Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients

Immunogenetics

Volumn 68, Issue 1, 2016, Pages 19-28

  Ouadani, Hanen ^a   Ben Mustapha, Imen ^a   Ben ali, Meriem ^a   Ben khemis, Leila ^a   Larguèche, Beya ^a   Boussoffara, Raoudha ^b   Maalej, Sonia ^c   Fetni, Ilhem ^d   Hassayoun, Saida ^e   Mahfoudh, Abdelmajid ^f   Mellouli, Fethi ^g   Yalaoui, Sadok ^c   Masmoudi, Hatem ^h   Bejaoui, Mohamed ^g   Barbouche, Mohamed Ridha ^a  

^a UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^b Tahar Sfar University Hospital   (Tunisia)

^c ABDERRAHMAN MAMI HOSPITAL   (Tunisia)

^d MONGI SLIM HOSPITAL   (Tunisia)

^e SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

^f HEDI CHAKER HOSPITAL   (Tunisia)

^g CENTRE NATIONAL DE GREFFE DE MOELLE OSSEUSE   (Tunisia)

^h HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

Activation induced cytidine deaminase; CD40; CD40LG; Class switch recombination; Consanguinity; Hyper IgM syndrome

Indexed keywords

AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE); CD40 ANTIGEN; CD40 LIGAND; CYTIDINE DEAMINASE;

ADOLESCENT; CHILD; CONSANGUINITY; DEFICIENCY; FEMALE; GENETICS; HUMAN; HYPER IGM SYNDROME; IMMUNOLOGY; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; RECESSIVE GENE; TUNISIA; YOUNG ADULT;

ADOLESCENT; ANTIGENS, CD40; BASE SEQUENCE; CD40 LIGAND; CHILD; CONSANGUINITY; CYTIDINE DEAMINASE; FEMALE; GENES, RECESSIVE; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; TUNISIA; YOUNG ADULT;

EID: 84953353021     PISSN: 00937711     EISSN: 14321211     Source Type: Journal    
DOI: 10.1007/s00251-015-0878-6     Document Type: Article

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