title: First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, MA, 02115, USA.
authors.forename: Ottavia M
authors.initials: OM
authors.lastname: Delmonte
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, MA, 02115, USA.|Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Biggs
authors.affiliation: Alpert Medical School, Brown University, Providence, RI, 02912, USA.
authors.forename: Anthony
authors.initials: A
authors.lastname: Hayward
authors.affiliation: Department of Pediatrics, University of Massachusetts Medical School, Jamaica Plain, MA, 02130, USA.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Comeau
authors.affiliation: Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, 20892, USA.
authors.forename: Hye Sun
authors.initials: HS
authors.lastname: Kuehn
authors.affiliation: Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, 20892, USA.
authors.forename: Sergio D
authors.initials: SD
authors.lastname: Rosenzweig
authors.affiliation: Immune Deficiency Genetics Section, Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, Room 5-3950, 10 Center Drive, MSC 1456, Bethesda, MD, 20892, USA. luigi.notarangelo2@nih.gov.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000097:blood / Q000175:diagnosis*; D007231:Infant, Newborn; D008231:Lymphopenia / Q000097:blood / Q000175:diagnosis; D008297:Male; D008840:Microfilament Proteins / Q000172:deficiency* / Q000235:genetics; D015997:Neonatal Screening
chemical_list: D007074:Immunoglobulin G; D007075:Immunoglobulin M; D008840:Microfilament Proteins; C071058:moesin
keywords: Combined immunodeficiency; lymphopenia; moesin; neutropenia; newborn screening