Article
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Medicine - 1 Mar 2013
Prando Carolina, Samarina Arina, Bustamante Jacinta, Boisson-Dupuis Stéphanie, Cobat Aurelie, Picard Capucine, AlSum Zobaida, Al-Jumaah Suliman, Al-Hajjar Sami, Frayha Husn, Al-Mousa Hamoud, Ben-Mustapha Imen, Adimi Parisa, Feinberg Jacqueline, de Suremain Maylis, Jannière Lucile, Filipe-Santos Orchidée, Mansouri Nahal, Stephan Jean-Louis, Nallusamy Revathy, Kumararatne Dinakantha S, Bloorsaz Mohamad Reza, Ben-Ali Meriem, Elloumi-Zghal Houda, Chemli Jalel, Bouguila Jihene, Bejaoui Mohamed, Alaki Emadia, AlFawaz Tariq S, Al Idrissi Eman, ElGhazali Gehad, Pollard Andrew J, Murugasu Belinda, Wah Lee Bee, Halwani Rabih, Al-Zahrani Mohammed, Al Shehri Mohammed A, Al-Zahrani Mofareh, Bin-Hussain Ibrahim, Mahdaviani Seyed Alireza, Parvaneh Nima, Abel Laurent, Mansouri Davood, Barbouche Ridha, Al-Muhsen Saleh, Casanova Jean-Laurent
Abstract excerpt
Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small...
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