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Items: 1 to 20 of 145

1.

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, Dupuis S, Soudais C, Al-Mohsen IZ, Génin E, Lammas D, Kumararatne DS, Leclerc T, Rafii A, Frayha H, Murugasu B, Wah LB, Sinniah R, Loubser M, Okamoto E, Al-Ghonaium A, Tufenkeji H, Abel L, Casanova JL.

Am J Hum Genet. 2002 Feb;70(2):336-48.

2.

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

Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Alangari A, Al-Mousa H, Mobaireek KF, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL.

Medicine (Baltimore). 2013 Mar;92(2):109-22. doi: 10.1097/MD.0b013e31828a01f9. Erratum in: Medicine (Baltimore). 2013 May;92(3):190. Alangari, Abdullah A [added]; Mobaireek, Khalid F [added].

3.

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.

Altare F, Lammas D, Revy P, Jouanguy E, Döffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS.

J Clin Invest. 1998 Dec 15;102(12):2035-40.

4.

A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.

Ben-Mustapha I, Ben-Ali M, Mekki N, Patin E, Harmant C, Bouguila J, Elloumi-Zghal H, Harbi A, Béjaoui M, Boughammoura L, Chemli J, Barbouche MR.

Immunogenetics. 2014 Jan;66(1):67-71. doi: 10.1007/s00251-013-0739-0.

PMID:
24127073
5.

Recessive cornea plana in the Kingdom of Saudi Arabia.

Khan AO, Aldahmesh M, Meyer B.

Ophthalmology. 2006 Oct;113(10):1773-8.

PMID:
17011957
6.

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection.

Elloumi-Zghal H, Barbouche MR, Chemli J, Béjaoui M, Harbi A, Snoussi N, Abdelhak S, Dellagi K.

J Infect Dis. 2002 May 15;185(10):1468-75.

PMID:
11992283
7.

Identification of missense mutation in the IL12B gene: lack of association between IL12B polymorphisms and asthma and allergic rhinitis in the Japanese population.

Noguchi E, Yokouchi Y, Shibasaki M, Kamioka M, Yamakawa-Kobayashi K, Matsui A, Arinami T.

Genes Immun. 2001 Nov;2(7):401-3.

8.

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

Pedraza-Sánchez S, Herrera-Barrios MT, Aldana-Vergara R, Neumann-Ordoñez M, González-Hernández Y, Sada-Díaz E, de Beaucoudrey L, Casanova JL, Torres-Rojas M.

Int J Infect Dis. 2010 Sep;14 Suppl 3:e256-60. doi: 10.1016/j.ijid.2009.11.005.

9.

Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency.

Lichtenauer-Kaligis EG, de Boer T, Verreck FA, van Voorden S, Hoeve MA, van de Vosse E, Ersoy F, Tezcan I, van Dissel JT, Sanal O, Ottenhoff TH.

Eur J Immunol. 2003 Jan;33(1):59-69.

10.

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.

Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondanèche MC, Tuerlinckx D, Blanche S, Emile JF, Gaillard JL, Schreiber R, Levin M, Fischer A, Hivroz C, Casanova JL.

J Clin Invest. 1997 Dec 1;100(11):2658-64.

11.

Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections.

Sanal O, Turul T, De Boer T, Van de Vosse E, Yalcin I, Tezcan I, Sun C, Memis L, Ottenhoff TH, Ersoy F.

J Clin Immunol. 2006 Jan;26(1):1-6.

PMID:
16418797
12.

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

Caragol I, Raspall M, Fieschi C, Feinberg J, Larrosa MN, Hernández M, Figueras C, Bertrán JM, Casanova JL, Español T.

Clin Infect Dis. 2003 Jul 15;37(2):302-6.

PMID:
12856223
13.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

Waldmüller S, Sakthivel S, Saadi AV, Selignow C, Rakesh PG, Golubenko M, Joseph PK, Padmakumar R, Richard P, Schwartz K, Tharakan JM, Rajamanickam C, Vosberg HP.

J Mol Cell Cardiol. 2003 Jun;35(6):623-36.

PMID:
12788380
14.

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE.

J Med Genet. 2003 Feb;40(2):115-21.

15.

Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.

Döffinger R, Dupuis S, Picard C, Fieschi C, Feinberg J, Barcenas-Morales G, Casanova JL.

Mol Immunol. 2002 May;38(12-13):903-9.

PMID:
12009568
16.

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.

Mansouri D, Adimi P, Mirsaeidi M, Mansouri N, Khalilzadeh S, Masjedi MR, Adimi P, Tabarsi P, Naderi M, Filipe-Santos O, Vogt G, de Beaucoudrey L, Bustamante J, Chapgier A, Feinberg J, Velayati AA, Casanova JL.

Eur J Pediatr. 2005 Dec;164(12):753-7.

PMID:
16091917
17.
18.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
19.

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Sologuren I, Boisson-Dupuis S, Pestano J, Vincent QB, Fernández-Pérez L, Chapgier A, Cárdenes M, Feinberg J, García-Laorden MI, Picard C, Santiago E, Kong X, Jannière L, Colino E, Herrera-Ramos E, Francés A, Navarrete C, Blanche S, Faria E, Remiszewski P, Cordeiro A, Freeman A, Holland S, Abarca K, Valerón-Lemaur M, Gonçalo-Marques J, Silveira L, García-Castellano JM, Caminero J, Pérez-Arellano JL, Bustamante J, Abel L, Casanova JL, Rodríguez-Gallego C.

Hum Mol Genet. 2011 Apr 15;20(8):1509-23. doi: 10.1093/hmg/ddr029.

20.

IL12B and IRF1 gene polymorphisms and susceptibility to celiac disease.

Seegers D, Borm ME, van Belzen MJ, Mulder CJ, Bailing J, Crusius JB, Meijer JW, Wijmenga C, Peña AS, Bouma G.

Eur J Immunogenet. 2003 Dec;30(6):421-5.

PMID:
14675396

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