title: A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.
abstract: Severe combined immunodeficiency (SCID) represents a genetically heterogeneous group of primary immunodeficiency disorders. Irrespective of the genetic defect, patients with SCID may be engrafted with transplacentally derived maternal T-lymphocytes that in a subset of cases may be responsive to phytohemagglutinin. Here, we present, from a genetic perspective, an SCID patient who not only harbored a novel mutation in the gene encoding the common gamma chain (gamma c) of the IL-2 receptor (IL2RG), but also carried reactive maternal T lymphocytes that produced a karyotype that was initially perplexing.
authors.affiliation: Department of Medical Genetics and Child Development, University of Pécs, József A. u. 7, 7623, Pécs, Hungary. richard.kellermayer@aok.pte.hu.
authors.forename: Richard
authors.initials: R
authors.lastname: Kellermayer
authors.affiliation: Genetics and Molecular Biology Branch, National Human Genome Research Institute, NIH, DHHS, Bethesda, MD, USA.
authors.forename: Amy P
authors.initials: AP
authors.lastname: Hsu
authors.affiliation: Department of Pediatrics, University of Pécs, Pécs, Hungary.
authors.forename: József
authors.initials: J
authors.lastname: Stankovics
authors.affiliation: Department of Immunology and Biotechnology, University of Pécs, Pécs, Hungary.
authors.forename: Péter
authors.initials: P
authors.lastname: Balogh
authors.affiliation: Department of Medical Genetics and Child Development, University of Pécs, József A. u. 7, 7623, Pécs, Hungary.
authors.forename: Kinga
authors.initials: K
authors.lastname: Hadzsiev
authors.affiliation: Department of Pediatrics, University of Pécs, Pécs, Hungary.
authors.forename: Ágnes
authors.initials: Á
authors.lastname: Vojcek
authors.affiliation: Department of Infectious Diseases and Pediatric Immunology, University of Debrecen, Debrecen, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Maródi
authors.affiliation: Department of Pediatrics, University of Pécs, Pécs, Hungary.
authors.forename: Pál
authors.initials: P
authors.lastname: Kajtár
authors.affiliation: Department of Medical Genetics and Child Development, University of Pécs, József A. u. 7, 7623, Pécs, Hungary.|MTA-PTE Clinical Genetics Research Group, Pécs, Hungary.
authors.forename: György
authors.initials: G
authors.lastname: Kosztolányi
authors.affiliation: Genetics and Molecular Biology Branch, National Human Genome Research Institute, NIH, DHHS, Bethesda, MD, USA.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
mesh_terms: D001483:Base Sequence; D041321:Chromosomes, Human, X; D006801:Humans; D007223:Infant; D053631:Interleukin Receptor Common gamma Subunit; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000276:immunology; D018123:Receptors, Interleukin / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000378:metabolism; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit; D018123:Receptors, Interleukin