klein,Tomohiro Morio,Hans D. Ochs,Eric Oksenhendler,Jennifer M. Puck,Mimi L.K. Tang,Mimi L.K. Tang,Stuart G. Tangye,Stuart G. Tangye,Troy R. Torgerson,Kathleen E. Sullivan +22 more
TL;DR: The classification described here will serve as a critical reference for immunologists and researchers worldwide and the categorization and listing of 354 inborn errors of immunity are detailed.
Journal ArticleDOI
X-linked agammaglobulinemia: report on a United States registry of 201 patients.
Jerry A. Winkelstein,Mary C. Marino,Howard M. Lederman,Stacie M. Jones,Kathleen E. Sullivan,A. Wesley Burks,Mary Ellen Conley,Charlotte Cunningham-Rundles,Hans D. Ochs +8 more
TL;DR: A national registry of United States residents with XLA was established in 1999 to provide an updated clinical view of the disorder in a large cohort of patients and found that patients with a positive family history at the time of their birth were diagnosed before clinical symptoms developed.
Journal ArticleDOI
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
TL;DR: This work focuses on recent advances in cardiac assessment, speech, immunology, and pathophysiology of velocardiofacial syndrome, affecting nearly one in 3000 children.
Journal ArticleDOI
Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Anne S. Bassett,Donna M. McDonald-McGinn,Koenraad Devriendt,Maria Cristina Digilio,Paula Goldenberg,Alex Habel,Bruno Marino,Sólveig Óskarsdóttir,Nicole Philip,Kathleen E. Sullivan,Ann Swillen,Jacob A. S. Vorstman +11 more
TL;DR: A 12-year-old boy currently is followed by multiple sub-specialists for problems caused by the chromosome 22q11.2 deletion syndrome (22q11DS) and has mild dysmorphic facial features of a boy aged 11 years with 22q 11.2DS.