Inherited IL-12p40 deficiency: Genetic, immunologic, and clinical features of 49 patients from 30 kindreds

Medicine (United States)

Volumn 92, Issue 2, 2013, Pages 109-122

  Prando, Carolina ^a   Samarina, Arina ^b,c   Bustamante, Jacinta ^b,c,d   Boisson Dupuis, Stéphanie ^a,b,c   Cobat, Aurelie ^e   Picard, Capucine ^b,c,d   Alsum, Zobaida ^f   Al Jumaah, Suliman ^g   Al Hajjar, Sami ^g   Frayha, Husn ^g   Al Mousa, Hamoud ^g   Ben Mustapha, Imen ⁱ   Adimi, Parisa ^j   Feinberg, Jacqueline ^b,c   De Suremain, Maylis ^b,c   Jannière, Lucile ^b,c   Filipe Santos, Orchidée ^b,c   Mansouri, Nahal ^j   Stephan, Jean Louis ^l   Nallusamy, Revathy ^m   Kumararatne, Dinakantha S ⁿ   Bloorsaz, Mohamad Reza ^k   Ben Ali, Meriem ⁱ   Elloumi Zghal, Houda ⁱ   Chemli, Jalel ^o   Bouguila, Jihene ^p   Bejaoui, Mohamed ^q   Alaki, Emadia ^h   Alfawaz, Tariq S ^r   Al Idrissi, Eman ^r   Elghazali, Gehad ^r   Pollard, Andrew J ^s   Murugasu, Belinda ^t   Wah Lee, Bee ^t   Halwani, Rabih ^f   Al Zahrani, Mohammed ^u   Al Shehri, Mohammed A ^r   Al Zahrani, Mofareh ^g,r   Bin Hussain, Ibrahim ^g   Mahdaviani, Seyed Alireza ^k   Parvaneh, Nima ^v   Abel, Laurent ^a,b   Mansouri, Davood ^j   Barbouche, Ridha ⁱ   Al Muhsen, Saleh ^f,g   Casanova, Jean Laurent ^a,c,d,f   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b IMAGINE INSTITUTE   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^f KING SAUD UNIVERSITY   (Saudi Arabia)

^g KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^h KING SAUD MEDICAL CITY   (Saudi Arabia)

ⁱ PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^j SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^k SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^l UNIVERSITÉ JEAN MONNET   (France)

^m PENANG MEDICAL COLLEGE   (Malaysia)

ⁿ ADDENBROOKE S HOSPITAL   (United Kingdom)

^o SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

^p FARHAT HACHED HOSPITAL   (Tunisia)

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

^r KING FAHAD MEDICAL CITY   (Saudi Arabia)

^s UNIVERSITY OF OXFORD   (United Kingdom)

^t NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^u SECURITY FORCES HOSPITAL   (Saudi Arabia)

^v TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BCG VACCINE; GAMMA INTERFERON; INTERLEUKIN 12P40; INTERLEUKIN 12P70;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BACTERIAL STRAIN; BCG VACCINATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENETIC VARIABILITY; HUMAN; IMMUNOLOGICAL PROCEDURES; INFANT; INTERLEUKIN 12 BETA GENE; INTERLEUKIN 12P40 DEFICIENCY; KLEBSIELLA INFECTION; MUCOCUTANEOUS CANDIDIASIS; MUTATIONAL ANALYSIS; MYCOBACTERIOSIS; NOCARDIOSIS; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SALMONELLOSIS; SCHOOL CHILD; STOP CODON;

ADOLESCENT; ADULT; AGE OF ONSET; ASIA, WESTERN; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INTERLEUKIN-12 SUBUNIT P40; MALE; MYCOBACTERIUM INFECTIONS, NONTUBERCULOUS; PENETRANCE; SALMONELLA INFECTIONS; SURVIVAL ANALYSIS; TUNISIA; YOUNG ADULT;

EID: 84874936500     PISSN: 00257974     EISSN: 15365964     Source Type: Journal    
DOI: 10.1097/MD.0b013e31828a01f9     Document Type: Article

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