265 related articles for article (PubMed ID: 19890784)
1. 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]
2. 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]
3. 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]
4. Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
Avila EM; Uzel G; Hsu A; Milner JD; Turner ML; Pittaluga S; Freeman AF; Holland SM
Pediatrics; 2010 Nov; 126(5):e1248-52. PubMed ID: 20956421
[TBL] [Abstract][Full Text] [Related]
5. Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later.
Fuehrer M; Pannicke U; Schuetz C; Jacobsen EM; Schulz A; Friedrich W; Schwarz K; Hönig M
Klin Padiatr; 2014 May; 226(3):149-53. PubMed ID: 24515816
[TBL] [Abstract][Full Text] [Related]
6. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.
Puel A; Ziegler SF; Buckley RH; Leonard WJ
Nat Genet; 1998 Dec; 20(4):394-7. PubMed ID: 9843216
[TBL] [Abstract][Full Text] [Related]
7. A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.
Roifman CM; Zhang J; Chitayat D; Sharfe N
Blood; 2000 Oct; 96(8):2803-7. PubMed ID: 11023514
[TBL] [Abstract][Full Text] [Related]
8. [Early recognition and successful treatment of an infant with severe combined immune deficiency].
Mosdósi B; Decsi T; Nagy K; Soltész G; Maródi L
Orv Hetil; 2002 Sep; 143(36):2081-3. PubMed ID: 12378899
[TBL] [Abstract][Full Text] [Related]
9. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.
Buckley RH; Schiff SE; Schiff RI; Markert L; Williams LW; Roberts JL; Myers LA; Ward FE
N Engl J Med; 1999 Feb; 340(7):508-16. PubMed ID: 10021471
[TBL] [Abstract][Full Text] [Related]
10. Severe combined immunodeficiency (SCID): from molecular basis to clinical management.
Sponzilli I; Notarangelo LD
Acta Biomed; 2011 Apr; 82(1):5-13. PubMed ID: 22069950
[TBL] [Abstract][Full Text] [Related]
11. From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.
Martinez-Martinez L; Vazquez-Ortiz M; Gonzalez-Santesteban C; Martin-Nalda A; Vicente A; Plaza AM; Badell I; Alsina L; de la Calle-Martin O
Pediatr Allergy Immunol; 2012 Nov; 23(7):660-6. PubMed ID: 22882342
[TBL] [Abstract][Full Text] [Related]
12. Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.
Clément MC; Mahlaoui N; Mignot C; Le Bihan C; Rabetrano H; Hoang L; Neven B; Moshous D; Cavazzana M; Blanche S; Fischer A; Audrain M; Durand-Zaleski I
J Allergy Clin Immunol; 2015 Jun; 135(6):1589-93. PubMed ID: 25840725
[TBL] [Abstract][Full Text] [Related]
13. [A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient].
Zhang ZY; Zhao XD; Wang M; Yu J; An YF; Yang XQ
Zhonghua Er Ke Za Zhi; 2009 Sep; 47(9):691-5. PubMed ID: 20021794
[TBL] [Abstract][Full Text] [Related]
14. Defining combined immunodeficiency.
Roifman CM; Somech R; Kavadas F; Pires L; Nahum A; Dalal I; Grunebaum E
J Allergy Clin Immunol; 2012 Jul; 130(1):177-83. PubMed ID: 22664165
[TBL] [Abstract][Full Text] [Related]
15. Why newborn screening for severe combined immunodeficiency is essential: a case report.
Adeli MM; Buckley RH
Pediatrics; 2010 Aug; 126(2):e465-9. PubMed ID: 20603253
[TBL] [Abstract][Full Text] [Related]
16. Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Giżewska M; Durda K; Winter T; Ostrowska I; Ołtarzewski M; Klein J; Blankenstein O; Romanowska H; Krzywińska-Zdeb E; Patalan MF; Bartkowiak E; Szczerba N; Seiberling S; Birkenfeld B; Nauck M; von Bernuth H; Meisel C; Bernatowska EA; Walczak M; Pac M
Front Immunol; 2020; 11():1948. PubMed ID: 33178177
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.
Kung C; Pingel JT; Heikinheimo M; Klemola T; Varkila K; Yoo LI; Vuopala K; Poyhonen M; Uhari M; Rogers M; Speck SH; Chatila T; Thomas ML
Nat Med; 2000 Mar; 6(3):343-5. PubMed ID: 10700239
[TBL] [Abstract][Full Text] [Related]
18. Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.
Somech R; Lev A; Simon AJ; Korn D; Garty BZ; Amariglio N; Rechavi G; Almashanu S; Zlotogora J; Etzioni A
Isr Med Assoc J; 2013 Aug; 15(8):404-9. PubMed ID: 24079059
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7Rα Chain.
Mansour R; Bsat YE; Fadel A; El-Orfali Y; Noun D; Tarek N; Kabbara N; Abboud M; Massaad MJ
Front Immunol; 2022; 13():867837. PubMed ID: 35418989
[TBL] [Abstract][Full Text] [Related]
20. T
Stepensky P; Keller B; Shamriz O; von Spee-Mayer C; Friedmann D; Shadur B; Unger S; Fuchs S; NaserEddin A; Rumman N; Amro S; Molho Pessach V; Abuzaitoun O; Somech R; Elpeleg O; Ehl S; Warnatz K
J Clin Immunol; 2018 May; 38(4):527-536. PubMed ID: 29948574
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
