These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Case Report: Reactive Lymphohistiocytic Proliferation in Infant With a Novel Nonsense Variant of Yahya AM; Al-Hammadi S; AlHashaykeh NO; Alkaabi SS; Elomami AS; AlMulla AA; Alremeithi MM; Kabbary RM; Vijayan R; Souid AK Front Pediatr; 2021; 9():713924. PubMed ID: 34796149 [TBL] [Abstract][Full Text] [Related]
7. Manifestations of cutaneous mycobacterial infections in patients with inborn errors of IL-12/IL-23-IFNγ immunity. Dolezalova K; Strachan T; Matej R; Ricna D; Bloomfield M Eur J Dermatol; 2022 Sep; 32(4):495-504. PubMed ID: 36069176 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 21905505 [TBL] [Abstract][Full Text] [Related]
9. Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature. Staines-Boone AT; Deswarte C; Venegas Montoya E; Sánchez-Sánchez LM; García Campos JA; Muñiz-Ronquillo T; Bustamante J; Espinosa-Rosales FJ; Lugo Reyes SO Front Pediatr; 2017; 5():75. PubMed ID: 28516082 [TBL] [Abstract][Full Text] [Related]
10. A Syrian Refugee in Iraq Diagnosed as a Case of IL12RB1 Deficiency in Japan Using Dried Blood Spots. Al-Kzayer LFY; Yassin AK; Salih KH; Shigemura T; Sano K; Al-Simaani RBY; Tanaka M; Nakazawa Y; Okuno Y Front Immunol; 2019; 10():58. PubMed ID: 30740107 [TBL] [Abstract][Full Text] [Related]
11. Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients. Mahdaviani SA; Mansouri D; Jamee M; Zaki-Dizaji M; Aghdam KR; Mortaz E; Khorasanizadeh M; Eskian M; Movahedi M; Ghaffaripour H; Baghaie N; Hassanzad M; Chavoshzadeh Z; Mansouri M; Mesdaghi M; Ghaini M; Noori F; Eskandarzadeh S; Kahkooi S; Poorabdolah M; Tabarsi P; Moniri A; Farnia P; Karimi A; Boisson-Dupuis S; Rezaei N; Marjani M; Casanova JL; Bustamante J; Velayati AA J Clin Immunol; 2020 Aug; 40(6):872-882. PubMed ID: 32602053 [TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 16418797 [TBL] [Abstract][Full Text] [Related]
13. Evaluation of interleukin-12 receptor β1 and interferon gamma receptor 1 deficiency in patients with disseminated BCG infection. Pourakbari B; Hosseinpour Sadeghi R; Mahmoudi S; Parvaneh N; Keshavarz Valian S; Mamishi S Allergol Immunopathol (Madr); 2019; 47(1):38-42. PubMed ID: 30268380 [TBL] [Abstract][Full Text] [Related]
14. Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India. Taur PD; Gowri V; Pandrowala AA; Iyengar VV; Chougule A; Golwala Z; Chandak S; Agarwal R; Keni P; Dighe N; Bodhanwala M; Prabhu S; George B; Fouzia NA; Edison ES; Arunachalam AK; Madkaikar MR; Dalvi AD; Yadav RM; Bargir UA; Kambli PM; Rawat A; Das J; Joshi V; Pilania RK; Jindal AK; Bhat S; Bhattad S; Unni J; Radhakrishnan N; Raj R; Uppuluri R; Patel S; Lashkari HP; Aggarwal A; Kalra M; Udwadia Z; Bafna VS; Kanade T; Puel A; Bustamante J; Casanova JL; Desai MM Front Immunol; 2021; 12():631298. PubMed ID: 33732252 [TBL] [Abstract][Full Text] [Related]
15. IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease. Khoshnevisan R; Nekooei-Marnany N; Klein C; Kotlarz D; Behnam M; Ostadi V; Yaran M; Rezaei A; Sherkat R J Clin Tuberc Other Mycobact Dis; 2019 Dec; 17():100123. PubMed ID: 31788565 [TBL] [Abstract][Full Text] [Related]
16. Patients with inhibitory and neutralizing auto-antibodies to interferon-γ resemble the sporadic adult-onset phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) lacking Bacille Calmette-Guerin (BCG)-induced diseases. Lee WI; Huang JL; Wu TS; Lee MH; Chen IJ; Yu KH; Liu CY; Yang CH; Hsieh MY; Lin YL; Shih YF; Jaing TH; Huang SC; Kuo TT; Ku CL Immunobiology; 2013 May; 218(5):762-71. PubMed ID: 23083630 [TBL] [Abstract][Full Text] [Related]
17. Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature. Sharifinejad N; Mahdaviani SA; Jamee M; Daneshmandi Z; Moniri A; Marjani M; Tabarsi P; Farnia P; Rekabi M; Fallahi M; Hashemimoghaddam SA; Mohkam M; Bustamante J; Casanova JL; Mansouri D; Velayati AA Pediatr Rheumatol Online J; 2021 Aug; 19(1):121. PubMed ID: 34389021 [TBL] [Abstract][Full Text] [Related]
18. Autosomal recessive Abdelmajeed O; Ali MMD; Erwa NH; Mustafa A; Ahmed YA; Ahmed RHA; Mohammed HHE; Hassan ME; Ahmed M; Algam S Front Immunol; 2023; 14():1135824. PubMed ID: 37063912 [TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Tan Ç; Çağdaş-Ayvaz D; Metin A; Keskin Ö; Tezcan İ; Sanal Ö Turk J Pediatr; 2016; 58(4):356-361. PubMed ID: 28276206 [TBL] [Abstract][Full Text] [Related]
20. Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease. Al-Hammadi S; Yahya AM; Al-Amri A; Shibli A; Balhaj GB; Tawil MI; Vijayan R; Souid AK Front Pediatr; 2021; 9():687538. PubMed ID: 34268280 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]