220 related articles for article (PubMed ID: 32655540)
21. 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]
22. Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
Zhang ZY; Zhao XD; Jiang LP; Liu EM; Cui YX; Wang M; Wei H; Yu J; An YF; Yang XQ
Pediatr Allergy Immunol; 2011 Aug; 22(5):482-7. PubMed ID: 21771083
[TBL] [Abstract][Full Text] [Related]
23. Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and
Sharapova SO; Pashchenko OE; Bondarenko AV; Vakhlyarskaya SS; Prokofjeva T; Fedorova AS; Savchak I; Mareika Y; Valiev TT; Popa A; Tuzankina IA; Vlasova EV; Sakovich IS; Polyakova EA; Rumiantseva NV; Naumchik IV; Kulyova SA; Aleshkevich SN; Golovataya EI; Minakovskaya NV; Belevtsev MV; Latysheva EA; Latysheva TV; Beznoshchenko AG; Akopyan H; Makukh H; Kozlova O; Varabyou DS; Ballow M; Ong MS; Walter JE; Kondratenko IV; Kostyuchenko LV; Aleinikova OV
Front Immunol; 2020; 11():602482. PubMed ID: 33488600
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
Walter JE; Rosen LB; Csomos K; Rosenberg JM; Mathew D; Keszei M; Ujhazi B; Chen K; Lee YN; Tirosh I; Dobbs K; Al-Herz W; Cowan MJ; Puck J; Bleesing JJ; Grimley MS; Malech H; De Ravin SS; Gennery AR; Abraham RS; Joshi AY; Boyce TG; Butte MJ; Nadeau KC; Balboni I; Sullivan KE; Akhter J; Adeli M; El-Feky RA; El-Ghoneimy DH; Dbaibo G; Wakim R; Azzari C; Palma P; Cancrini C; Capuder K; Condino-Neto A; Costa-Carvalho BT; Oliveira JB; Roifman C; Buchbinder D; Kumanovics A; Franco JL; Niehues T; Schuetz C; Kuijpers T; Yee C; Chou J; Masaad MJ; Geha R; Uzel G; Gelman R; Holland SM; Recher M; Utz PJ; Browne SK; Notarangelo LD
J Clin Invest; 2015 Nov; 125(11):4135-48. PubMed ID: 26457731
[TBL] [Abstract][Full Text] [Related]
26. Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
Kato M; Kimura H; Seki M; Shimada A; Hayashi Y; Morio T; Kumaki S; Ishida Y; Kamachi Y; Yachie A
Allergol Int; 2006 Jun; 55(2):115-9. PubMed ID: 17075247
[TBL] [Abstract][Full Text] [Related]
27. [Primary immunodeficiencies. Clinical features and variant forms].
Fontán Casariego G
Allergol Immunopathol (Madr); 2001; 29(3):101-7. PubMed ID: 11434882
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.
Weisz Hubshman M; Basel-Vanagaite L; Krauss A; Konen O; Levy Y; Garty BZ; Smirin-Yosef P; Maya I; Lagovsky I; Taub E; Marom D; Gaash D; Shichrur K; Avigad S; Hayman-Manzur L; Villa A; Sobacchi C; Shohat M; Yaniv I; Stein J
Clin Genet; 2017 Jun; 91(6):902-907. PubMed ID: 27808398
[TBL] [Abstract][Full Text] [Related]
30. Recent advances in understanding RAG deficiencies.
Gennery A
F1000Res; 2019; 8():. PubMed ID: 30800289
[TBL] [Abstract][Full Text] [Related]
31. RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
Bosticardo M; Pala F; Notarangelo LD
Eur J Immunol; 2021 May; 51(5):1028-1038. PubMed ID: 33682138
[TBL] [Abstract][Full Text] [Related]
32. [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]
33. 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]
34. Long-Term Health Outcome and Quality of Life Post-HSCT for IL7Rα-, Artemis-, RAG1- and RAG2-Deficient Severe Combined Immunodeficiency: a Single Center Report.
Abd Hamid IJ; Slatter MA; McKendrick F; Pearce MS; Gennery AR
J Clin Immunol; 2018 Aug; 38(6):727-732. PubMed ID: 30105620
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
Dalal I; Tasher D; Somech R; Etzioni A; Garti BZ; Lev D; Cohen S; Somekh E; Leshinsky-Silver E
Clin Immunol; 2011 Sep; 140(3):284-90. PubMed ID: 21624848
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.
Bulkhi AA; Dasso JF; Schuetz C; Walter JE
Expert Rev Clin Immunol; 2019 Oct; 15(10):1033-1046. PubMed ID: 31535575
[No Abstract] [Full Text] [Related]
39. Predicting the Occurrence of Variants in RAG1 and RAG2.
Lawless D; Lango Allen H; Thaventhiran J; ; Hodel F; Anwar R; Fellay J; Walter JE; Savic S
J Clin Immunol; 2019 Oct; 39(7):688-701. PubMed ID: 31388879
[TBL] [Abstract][Full Text] [Related]
40. Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.
Yu X; Almeida JR; Darko S; van der Burg M; DeRavin SS; Malech H; Gennery A; Chinn I; Markert ML; Douek DC; Milner JD
J Allergy Clin Immunol; 2014 Apr; 133(4):1109-15. PubMed ID: 24406074
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
