title: Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.
authors.forename: Joyce
authors.initials: J
authors.lastname: Geelen
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Judith
authors.initials: J
authors.lastname: Meijer
authors.forename: Frans W
authors.initials: FW
authors.lastname: Verheijen
authors.forename: Andre B P
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: Adilia
authors.initials: A
authors.lastname: Warris
authors.forename: Carlo
authors.initials: C
authors.lastname: Marcelis
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics; D000361:Agammaglobulinemia / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D024182:Uniparental Disomy
chemical_list: D000243:Adenosine Deaminase