213 related articles for article (PubMed ID: 22424479)
21. Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.
Pasic S; Vujic D; Veljković D; Slavkovic B; Mostarica-Stojkovic M; Minic P; Minic A; Ristic G; Giliani S; Villa A; Sobacchi C; Lilić D; Abinun M
J Clin Immunol; 2014 Apr; 34(3):304-8. PubMed ID: 24481607
[TBL] [Abstract][Full Text] [Related]
22. Mutational landscape of severe combined immunodeficiency patients from Turkey.
Firtina S; Yin Ng Y; Hatirnaz Ng O; Kiykim A; Aydiner E; Nepesov S; Camcioglu Y; Sayar EH; Reisli I; Torun SH; Cogurlu T; Uygun D; Simsek IE; Kaya A; Cipe F; Cagdas D; Yucel E; Cekic S; Uygun V; Baris S; Ozen A; Ozbek U; Sayitoglu M
Int J Immunogenet; 2020 Dec; 47(6):529-538. PubMed ID: 32445296
[TBL] [Abstract][Full Text] [Related]
23. Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.
Stepensky P; Keller B; Shamriz O; NaserEddin A; Rumman N; Weintraub M; Warnatz K; Elpeleg O; Barak Y
Clin Immunol; 2016 Feb; 163():91-5. PubMed ID: 26769277
[TBL] [Abstract][Full Text] [Related]
24. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.
Schuetz C; Neven B; Dvorak CC; Leroy S; Ege MJ; Pannicke U; Schwarz K; Schulz AS; Hoenig M; Sparber-Sauer M; Gatz SA; Denzer C; Blanche S; Moshous D; Picard C; Horn BN; de Villartay JP; Cavazzana M; Debatin KM; Friedrich W; Fischer A; Cowan MJ
Blood; 2014 Jan; 123(2):281-9. PubMed ID: 24144642
[TBL] [Abstract][Full Text] [Related]
25. Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD; Kim MS; Walter JE; Lee YN
Nat Rev Immunol; 2016 Apr; 16(4):234-46. PubMed ID: 26996199
[TBL] [Abstract][Full Text] [Related]
26. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
Corneo B; Moshous D; Güngör T; Wulffraat N; Philippet P; Le Deist FL; Fischer A; de Villartay JP
Blood; 2001 May; 97(9):2772-6. PubMed ID: 11313270
[TBL] [Abstract][Full Text] [Related]
27. Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
Wada T; Takei K; Kudo M; Shimura S; Kasahara Y; Koizumi S; Kawa-Ha K; Ishida Y; Imashuku S; Seki H; Yachie A
Clin Exp Immunol; 2000 Jan; 119(1):148-55. PubMed ID: 10606976
[TBL] [Abstract][Full Text] [Related]
28. Disseminated bacille Calmette-Guérin in Iranian children with severe combined immunodeficiency.
Sadeghi-Shabestari M; Rezaei N
Int J Infect Dis; 2009 Nov; 13(6):e420-3. PubMed ID: 19403320
[TBL] [Abstract][Full Text] [Related]
29. Whole-exome sequencing of T
El Hawary R; Meshaal S; Mauracher AA; Opitz L; Abd Elaziz D; Lotfy S; Eldash A; Boutros J; Galal N; Pachlopnik Schmid J; Elmarsafy A
Clin Exp Immunol; 2021 Mar; 203(3):448-457. PubMed ID: 33040328
[TBL] [Abstract][Full Text] [Related]
30. Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.
Karaca NE; Aksu G; Genel F; Gulez N; Can S; Aydinok Y; Aksoylar S; Karaca E; Altuglu I; Kutukculer N
Clin Exp Med; 2009 Dec; 9(4):339-42. PubMed ID: 19458910
[TBL] [Abstract][Full Text] [Related]
31. Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience.
Benhsaien I; Ailal F; El Bakkouri J; Jeddane L; Ouair H; Admou B; Bouskraoui M; Hbibi M; Hida M; Amenzoui N; Jouhadi Z; El Hafidi N; Rada N; Benajiba N; Abilkassem R; Badou A; Bousfiha AA
J Clin Immunol; 2021 Apr; 41(3):631-638. PubMed ID: 33411152
[TBL] [Abstract][Full Text] [Related]
32. Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.
Villa A; Sobacchi C; Vezzoni P
Isr Med Assoc J; 2002 Mar; 4(3):218-21. PubMed ID: 11908269
[TBL] [Abstract][Full Text] [Related]
33. Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
Tabori U; Mark Z; Amariglio N; Etzioni A; Golan H; Biloray B; Toren A; Rechavi G; Dalal I
Clin Genet; 2004 Apr; 65(4):322-6. PubMed ID: 15025726
[TBL] [Abstract][Full Text] [Related]
34. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
de Villartay JP; Lim A; Al-Mousa H; Dupont S; Déchanet-Merville J; Coumau-Gatbois E; Gougeon ML; Lemainque A; Eidenschenk C; Jouanguy E; Abel L; Casanova JL; Fischer A; Le Deist F
J Clin Invest; 2005 Nov; 115(11):3291-9. PubMed ID: 16276422
[TBL] [Abstract][Full Text] [Related]
35. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
van der Burg M; van Veelen LR; Verkaik NS; Wiegant WW; Hartwig NG; Barendregt BH; Brugmans L; Raams A; Jaspers NG; Zdzienicka MZ; van Dongen JJ; van Gent DC
J Clin Invest; 2006 Jan; 116(1):137-45. PubMed ID: 16357942
[TBL] [Abstract][Full Text] [Related]
36. RAG mutations in human B cell-negative SCID.
Schwarz K; Gauss GH; Ludwig L; Pannicke U; Li Z; Lindner D; Friedrich W; Seger RA; Hansen-Hagge TE; Desiderio S; Lieber MR; Bartram CR
Science; 1996 Oct; 274(5284):97-9. PubMed ID: 8810255
[TBL] [Abstract][Full Text] [Related]
37. Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.
Benhsaien I; Essadssi S; Elkhattabi L; Bakhchane A; Abdelghaffar H; Bousfiha AA; Badou A; Barakat A
Immunobiology; 2021 May; 226(3):152090. PubMed ID: 33964732
[TBL] [Abstract][Full Text] [Related]
38. Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.
Brauer PM; Pessach IM; Clarke E; Rowe JH; Ott de Bruin L; Lee YN; Dominguez-Brauer C; Comeau AM; Awong G; Felgentreff K; Zhang YH; Bredemeyer A; Al-Herz W; Du L; Ververs F; Kennedy M; Giliani S; Keller G; Sleckman BP; Schatz DG; Bushman FD; Notarangelo LD; Zúñiga-Pflücker JC
Blood; 2016 Aug; 128(6):783-93. PubMed ID: 27301863
[TBL] [Abstract][Full Text] [Related]
39. The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
Noordzij JG; de Bruin-Versteeg S; Verkaik NS; Vossen JM; de Groot R; Bernatowska E; Langerak AW; van Gent DC; van Dongen JJ
Blood; 2002 Sep; 100(6):2145-52. PubMed ID: 12200379
[TBL] [Abstract][Full Text] [Related]
40. Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A; Santagata S; Bozzi F; Imberti L; Notarangelo LD
J Clin Immunol; 1999 Mar; 19(2):87-97. PubMed ID: 10226883
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
