Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome

Human Mutation

Volumn 8, Issue 3, 1996, Pages 223-228

  Katz, Fay ^a   Hinshelwood, Steve ^a   Rutland, Paul ^a   Jones, Alison ^a   Kinnon, Christine ^a   Morgan, Gareth ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

CD40L deficiency; Primary immunodeficiency; X linked hypogammaglobulinemia with hyper IgM syndrome

Indexed keywords

CD40 ANTIGEN; IMMUNOGLOBULIN M;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DELETION MUTANT; GENE DELETION; GENE INSERTION; GENETIC RISK; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGAMMAGLOBULINEMIA; IMMUNOGLOBULIN PRODUCTION; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; ANTIGENS, CD40; CD40 LIGAND; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE DETECTION; HUMANS; IMMUNOGLOBULIN M; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; X CHROMOSOME;

EID: 0029842782     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<223::AID-HUMU5>3.0.CO;2-A     Document Type: Article

References (5)

1. Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK, Fanslow WC, Belmont J, Spriggs MK (1993) CD40 ligand gene defects responsible for X-linked hyper IgM syndrome. Science 259:990-993.
2. Aruffo A, Farrington M, Hollenbaugh D, Xu L, Milatovich A, Nonoyama S, Bajorath J, Grosmaire LS, Stenkamp R, Neubauer M, Roberts RL, Noelle RJ, Ledbetter JA, Francke U, Ochs HD (1993) The CD40 ligand, gp39, is defective in ac-tivated T cells from patients with X-linked hyper-IgM syndrome. Cell 72:291-300.
3. Banatvala N, Davies J, Kanariou M, Strobel S, Levinsky R, Morgan, G (1994) Hypogammaglobulinemia associated with normal or increased IgM: (the hyper IgM syndrome): A case series review. Arch Dis Child 71:150-152.
4. Bradley LAD, Sweatman AK, Levering RC, Jones AM, Morgan, G, Levinsky RJ, Kinnon C (1994) Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Hum Mol Genet 3:79-83.
5. Callard RE, Smith SH, Herbert J, Morgan G, Padayachee M, Lederman S, Chess L, Kroczek RA, Fanslow WC, Armitage RJ (1994) CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM. J Immunol 153:3295-3306.