Biomaterial Database

Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation. 2013

Anilkumar Katta, and Julie Hong, and Alan P Knutsen

UI	MeSH Term	Description	Entries
D008297	Male		Males
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
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
D053307	Hyper-IgM Immunodeficiency Syndrome, Type 1	An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.	HIGM1,HIGM1 Syndrome,Hyper-IgM Immunodeficiency, X-Linked,Hyper-IgM Syndrome 1,Immunodeficiency with Hyper-IgM, Type 1,X-Linked Hyper IgM Syndrome,HIGM1 Syndromes,Hyper IgM Immunodeficiency Syndrome, Type 1,Hyper IgM Immunodeficiency, X Linked,Hyper IgM Syndrome 1,Hyper-IgM Immunodeficiencies, X-Linked,Immunodeficiencies, X-Linked Hyper-IgM,Immunodeficiency with Hyper IgM, Type 1,Immunodeficiency, X-Linked Hyper-IgM,X Linked Hyper IgM Syndrome,X-Linked Hyper-IgM Immunodeficiencies,X-Linked Hyper-IgM Immunodeficiency
D020125	Mutation, Missense	A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)	Missense Mutation,Missense Mutations,Mutations, Missense
D023201	CD40 Ligand	A membrane glycoprotein and differentiation antigen expressed on the surface of T-cells that binds to CD40 ANTIGENS on B-LYMPHOCYTES and induces their proliferation. Mutation of the gene for CD40 ligand is a cause of HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1.	Antigens, CD154,CD154 Antigens,Tumor Necrosis Factor Ligand Superfamily Member 5,Antigen, CD154,CD154 Antigen,CD40L,T-B Cell Activating Molecule,TNF Superfamily, Member 5,gp39 Antigen, T-Cell,T-Cell gp39 Antigen,gp39 Antigen, T Cell