Discordant phenotype in siblings with X-linked agammaglobulinemia

American Journal of Human Genetics

Volumn 58, Issue 3, 1996, Pages 477-483

  Bykowsky, Michael J ^a   Haire, Robert N ^b   Ohta, Yuko ^b   Tang, Huayang ^c   Sung, Sun Sang J ^c   Veksler, Ekaterina S ^a   Greene, Jeffrey M ^a   Fu, Shu Man ^c   Litman, Gary W ^b   Sullivan, Kathleen E ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

^c UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ANTIBODY PRODUCTION; ARTICLE; B LYMPHOCYTE; CASE REPORT; CHILD; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; X LINKED AGAMMAGLOBULINEMIA;

RAPHIA FRATER; SAMBUCUS NIGRA CANADENSIS;

EID: 19144365482     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Aoki Y, Isselbacher KJ, Pillai S (1994) Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor ligated B cells. Proc Natl Acad Sci USA 91:10606-10609
2. Bradley LAD, Sweatman AK, Lovering RC, Jones AM, Morgan G, Levinsky RJ, Kinnin C (1994) Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Hum Mol Genet 3:79-83
3. Bruton OC (1952) Agammaglobulinemia. Pediatrics 9:722-727
4. Buckley RH, Sidbury JB (1968) Hereditary alterations in the immune response: coexistence of agammaglobulinemia, acquired hypogammaglobulinemia and selective immunoglobulin deficiency in a sibship. Pediatr Res 2:72-84
5. Cheng C, Ye Z-S, Baltimore D (1994) Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction. Proc Natl Acad Sci USA 91:8152-8155