215 related articles for article (PubMed ID: 22424479)
1. Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
Kutukculer N; Gulez N; Karaca NE; Aksu G; Berdeli A
Ital J Pediatr; 2012 Mar; 38():8. PubMed ID: 22424479
[TBL] [Abstract][Full Text] [Related]
2. [Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].
Yu G; Wang WJ; Liu DR; Tao ZF; Hui XY; Hou J; Sun JQ; Wang XC
Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):186-191. PubMed ID: 29518828
[No Abstract] [Full Text] [Related]
3. Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.
Pasic S; Djuricic S; Ristic G; Slavkovic B
Acta Paediatr; 2009 Jun; 98(6):1062-4. PubMed ID: 19243569
[TBL] [Abstract][Full Text] [Related]
4. Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Meshaal SS; El Hawary RE; Abd Elaziz DS; Eldash A; Alkady R; Lotfy S; Mauracher AA; Opitz L; Pachlopnik Schmid J; van der Burg M; Chou J; Galal NM; Boutros JA; Geha R; Elmarsafy AM
Clin Exp Immunol; 2019 Feb; 195(2):202-212. PubMed ID: 30307608
[TBL] [Abstract][Full Text] [Related]
5. Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
Alsmadi O; Al-Ghonaium A; Al-Muhsen S; Arnaout R; Al-Dhekri H; Al-Saud B; Al-Kayal F; Al-Saud H; Al-Mousa H
BMC Med Genet; 2009 Nov; 10():116. PubMed ID: 19912631
[TBL] [Abstract][Full Text] [Related]
6. Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.
Ulusoy E; Karaca NE; Azarsiz E; Berdeli A; Aksu G; Kutukculer N
J Clin Med Res; 2016 May; 8(5):379-84. PubMed ID: 27081423
[TBL] [Abstract][Full Text] [Related]
7. More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.
Niehues T; Perez-Becker R; Schuetz C
Clin Immunol; 2010 May; 135(2):183-92. PubMed ID: 20172764
[TBL] [Abstract][Full Text] [Related]
8. Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
IJspeert H; Driessen GJ; Moorhouse MJ; Hartwig NG; Wolska-Kusnierz B; Kalwak K; Pituch-Noworolska A; Kondratenko I; van Montfrans JM; Mejstrikova E; Lankester AC; Langerak AW; van Gent DC; Stubbs AP; van Dongen JJ; van der Burg M
J Allergy Clin Immunol; 2014 Apr; 133(4):1124-33. PubMed ID: 24418478
[TBL] [Abstract][Full Text] [Related]
9. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A; Sobacchi C; Notarangelo LD; Bozzi F; Abinun M; Abrahamsen TG; Arkwright PD; Baniyash M; Brooks EG; Conley ME; Cortes P; Duse M; Fasth A; Filipovich AM; Infante AJ; Jones A; Mazzolari E; Muller SM; Pasic S; Rechavi G; Sacco MG; Santagata S; Schroeder ML; Seger R; Strina D; Ugazio A; Väliaho J; Vihinen M; Vogler LB; Ochs H; Vezzoni P; Friedrich W; Schwarz K
Blood; 2001 Jan; 97(1):81-8. PubMed ID: 11133745
[TBL] [Abstract][Full Text] [Related]
10. GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
Haq IJ; Steinberg LJ; Hoenig M; van der Burg M; Villa A; Cant AJ; Middleton PG; Gennery AR
Clin Immunol; 2007 Aug; 124(2):165-9. PubMed ID: 17572155
[TBL] [Abstract][Full Text] [Related]
11. Novel RAG1 mutation and the occurrence of mycobacterial and Chromobacterium violaceum infections in a case of leaky SCID.
Khan TA; Iqbal A; Rahman H; Cabral-Marques O; Ishfaq M; Muhammad N
Microb Pathog; 2017 Aug; 109():114-119. PubMed ID: 28552805
[TBL] [Abstract][Full Text] [Related]
12. Three faces of recombination activating gene 1 (RAG1) mutations.
Patiroglu T; Akar HH; Van Der Burg M
Acta Microbiol Immunol Hung; 2015 Dec; 62(4):393-401. PubMed ID: 26689875
[TBL] [Abstract][Full Text] [Related]
13. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN; Frugoni F; Dobbs K; Walter JE; Giliani S; Gennery AR; Al-Herz W; Haddad E; LeDeist F; Bleesing JH; Henderson LA; Pai SY; Nelson RP; El-Ghoneimy DH; El-Feky RA; Reda SM; Hossny E; Soler-Palacin P; Fuleihan RL; Patel NC; Massaad MJ; Geha RS; Puck JM; Palma P; Cancrini C; Chen K; Vihinen M; Alt FW; Notarangelo LD
J Allergy Clin Immunol; 2014 Apr; 133(4):1099-108. PubMed ID: 24290284
[TBL] [Abstract][Full Text] [Related]
14. Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.
Shahbazi Z; Yazdani R; Shahkarami S; Shahbazi S; Hamid M; Sadeghi-Shabestari M; Momen T; Aleyasin S; Esmaeilzadeh H; Darougar S; Delavari S; Mahdaviani SA; Ahanchian H; Behmanesh F; Kiaee F; Chavoshzade Z; Shariat M; Keramatipour M; Rezaei N; Abolhassani H; Parvaneh N; Mahdian R; Aghamohammadi A
Immunol Lett; 2019 Dec; 216():70-78. PubMed ID: 31589898
[TBL] [Abstract][Full Text] [Related]
15. Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.
Bai X; Liu J; Zhang Z; Liu C; Zhang Y; Tang W; Dai R; Wu J; Tang X; Zhang Y; Ding Y; Jiang L; Zhao X
Immunol Res; 2016 Apr; 64(2):497-507. PubMed ID: 26476733
[TBL] [Abstract][Full Text] [Related]
16. A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.
Greenberg-Kushnir N; Lee YN; Simon AJ; Lev A; Marcus N; Abuzaitoun O; Somech R; Stauber T
J Clin Immunol; 2020 Jan; 40(1):211-222. PubMed ID: 31838659
[TBL] [Abstract][Full Text] [Related]
17. Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease.
Sadeghi-Shabestari M; Vesal S; Jabbarpour-Bonyadi M; de Villatay JP; Fischer A; Rezaei N
J Investig Allergol Clin Immunol; 2009; 19(6):494-6. PubMed ID: 20128425
[TBL] [Abstract][Full Text] [Related]
18. [Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period].
Hoyos-Bachiloglu R; Rojas J; Borzutzky A; Hernández P; Vinet AM; Bustos P; Fernández F; Lagos M; Strickler A; Marinovic MA; Casado C; Poli MC; King A
Rev Chil Pediatr; 2020 Dec; 91(6):908-916. PubMed ID: 33861827
[TBL] [Abstract][Full Text] [Related]
19. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
Gennery AR; Slatter MA; Rice J; Hoefsloot LH; Barge D; McLean-Tooke A; Montgomery T; Goodship JA; Burt AD; Flood TJ; Abinun M; Cant AJ; Johnson D
Clin Exp Immunol; 2008 Jul; 153(1):75-80. PubMed ID: 18505430
[TBL] [Abstract][Full Text] [Related]
20. Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.
Mou W; Yang Z; Wang X; Hei M; Wang Y; Gui J
Immunogenetics; 2023 Aug; 75(4):385-393. PubMed ID: 37269334
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
