169 related articles for article (PubMed ID: 33040328)
21. Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.
Villa A; Sironi M; Macchi P; Matteucci C; Notarangelo LD; Vezzoni P; Mantovani A
Blood; 1996 Aug; 88(3):817-23. PubMed ID: 8704236
[TBL] [Abstract][Full Text] [Related]
22. Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
Mella P; Schumacher RF; Cranston T; de Saint Basile G; Savoldi G; Notarangelo LD
Hum Mutat; 2001 Oct; 18(4):355-6. PubMed ID: 11668621
[TBL] [Abstract][Full Text] [Related]
23. Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to JAK3 Mutation.
Basheer F; Lee E; Liongue C; Ward AC
Biomolecules; 2022 Oct; 12(10):. PubMed ID: 36291730
[TBL] [Abstract][Full Text] [Related]
24. Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.
Erman B; Bilic I; Hirschmugl T; Salzer E; Boztug H; Sanal Ö; Çağdaş Ayvaz D; Tezcan I; Boztug K
Scand J Immunol; 2017 Mar; 85(3):227-234. PubMed ID: 28109013
[TBL] [Abstract][Full Text] [Related]
25. Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.
Abd Hamid IJ; Slatter MA; McKendrick F; Pearce MS; Gennery AR
Blood; 2017 Apr; 129(15):2198-2201. PubMed ID: 28209722
[TBL] [Abstract][Full Text] [Related]
26. Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.
Sato T; Okano T; Tanaka-Kubota M; Kimura S; Miyamoto S; Ono S; Yamashita M; Mitsuiki N; Takagi M; Imai K; Kajiwara M; Ebato T; Ogata S; Oda H; Ohara O; Kanegane H; Morio T
Pediatr Int; 2016 Oct; 58(10):1076-1080. PubMed ID: 27593409
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Identification of Novel JAK3 Mutations by Whole-Exome Sequencing in a Korean Boy With Severe Combined Immunodeficiency.
Shim YJ; Ha JS
J Investig Allergol Clin Immunol; 2017 Jun; 27(3):187-189. PubMed ID: 28570225
[No Abstract] [Full Text] [Related]
29. Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease.
Puel A; Leonard WJ
Curr Opin Immunol; 2000 Aug; 12(4):468-73. PubMed ID: 10899029
[TBL] [Abstract][Full Text] [Related]
30. Human lymphoid development in the absence of common γ-chain receptor signaling.
Kohn LA; Seet CS; Scholes J; Codrea F; Chan R; Zaidi-Merchant S; Zhu Y; De Oliveira S; Kapoor N; Shah A; Abdel-Azim H; Kohn DB; Crooks GM
J Immunol; 2014 Jun; 192(11):5050-8. PubMed ID: 24771849
[TBL] [Abstract][Full Text] [Related]
31. In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction.
Candotti F; Oakes SA; Johnston JA; Notarangelo LD; O'Shea JJ; Blaese RM
J Exp Med; 1996 Jun; 183(6):2687-92. PubMed ID: 8676091
[TBL] [Abstract][Full Text] [Related]
32. Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID).
McWilliams LM; Dell Railey M; Buckley RH
J Allergy Clin Immunol Pract; 2015; 3(4):585-91. PubMed ID: 25824440
[TBL] [Abstract][Full Text] [Related]
33. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
Russell SM; Tayebi N; Nakajima H; Riedy MC; Roberts JL; Aman MJ; Migone TS; Noguchi M; Markert ML; Buckley RH; O'Shea JJ; Leonard WJ
Science; 1995 Nov; 270(5237):797-800. PubMed ID: 7481768
[TBL] [Abstract][Full Text] [Related]
34. JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.
Di Matteo G; Chiriaco M; Scarselli A; Cifaldi C; Livadiotti S; Di Cesare S; Ferradini V; Aiuti A; Rossi P; Finocchi A; Cancrini C
Mol Genet Genomic Med; 2018 Sep; 6(5):713-721. PubMed ID: 30032486
[TBL] [Abstract][Full Text] [Related]
35. Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.
Ursini MV; Gaetaniello L; Ambrosio R; Matrecano E; Apicella AJ; Salerno MC; Pignata C
Clin Exp Immunol; 2002 Sep; 129(3):502-9. PubMed ID: 12197892
[TBL] [Abstract][Full Text] [Related]
36. Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.
Brugnoni D; Notarangelo LD; Sottini A; Airò P; Pennacchio M; Mazzolari E; Signorini S; Candotti F; Villa A; Mella P; Vezzoni P; Cattaneo R; Ugazio AG; Imberti L
Blood; 1998 Feb; 91(3):949-55. PubMed ID: 9446656
[TBL] [Abstract][Full Text] [Related]
37. The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A; Garcia-Prat M; Magallón-Lorenz M; Martín-Nalda A; Drechsel O; Ossowski S; Alonso L; Rivière JG; Soler-Palacín P; Colobran R; Sayós J; Martínez-Gallo M; Franco-Jarava C
Clin Exp Immunol; 2020 Apr; 200(1):61-72. PubMed ID: 31799703
[TBL] [Abstract][Full Text] [Related]
38. Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Alizadeh Z; Fazlollahi MR; Mazinani M; Badalzadeh M; Heydarlou H; Carapito R; Molitor A; de Oteyza ACG; Proietti M; Bavani MS; Shariat M; Fallahpour M; Movahedi M; Moradi L; Grimbacher B; Bahram S; Pourpak Z
Genes Immun; 2023 Aug; 24(4):207-214. PubMed ID: 37516813
[TBL] [Abstract][Full Text] [Related]
39. A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.
Mou W; He J; Chen X; Zhang H; Ren X; Wu X; Ni X; Xu B; Gui J
Immunogenetics; 2017 Jan; 69(1):29-38. PubMed ID: 27566612
[TBL] [Abstract][Full Text] [Related]
40. IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M; Berglund LJ; Avery DT; Cowan MJ; Gennery AR; Smart J; Peake J; Wong M; Pai SY; Baxi S; Walter JE; Palendira U; Tangye GA; Rice M; Brothers S; Al-Herz W; Oettgen H; Eibel H; Puck JM; Cattaneo F; Ziegler JB; Giliani S; Tangye SG; Notarangelo LD
Blood; 2011 Dec; 118(26):6824-35. PubMed ID: 22039266
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
