Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation

Human Molecular Genetics

Volumn 20, Issue 9, 2011, Pages 1854-1863

  van Zelm, Menno C ^a   Smet, Julie ^b   van der Burg, Mirjam ^a   Ferster, Alina ^c   Le, Phu Quoc ^c   Schandené, Liliane ^b   van Dongen, Jacques J M ^a   Mascart, Françoise ^b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ERASME HOSPITAL   (Belgium)

^c UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CD19 ANTIBODY; CYSTEINE; IMMUNOGLOBULIN; IMMUNOGLOBULIN M; TETANUS TOXOID; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ANTIBODY RESPONSE; ARTICLE; B LYMPHOCYTE; CALCIUM TRANSPORT; CASE REPORT; CHILD; CONTROLLED STUDY; GENE REARRANGEMENT; GLYCOSYLATION; HUMAN; IMMUNOGLOBULIN DEFICIENCY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STABILITY; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SEQUENCE ANALYSIS; VACCINATION; WESTERN BLOTTING;

AMINO ACID SEQUENCE; ANTIGENS, CD19; CASE-CONTROL STUDIES; CHILD; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; T-LYMPHOCYTES; TRYPTOPHAN;

EUKARYOTA; MAMMALIA; PROKARYOTA;

EID: 79954551086     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr068     Document Type: Article

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