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

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作者： Hanen,Ouadani ^[1] ; Imen,Ben-Mustapha ^[1] ; Meriem,Ben-ali ^[1] ; Leila,Ben-khemis ^[1] ; Beya,Larguèche ^[1] ; Raoudha,Boussoffara ^[2] ; Sonia,Maalej ^[3] ; Ilhem,Fetni ^[4] ; Saida,Hassayoun ^[5] ; Abdelmajid,Mahfoudh ^[6] ; Fethi,Mellouli ^[7] ; Sadok,Yalaoui ^[8] ; Hatem,Masmoudi ^[9] ; Mohamed,Bejaoui ^[7] ; Mohamed-Ridha,Barbouche ^[10]

作者单位： Laboratory of Transmission, Control and Immunobiology of Infection (LR11IPT02), Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia. ^[1] Department of Pediatrics, Tahar Sfar Hospital, Mahdia, Tunisia. ^[2] Department of Pneumology "D", Abderahman Mami Hospital, Ariana, Tunisia. ^[3] Department of Pediatrics, Mongi Slim Hospital, Marsa, Tunisia. ^[4] Department of Pediatrics, Sahloul Hospital, Sousse, Tunisia. ^[5] Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia. ^[6] Department of Pediatrics, Bone Marrow Transplantation Center, Tunis, Tunisia. ^[7] Laboratory of Biology, Abderahman Mami Hospital, Ariana, Tunisia. ^[8] Laboratory of Immunology, Habib Bourguiba Hospital, Sfax, Tunisia. ^[9] Laboratory of Transmission, Control and Immunobiology of Infection (LR11IPT02), Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia. ridha.barbouche@pasteur.rns.tn. ^[10]

关键词 Activation-induced cytidine deaminase CD40 CD40LG Class switch recombination Consanguinity Hyper IgM syndrome