title: Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.
authors.affiliation: Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
authors.forename: Craig D
authors.initials: CD
authors.lastname: Platt
authors.affiliation: Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
authors.forename: Michel J
authors.initials: MJ
authors.lastname: Massaad
authors.affiliation: Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
authors.forename: Brittney
authors.initials: B
authors.lastname: Cangemi
authors.affiliation: Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
authors.forename: Birgitta
authors.initials: B
authors.lastname: Schmidt
authors.affiliation: Section of Pediatric Allergy & Immunology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Hasan
authors.initials: H
authors.lastname: Aldhekri
authors.affiliation: Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address: raif.geha@childrens.harvard.edu.
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
mesh_terms: D000483:Alleles; D015415:Biomarkers; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D053616:Janus Kinase 3 / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D022821:RNA Splice Sites; D012867:Skin / Q000378:metabolism / Q000473:pathology
chemical_list: D015415:Biomarkers; D022821:RNA Splice Sites; C507933:JAK3 protein, human; D053616:Janus Kinase 3