title: Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
authors.forename: Mona
authors.initials: M
authors.lastname: Hedayat
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
authors.forename: Michel J
authors.initials: MJ
authors.lastname: Massaad
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
authors.forename: Yu Nee
authors.initials: YN
authors.lastname: Lee
authors.affiliation: St Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY.
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Conley
authors.affiliation: Immunology, Allergy, and Rheumatology, Baylor College of Medicine and the Texas Children's Hospital, Houston, Tex.
authors.forename: Jordan S
authors.initials: JS
authors.lastname: Orange
authors.affiliation: Department of Molecular Biology, Massachusetts General Hospital, Boston, Mass.
authors.forename: Toshiro K
authors.initials: TK
authors.lastname: Ohsumi
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Kuwait University, Kuwait City, Kuwait.
authors.forename: Waleed
authors.initials: W
authors.lastname: Al-Herz
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address: Janet.Chou@childrens.harvard.edu.
authors.forename: Janet
authors.initials: J
authors.lastname: Chou
mesh_terms: D000361:Agammaglobulinemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D001402:B-Lymphocytes / Q000276:immunology*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D018450:Disease Progression; D042241:Early Diagnosis; D017809:Fatal Outcome; D005820:Genetic Testing; D016678:Genome / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007694:Killer Cells, Natural / Q000276:immunology*; D008212:Lymphocyte Depletion; D008297:Male; D009154:Mutation / Q000235:genetics; D009894:Opportunistic Infections / Q000209:etiology / Q000276:immunology; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: D018398:Homeodomain Proteins; C064658:RAG-1 protein; D004247:DNA