Diagnostic challenge in a series of eleven patients with hyper IgE syndromes

Autor: Roukaya Yaakoubi, Najla Mekki, Imen Ben-Mustapha, Leila Ben-Khemis, Asma Bouaziz, Ilhem Ben Fraj, Jamel Ammar, Agnès Hamzaoui, Hamida Turki, Lobna Boussofara, Mohamed Denguezli, Samir Haddad, Monia Ouederni, Mohamed Bejaoui, Koon Wing Chan, Yu Lung Lau, Fethi Mellouli, Mohamed-Ridha Barbouche, Meriem Ben-Ali

Publikováno v: Frontiers in Immunology, Vol 13 (2023)

Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE levels. Autosomal dominant HIES caused by loss of function muta

Externí odkaz: https://doaj.org/article/83b09f03da244315b6f98c74026a3c85

Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients

Autor: Rym Ouni, Leila Ben-Khemis, Chaouki Benabdessalem, Najla Mekki, Mohamed-Ridha Barbouche, Meriem Ben-Ali, Imen Ben-Mustapha, Roukaya Yaakoubi

Publikováno v: Journal of Allergy and Clinical Immunology
Journal of Allergy and Clinical Immunology, Elsevier, 2019, 143 (4), pp.1638-1640.e2. ⟨10.1016/j.jaci.2018.12.987⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ecc74fd11e70cada8b7513f31e9dff
https://pubmed.ncbi.nlm.nih.gov/30578875