A new CD154 mutation

Allergy: European Journal of Allergy and Clinical Immunology

Volumn 56, Issue 12, 2001, Pages 1230-1231

  Serra, H M ^a   Baena Cagnani, C E ^a   Mariani, A L ^a   Martin, A ^a   Garip, E A ^a   Pesoa, S A ^a  

^a Respiratory Centre   (Argentina)

Author keywords

CD154; Hyper IgM; Mutation; X linked immunodeficiency

Indexed keywords

ANTIBIOTIC AGENT; ANTIGEN; CD40 LIGAND; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN; IMMUNOGLOBULIN M; UNCLASSIFIED DRUG;

APLASTIC ANEMIA; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIARRHEA; DISEASE COURSE; FEVER; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERIMMUNOGLOBULINEMIA; HYPERIMMUNOGLOBULINEMIA M; IMMUNE DEFICIENCY; LIVER DISEASE; LYMPHADENOPATHY; MALABSORPTION; MALE; MOUTH ULCER; NEUTROPENIA; PRIORITY JOURNAL; SCLEROSING CHOLANGITIS; UPPER RESPIRATORY TRACT INFECTION; X CHROMOSOME LINKED DISORDER;

CD40 LIGAND; CHILD; DNA; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; X CHROMOSOME;

EID: 0035185779     PISSN: 01054538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1398-9995.2001x.00146.x     Document Type: Article

References (7)

1. CD40Lbase: A database of CD40L gene mutations causing X-linked hyper-IgM syndrome
2. Correction of the hyper-IgM syndrome after liver and bone marrow transplantation
3. The random inactivation of the X chromosome carrying the defective gene responsible For X-linked hyper-IgM syndrome (X-HIM) in female carriers of HIGMI
4. CD40 ligand expression and B cell function in gammaglobulinemia with normal or elevated levels of IgM. Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers
5. CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM
6. A single strand conformation polymorphism study of CD40
7. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase