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Items: 1 to 20 of 100

1.

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

Ouederni M, Sanal O, Ikinciogullari A, Tezcan I, Dogu F, Sologuren I, Pedraza-Sánchez S, Keser M, Tanir G, Nieuwhof C, Colino E, Kumararatne D, Levy J, Kutukculer N, Aytekin C, Herrera-Ramos E, Bhatti M, Karaca N, Barbouche R, Broides A, Goudouris E, Franco JL, Parvaneh N, Reisli I, Strickler A, Shcherbina A, Somer A, Segal A, Angel-Moreno A, Lezana-Fernandez JL, Bejaoui M, Bobadilla-Del Valle M, Kachboura S, Sentongo T, Ben-Mustapha I, Bustamante J, Picard C, Puel A, Boisson-Dupuis S, Abel L, Casanova JL, Rodríguez-Gallego C.

Clin Infect Dis. 2014 Jan;58(2):204-13. doi: 10.1093/cid/cit722. Epub 2013 Nov 1.

2.

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832.

3.

Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.

Aytekin C, Dogu F, Tuygun N, Tanir G, Guloglu D, Boisson-Dupuis S, Bustamante J, Feinberg J, Casanova JL, Ikinciogullari A.

J Investig Allergol Clin Immunol. 2011;21(5):401-4.

4.

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.

Hatipoglu N, Güvenç BH, Deswarte C, Koksalan K, Boisson-Dupuis S, Casanova JL, Bustamante J.

Pediatrics. 2017 Nov;140(5). pii: e20161668. doi: 10.1542/peds.2016-1668. Epub 2017 Oct 12.

PMID:
29025965
5.

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].

6.

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.

Pedraza S, Lezana JL, Samarina A, Aldana R, Herrera MT, Boisson-Dupuis S, Bustamante J, Pages P, Casanova JL, Picard C.

Pediatrics. 2010 Oct;126(4):e971-6. doi: 10.1542/peds.2009-2504. Epub 2010 Sep 20.

7.

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.

8.

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le Deist F, Kayal S, Koch H, Richter D, Brezina M, Aksu G, Wood P, Al-Jumaah S, Raspall M, Da Silva Duarte AJ, Tuerlinckx D, Virelizier JL, Fischer A, Enright A, Bernhöft J, Cleary AM, Vermylen C, Rodriguez-Gallego C, Davies G, Blütters-Sawatzki R, Siegrist CA, Ehlayel MS, Novelli V, Haas WH, Levy J, Freihorst J, Al-Hajjar S, Nadal D, De Moraes Vasconcelos D, Jeppsson O, Kutukculer N, Frecerova K, Caragol I, Lammas D, Kumararatne DS, Abel L, Casanova JL.

J Exp Med. 2003 Feb 17;197(4):527-35.

9.

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. Epub 2003 Jul 7.

PMID:
12856223
10.

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression.

Louvain de Souza T, de Souza Campos Fernandes RC, Azevedo da Silva J, Gomes Alves Júnior V, Gomes Coelho A, Souza Faria AC, Moreira Salomão Simão NM, Souto Filho JT, Deswarte C, Boisson-Dupuis S, Torgerson D, Casanova JL, Bustamante J, Medina-Acosta E.

Front Microbiol. 2017 Apr 13;8:616. doi: 10.3389/fmicb.2017.00616. eCollection 2017.

11.

Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele.

Lee WI, Huang JL, Lin TY, Hsueh C, Wong AM, Hsieh MY, Chiu CH, Jaing TH.

J Clin Immunol. 2009 Mar;29(2):238-45. doi: 10.1007/s10875-008-9253-9. Epub 2008 Oct 1.

PMID:
18972195
12.

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.

13.

Esophageal candidiasis in pediatric acquired immunodeficiency syndrome: clinical manifestations and risk factors.

Chiou CC, Groll AH, Gonzalez CE, Callender D, Venzon D, Pizzo PA, Wood L, Walsh TJ.

Pediatr Infect Dis J. 2000 Aug;19(8):729-34.

PMID:
10959741
14.

Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.

Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi JE, Fischer A, Emile JF, Gaillard JL, Meinl E, Casanova JL.

J Infect Dis. 2001 Jul 15;184(2):231-6. Epub 2001 Jun 14.

PMID:
11424023
15.

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. Epub 2010 Feb 19.

16.

Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection.

Staretz-Haham O, Melamed R, Lifshitz M, Porat N, Fieschi C, Casanova JL, Levy J.

Clin Infect Dis. 2003 Jul 1;37(1):137-40. Epub 2003 Jun 24.

PMID:
12830418
17.

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. Epub 2001 Dec 17.

18.

Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta1 deficiency.

van de Vosse E, Ottenhoff TH, de Paus RA, Verhard EM, de Boer T, van Dissel JT, Kuijpers TW.

Infection. 2010 Apr;38(2):128-30. doi: 10.1007/s15010-009-9222-0. Epub 2010 Mar 5.

PMID:
20213287
19.

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.

Boisson-Dupuis S, El Baghdadi J, Parvaneh N, Bousfiha A, Bustamante J, Feinberg J, Samarina A, Grant AV, Janniere L, El Hafidi N, Hassani A, Nolan D, Najib J, Camcioglu Y, Hatipoglu N, Aydogmus C, Tanir G, Aytekin C, Keser M, Somer A, Aksu G, Kutukculer N, Mansouri D, Mahdaviani A, Mamishi S, Alcais A, Abel L, Casanova JL.

PLoS One. 2011 Apr 13;6(4):e18524. doi: 10.1371/journal.pone.0018524.

20.

Interferon-gamma and interleukin-12 pathway defects and human disease.

Dorman SE, Holland SM.

Cytokine Growth Factor Rev. 2000 Dec;11(4):321-33. Review.

PMID:
10959079

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