229 related articles for article (PubMed ID: 25046553)
1. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer DK; Martinez CA; Sorte HS; Forbes LR; Demmler-Harrison GJ; Hanson IC; Pearson NM; Noroski LM; Zaki SR; Bellini WJ; Leduc MS; Yang Y; Eng CM; Patel A; Rodningen OK; Muzny DM; Gibbs RA; Campbell IM; Shaw CA; Baker MW; Zhang V; Lupski JR; Orange JS; Seeborg FO; Stray-Pedersen A
Clin Exp Immunol; 2014 Dec; 178(3):459-69. PubMed ID: 25046553
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.
Yan L; He Y; Zhang Y; Liu Y; Xu L; Han C; Zhao Y; Li H
BMC Med Genomics; 2023 Dec; 16(1):323. PubMed ID: 38082310
[TBL] [Abstract][Full Text] [Related]
4. Newborn screening for SCID identifies patients with ataxia telangiectasia.
Mallott J; Kwan A; Church J; Gonzalez-Espinosa D; Lorey F; Tang LF; Sunderam U; Rana S; Srinivasan R; Brenner SE; Puck J
J Clin Immunol; 2013 Apr; 33(3):540-9. PubMed ID: 23264026
[TBL] [Abstract][Full Text] [Related]
5. MHC II deficient infant identified by newborn screening program for SCID.
Marcus N; Stauber T; Lev A; Simon AJ; Stein J; Broides A; Somekh I; Almashanu S; Somech R
Immunol Res; 2018 Aug; 66(4):537-542. PubMed ID: 30084052
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.
Al-Mousa H; Al-Dakheel G; Jabr A; Elbadaoui F; Abouelhoda M; Baig M; Monies D; Meyer B; Hawwari A; Dasouki M
Front Immunol; 2018; 9():782. PubMed ID: 29713328
[TBL] [Abstract][Full Text] [Related]
8. Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth.
Chan SB; Zhong Y; Lim SCJ; Poh S; Teh KL; Soh JY; Chong CY; Thoon KC; Seng M; Tan ES; Arkachaisri T; Liew WK
Front Immunol; 2021; 12():794221. PubMed ID: 35046952
[TBL] [Abstract][Full Text] [Related]
9. Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola AB; Reid B; Sirror R; Brager R; Dent P; Chakroborty P; Bulman DE; Roifman CM
Front Immunol; 2019; 10():2940. PubMed ID: 31921190
[TBL] [Abstract][Full Text] [Related]
10. A case of aberrant CD8 T cell-restricted IL-7 signaling with a Janus kinase 3 defect-associated atypical severe combined immunodeficiency.
Khanolkar A; Wilks JD; Liu G; Simpson BM; Caparelli EA; Kirschmann DA; Bergerson J; Fuleihan RL
Immunol Res; 2020 Feb; 68(1):13-27. PubMed ID: 32215810
[TBL] [Abstract][Full Text] [Related]
11. The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.
Quinn J; Orange JS; Modell V; Modell F
Immunol Res; 2020 Feb; 68(1):48-53. PubMed ID: 32128663
[TBL] [Abstract][Full Text] [Related]
12. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.
Kalman L; Lindegren ML; Kobrynski L; Vogt R; Hannon H; Howard JT; Buckley R
Genet Med; 2004; 6(1):16-26. PubMed ID: 14726805
[TBL] [Abstract][Full Text] [Related]
13. A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.
Liao CY; Yu HW; Cheng CN; Chen JS; Lin CW; Chen PC; Shieh CC
J Microbiol Immunol Infect; 2020 Feb; 53(1):99-105. PubMed ID: 29551298
[TBL] [Abstract][Full Text] [Related]
14. CRISPR/Cas9-Based Disease Modeling and Functional Correction of Interleukin 7 Receptor Alpha Severe Combined Immunodeficiency in T-Lymphocytes and Hematopoietic Stem Cells.
Rai R; Steinberg Z; Romito M; Zinghirino F; Hu YT; White N; Naseem A; Thrasher AJ; Turchiano G; Cavazza A
Hum Gene Ther; 2024 Apr; 35(7-8):269-283. PubMed ID: 38251667
[TBL] [Abstract][Full Text] [Related]
15. IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.
Butte MJ; Haines C; Bonilla FA; Puck J
Clin Immunol; 2007 Nov; 125(2):159-64. PubMed ID: 17827065
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen.
Kubala SA; Sandhu A; Palacios-Kibler T; Ward B; Harmon G; DeFelice ML; Bundy V; Younger MEM; Lederman H; Liang H; Anzabi M; Ford MK; Heimall J; Keller MD; Lawrence MG
Clin Immunol; 2022 Dec; 245():109182. PubMed ID: 36368643
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.
Scott EM; Chandra S; Li J; Robinette ED; Brown MF; Wenger OK
J Clin Immunol; 2020 Feb; 40(2):321-328. PubMed ID: 31903518
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
