Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males

Haematologica

Volumn 92, Issue 2, 2007, Pages 281-282

  Erdos, Melinda ^a   Alapi, Krisztina ^a   Maródi, László ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

Author keywords

CD40 ligand; Hyper Igm syndrome; Mutational analysis

Indexed keywords

CD40 LIGAND; GENOMIC DNA; NUCLEOTIDE; CD40 ANTIGEN;

ADULT; ANAMNESIS; ARTICLE; BLOOD SAMPLING; CASE REPORT; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPERIMMUNOGLOBULINEMIA M; IMMUNE DEFICIENCY; MORTALITY; NUCLEOTIDE SEQUENCE; PHENOTYPE; RETROSPECTIVE STUDY; X CHROMOSOME LINKED DISORDER; AGED; AMINO ACID SEQUENCE; BIOSYNTHESIS; CHILD; DIFFERENTIAL DIAGNOSIS; GENETIC LINKAGE; GENETICS; INFANT; LETTER; MALE; MOLECULAR GENETICS; PEDIGREE; X CHROMOSOME;

ADULT; AGED; AMINO ACID SEQUENCE; ANTIGENS, CD40; CHILD; CHROMOSOMES, HUMAN, X; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; INFANT; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; RETROSPECTIVE STUDIES;

EID: 33947511293     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.10172     Document Type: Article

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