171 related articles for article (PubMed ID: 17827065)
21. A perspective on IL-7Rα deficient T-B+NK+ severe combined immunodeficiency.
Xinghan KF; Harkensee C
Pediatr Infect Dis J; 2015 Mar; 34(3):301-3. PubMed ID: 25191848
[TBL] [Abstract][Full Text] [Related]
22. Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.
Lee PP; Chan KW; Chen TX; Jiang LP; Wang XC; Zeng HS; Chen XY; Liew WK; Chen J; Chu KM; Chan LL; Shek L; Lee AC; Yu HH; Li Q; Xu CG; Sultan-Ugdoracion G; Latiff ZA; Latiff AH; Jirapongsananuruk O; Ho MH; Lee TL; Yang XQ; Lau YL
J Clin Immunol; 2011 Apr; 31(2):281-96. PubMed ID: 21184155
[TBL] [Abstract][Full Text] [Related]
23. Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease.
Mou W; Gao L; He J; Yin J; Xu B; Gui J
Immunogenetics; 2021 Dec; 73(6):425-434. PubMed ID: 34406419
[TBL] [Abstract][Full Text] [Related]
24. Interleukin 7 receptor alpha-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell-depleted bone marrow transplantation.
Ponda P; Schuval SJ; Kaplan B; Logalbo P; Roberts JL; Bonagura VR
Ann Allergy Asthma Immunol; 2006 Dec; 97(6):755-8. PubMed ID: 17201233
[TBL] [Abstract][Full Text] [Related]
25. Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency.
Laffort C; Le Deist F; Favre M; Caillat-Zucman S; Radford-Weiss I; Debré M; Fraitag S; Blanche S; Cavazzana-Calvo M; de Saint Basile G; de Villartay JP; Giliani S; Orth G; Casanova JL; Bodemer C; Fischer A
Lancet; 2004 Jun; 363(9426):2051-4. PubMed ID: 15207958
[TBL] [Abstract][Full Text] [Related]
26. Intrinsic defects of B cell function in X-linked severe combined immunodeficiency.
White H; Thrasher A; Veys P; Kinnon C; Gaspar HB
Eur J Immunol; 2000 Mar; 30(3):732-7. PubMed ID: 10741387
[TBL] [Abstract][Full Text] [Related]
27. Autoimmunity in severe combined immunodeficiency (SCID).
Elhasid R; Bergman R; Etzioni A
Blood; 2002 Oct; 100(7):2677-8; author reply 2678-9. PubMed ID: 12360982
[No Abstract] [Full Text] [Related]
28. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
Engelhardt KR; Xu Y; Grainger A; Germani Batacchi MG; Swan DJ; Willet JD; Abd Hamid IJ; Agyeman P; Barge D; Bibi S; Jenkins L; Flood TJ; Abinun M; Slatter MA; Gennery AR; Cant AJ; Santibanez Koref M; Gilmour K; Hambleton S
J Clin Immunol; 2017 Jan; 37(1):42-50. PubMed ID: 27807805
[TBL] [Abstract][Full Text] [Related]
29. Selective growth advantage of wild-type lymphocytes in X-linked SCID recipients.
Kume A; Koremoto M; Mizukami H; Okada T; Hanazono Y; Sugamura K; Ozawa K
Bone Marrow Transplant; 2002 Jul; 30(2):113-8. PubMed ID: 12132050
[TBL] [Abstract][Full Text] [Related]
30. IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
Safaei S; Pourpak Z; Moin M; Houshmand M
Iran J Allergy Asthma Immunol; 2011 Jun; 10(2):129-32. PubMed ID: 21625022
[TBL] [Abstract][Full Text] [Related]
31. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.
Dalal I; Grunebaum E; Cohen A; Roifman CM
Clin Genet; 2001 Jun; 59(6):430-7. PubMed ID: 11453975
[TBL] [Abstract][Full Text] [Related]
32. Jak3 and the pathogenesis of severe combined immunodeficiency.
O'Shea JJ; Husa M; Li D; Hofmann SR; Watford W; Roberts JL; Buckley RH; Changelian P; Candotti F
Mol Immunol; 2004 Jul; 41(6-7):727-37. PubMed ID: 15220007
[TBL] [Abstract][Full Text] [Related]
33. Expression analysis and characterization of alternatively spliced transcripts of human IL-7Ralpha chain encoding two truncated receptor proteins in relapsed childhood all.
Korte A; Köchling J; Badiali L; Eckert C; Andreae J; Geilen W; Kebelmann-Betzing C; Taube T; Wu S; Henze G; Seeger K
Cytokine; 2000 Nov; 12(11):1597-608. PubMed ID: 11052810
[TBL] [Abstract][Full Text] [Related]
34. T cell reconstitution by haploidentical BMT does not restore the diversification of the Ig heavy chain gene in patients with X-linked SCID.
Minegishi Y; Ishii N; Tsuchida M; Okawa H; Sugamura K; Yata J
Bone Marrow Transplant; 1995 Dec; 16(6):801-6. PubMed ID: 8750273
[TBL] [Abstract][Full Text] [Related]
35. Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
Fuchs S; Rensing-Ehl A; Erlacher M; Vraetz T; Hartjes L; Janda A; Rizzi M; Lorenz MR; Gilmour K; de Saint-Basile G; Roifman CM; Cheuk S; Gennery A; Thrasher AJ; Fuchs I; Schwarz K; Speckmann C; Ehl S
Eur J Immunol; 2014 Oct; 44(10):3129-40. PubMed ID: 25042067
[TBL] [Abstract][Full Text] [Related]
36. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).
Macchi P; Villa A; Giliani S; Sacco MG; Frattini A; Porta F; Ugazio AG; Johnston JA; Candotti F; O'Shea JJ
Nature; 1995 Sep; 377(6544):65-8. PubMed ID: 7659163
[TBL] [Abstract][Full Text] [Related]
37. Novel Compound Heterozygous Mutations in
Zangari P; Cifaldi C; Di Cesare S; Di Matteo G; Chiriaco M; Amodio D; Cotugno N; De Luca M; Surace C; Ladogana S; Gardini S; Merli P; Algeri M; Rossi P; Palma P; Cancrini C; Finocchi A
Front Immunol; 2019; 10():2471. PubMed ID: 31736942
[TBL] [Abstract][Full Text] [Related]
38. Delayed onset of (severe) combined immunodeficiency (S)CID (T-B+NK+): complete IL-7 receptor deficiency in a 22 months old girl.
Rossberg S; Schwarz K; Meisel C; Holzhauer S; Kühl J; Ebell W; Wahn V; von Bernuth H
Klin Padiatr; 2009; 221(6):339-43. PubMed ID: 19890784
[TBL] [Abstract][Full Text] [Related]
39. [Transplantation of genetically modified cells in the treatment of children with SCID: great hopes and recent disappointments].
Smogorzewska EM; Weinberg KI; Kohn DB
Med Wieku Rozwoj; 2003; 7(1):27-34. PubMed ID: 13130167
[TBL] [Abstract][Full Text] [Related]
40. Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.
Notarangelo LD; Giliani S; Mella P; Schumacher RF; Mazza C; Savoldi G; Rodriguez-Pérez C; Badolato R; Mazzolari E; Porta F; Candotti F; Ugazio AG
Immunobiology; 2000 Aug; 202(2):106-19. PubMed ID: 10993286
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
