Biomaterial Database

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. 2006

Richard Kellermayer, and Amy P Hsu, and József Stankovics, and Péter Balogh, and Kinga Hadzsiev, and Ágnes Vojcek, and László Maródi, and Pál Kajtár, and György Kosztolányi, and Jennifer M Puck

Department of Medical Genetics and Child Development, University of Pécs, József A. u. 7, 7623, Pécs, Hungary. richard.kellermayer@aok.pte.hu.

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.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001483	Base Sequence	The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.	DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D013601	T-Lymphocytes	Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.	T Cell,T Lymphocyte,T-Cells,Thymus-Dependent Lymphocytes,Cell, T,Cells, T,Lymphocyte, T,Lymphocyte, Thymus-Dependent,Lymphocytes, T,Lymphocytes, Thymus-Dependent,T Cells,T Lymphocytes,T-Cell,T-Lymphocyte,Thymus Dependent Lymphocytes,Thymus-Dependent Lymphocyte
D016511	Severe Combined Immunodeficiency	Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).	Bare Lymphocyte Syndrome,Immunodeficiency, Severe Combined,Omenn Syndrome,Immunodeficiency Syndrome, Severe Combined,Immunologic Deficiency, Severe Combined,Omenn's Syndrome,Reticuloendotheliosis, Familial,Severe Combined Immune Deficiency,Severe Combined Immunodeficiency Syndrome,Severe Combined Immunologic Deficiency,Bare Lymphocyte Syndromes,Combined Immunodeficiencies, Severe,Combined Immunodeficiency, Severe,Familial Reticuloendothelioses,Familial Reticuloendotheliosis,Immunodeficiencies, Severe Combined,Lymphocyte Syndrome, Bare,Lymphocyte Syndromes, Bare,Omenns Syndrome,Reticuloendothelioses, Familial,Severe Combined Immunodeficiencies,Syndrome, Bare Lymphocyte,Syndrome, Omenn,Syndrome, Omenn's,Syndromes, Bare Lymphocyte
D017422	Sequence Analysis, DNA	A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.	DNA Sequence Analysis,Sequence Determination, DNA,Analysis, DNA Sequence,DNA Sequence Determination,DNA Sequence Determinations,DNA Sequencing,Determination, DNA Sequence,Determinations, DNA Sequence,Sequence Determinations, DNA,Analyses, DNA Sequence,DNA Sequence Analyses,Sequence Analyses, DNA,Sequencing, DNA
D053631	Interleukin Receptor Common gamma Subunit	An interleukin receptor subunit that was originally discovered as a component of the INTERLEUKIN 2 RECEPTOR. It was subsequently found to be a component of several other receptors including the INTERLEUKIN 4 RECEPTOR, the INTERLEUKIN 7 RECEPTOR, the INTERLEUKIN-9 RECEPTOR, the INTERLEUKIN-15 RECEPTOR, and the INTERLEUKIN-21 RECEPTOR. Mutations in the gene for the interleukin receptor common gamma chain have been associated with X-LINKED COMBINED IMMUNODEFICIENCY DISEASES.	Antigens, CD132,CD132 Antigens,Interleukin-15 Receptor gamma Subunit,Interleukin-2 Receptor gamma Subunit,Interleukin-21 Receptor gamma Subunit,Interleukin-4 Receptor gamma Subunit,Interleukin-7 Receptor gamma Subunit,Receptors, Interleukin Common gamma Chain,CD132 Antigen,Common Cytokine Receptor gamma Subunit,Common gamma-Chain Protein,Cytokine Receptor Common gamma Chain,Interleukin Receptor Common gamma-Chain,Interleukin-15 Receptor gamma Chain,Interleukin-2 Receptor gamma Chain,Interleukin-21 Receptor gamma Chain,Interleukin-4 Receptor gamma Chain,Interleukin-7 Receptor gamma Chain,Antigen, CD132,Common gamma Chain Protein,Interleukin 15 Receptor gamma Chain,Interleukin 15 Receptor gamma Subunit,Interleukin 2 Receptor gamma Chain,Interleukin 2 Receptor gamma Subunit,Interleukin 21 Receptor gamma Chain,Interleukin 21 Receptor gamma Subunit,Interleukin 4 Receptor gamma Chain,Interleukin 4 Receptor gamma Subunit,Interleukin 7 Receptor gamma Chain,Interleukin 7 Receptor gamma Subunit,Interleukin Receptor Common gamma Chain,gamma-Chain Protein, Common