Article
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
Immunogenetics - 1 Jan 2016
Ouadani Hanen, Ben-Mustapha Imen, Ben-ali Meriem, Ben-khemis Leila, Larguèche Beya, Boussoffara Raoudha, Maalej Sonia, Fetni Ilhem, Hassayoun Saida, Mahfoudh Abdelmajid, Mellouli Fethi, Yalaoui Sadok, Masmoudi Hatem, Bejaoui Mohamed, Barbouche Mohamed-Ridha
Abstract excerpt
Immunoglobulin class switch recombination deficiencies (Ig-CSR-D) are characterized by normal or elevated serum IgM level and absence of IgG, IgA, and IgE. Most reported cases are due to X-linked CD40L deficiency. Activation-induced cytidine deaminase deficiency is the most frequent autosomal recessive form, whereas CD40 deficiency is more rare. Herein, we present the first North African study on hyper IgM (HIGM)...
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