178 related articles for article (PubMed ID: 35656589)
1. Cernunnos defect in an Iranian patient with T
Jamee M; Khakbazan Fard N; Fallah S; Golchehre Z; Fallahi M; Shamsian BS; Sharafian S; Chavoshzadeh Z
Mol Genet Genomic Med; 2022 Aug; 10(8):e1990. PubMed ID: 35656589
[TBL] [Abstract][Full Text] [Related]
2. Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.
Yazdani R; Abolhassani H; Tafaroji J; Azizi G; Hamidieh AA; Chou J; Geha RS; Aghamohammadi A
Clin Immunol; 2017 Oct; 183():201-206. PubMed ID: 28729231
[TBL] [Abstract][Full Text] [Related]
3. Cernunnos deficiency: a case report.
Turul T; Tezcan I; Sanal O
J Investig Allergol Clin Immunol; 2011; 21(4):313-6. PubMed ID: 21721379
[TBL] [Abstract][Full Text] [Related]
4. Novel
Frizinsky S; Rechavi E; Barel O; Lee YN; Simon AJ; Lev A; Stauber T; Adam E; Somech R
Front Pediatr; 2022; 10():883173. PubMed ID: 35967585
[TBL] [Abstract][Full Text] [Related]
5. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency.
Cipe FE; Aydogmus C; Babayigit Hocaoglu A; Kilic M; Kaya GD; Yilmaz Gulec E
Case Rep Pediatr; 2014; 2014():614238. PubMed ID: 24511403
[TBL] [Abstract][Full Text] [Related]
6. Cernunnos deficiency: Further delineation in 5 Egyptian patients.
El Hawary R; Meshaal S; Lotfy S; Abd Elaziz D; Alkady R; Eldash A; Erfan A; Chohayeb E; Saad M; Darwish R; Boutros J; Galal N; Elmarsafy A
Eur J Med Genet; 2023 Oct; 66(10):104840. PubMed ID: 37703920
[TBL] [Abstract][Full Text] [Related]
7. Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.
Çağdaş D; Özgür TT; Asal GT; Revy P; De Villartay JP; van der Burg M; Sanal Ö; Tezcan I
Pediatr Transplant; 2012 Aug; 16(5):E167-71. PubMed ID: 21535335
[TBL] [Abstract][Full Text] [Related]
8. Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense
Recio MJ; Dominguez-Pinilla N; Perrig MS; Rodriguez Vigil-Iturrate C; Salmón-Rodriguez N; Martinez Faci C; Castro-Panete MJ; Blas-Espada J; López-Nevado M; Ruiz-Garcia R; Chaparro-García R; Allende LM; Gonzalez-Granado LI
Front Immunol; 2018; 9():2959. PubMed ID: 30666249
[TBL] [Abstract][Full Text] [Related]
9. Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
Sheikh F; Hawwari A; Alhissi S; Al Gazlan S; Al Dhekri H; Rehan Khaliq AM; Borrero E; El-Baik L; Arnaout R; Al-Mousa H; Alazami AM
J Clin Immunol; 2017 Aug; 37(6):575-581. PubMed ID: 28741180
[TBL] [Abstract][Full Text] [Related]
10. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Buck D; Malivert L; de Chasseval R; Barraud A; Fondanèche MC; Sanal O; Plebani A; Stéphan JL; Hufnagel M; le Deist F; Fischer A; Durandy A; de Villartay JP; Revy P
Cell; 2006 Jan; 124(2):287-99. PubMed ID: 16439204
[TBL] [Abstract][Full Text] [Related]
11. Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J; Desai M; Gupta M; Dalvi A; Terance A; Rosenzweig SD; Stoddard JL; Niemela JE; Tamankar V; Mhatre S; Bargir U; Kulkarni M; Shah N; Aggarwal A; Lashkari HP; Krishna V; Govindaraj G; Kalra M; Madkaikar M
Front Immunol; 2019; 10():23. PubMed ID: 30778343
[TBL] [Abstract][Full Text] [Related]
12. Successful Hematopoietic Stem Cell Transplant in a Patient with Omenn Syndrome: A Case Report.
Shamsian BS; Paksaz A; Chavoshzadeh Z; Sharafian S; Tabatabaee Yazdi SM; Jamee M
Exp Clin Transplant; 2023 Feb; 21(2):189-193. PubMed ID: 36919728
[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. 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]
15. Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience.
Benhsaien I; Ailal F; El Bakkouri J; Jeddane L; Ouair H; Admou B; Bouskraoui M; Hbibi M; Hida M; Amenzoui N; Jouhadi Z; El Hafidi N; Rada N; Benajiba N; Abilkassem R; Badou A; Bousfiha AA
J Clin Immunol; 2021 Apr; 41(3):631-638. PubMed ID: 33411152
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Radiosensitive severe combined immunodeficiency disease.
Dvorak CC; Cowan MJ
Immunol Allergy Clin North Am; 2010 Feb; 30(1):125-42. PubMed ID: 20113890
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID).
Barmettler S; Coffey K; Smith MJ; Chong HJ; Pozos TC; Seroogy CM; Walter J; Abraham RS
J Allergy Clin Immunol Pract; 2021 Feb; 9(2):723-732.e3. PubMed ID: 32818697
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]