222 related articles for article (PubMed ID: 28778864)
1. Novel nonsense gain-of-function
Kuehn HS; Niemela JE; Sreedhara K; Stoddard JL; Grossman J; Wysocki CA; de la Morena MT; Garofalo M; Inlora J; Snyder MP; Lewis DB; Stratakis CA; Fleisher TA; Rosenzweig SD
Blood; 2017 Sep; 130(13):1553-1564. PubMed ID: 28778864
[TBL] [Abstract][Full Text] [Related]
2. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Chen K; Coonrod EM; Kumánovics A; Franks ZF; Durtschi JD; Margraf RL; Wu W; Heikal NM; Augustine NH; Ridge PG; Hill HR; Jorde LB; Weyrich AS; Zimmerman GA; Gundlapalli AV; Bohnsack JF; Voelkerding KV
Am J Hum Genet; 2013 Nov; 93(5):812-24. PubMed ID: 24140114
[TBL] [Abstract][Full Text] [Related]
3. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in
Klemann C; Camacho-Ordonez N; Yang L; Eskandarian Z; Rojas-Restrepo JL; Frede N; Bulashevska A; Heeg M; Al-Ddafari MS; Premm J; Seidl M; Ammann S; Sherkat R; Radhakrishnan N; Warnatz K; Unger S; Kobbe R; Hüfner A; Leahy TR; Ip W; Burns SO; Fliegauf M; Grimbacher B
Front Immunol; 2019; 10():297. PubMed ID: 30941118
[TBL] [Abstract][Full Text] [Related]
4. Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.
Tuijnenburg P; Lango Allen H; de Bree GJ; Savic S; Jansen MH; Stockdale C; Simeoni I; Ten Berge IJM; van Leeuwen EMM; ; Thaventhiran JE; Kuijpers TW
Clin Immunol; 2019 Jun; 203():23-27. PubMed ID: 30953794
[TBL] [Abstract][Full Text] [Related]
5. NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.
Shi C; Wang F; Tong A; Zhang XQ; Song HM; Liu ZY; Lyu W; Liu YH; Xia WB
Medicine (Baltimore); 2016 Oct; 95(40):e5081. PubMed ID: 27749582
[TBL] [Abstract][Full Text] [Related]
6. A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
Kuehn HS; Bernasconi A; Niemela JE; Almejun MB; Gallego WAF; Goel S; Stoddard JL; Sánchez RGP; Franco CAA; Oleastro M; Grunebaum E; Ballas Z; Cunningham-Rundles C; Fleisher TA; Franco JL; Danielian S; Rosenzweig SD
J Clin Immunol; 2020 Nov; 40(8):1093-1101. PubMed ID: 32813180
[TBL] [Abstract][Full Text] [Related]
7. A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.
Lal RA; Bachrach LK; Hoffman AR; Inlora J; Rego S; Snyder MP; Lewis DB
J Clin Endocrinol Metab; 2017 Jul; 102(7):2127-2130. PubMed ID: 28472507
[TBL] [Abstract][Full Text] [Related]
8. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D; Massaad MJ; Lee S; Scarselli A; Cancrini C; Moriya K; Sasahara Y; Lankester AC; Dorsey M; Di Giovanni D; Bezrodnik L; Ohnishi H; Nishikomori R; Tanita K; Kanegane H; Morio T; Gelfand EW; Jain A; Secord E; Picard C; Casanova JL; Albert MH; Torgerson TR; Geha RS
J Allergy Clin Immunol; 2018 Mar; 141(3):1060-1073.e3. PubMed ID: 28629746
[TBL] [Abstract][Full Text] [Related]
9. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
Brue T; Quentien MH; Khetchoumian K; Bensa M; Capo-Chichi JM; Delemer B; Balsalobre A; Nassif C; Papadimitriou DT; Pagnier A; Hasselmann C; Patry L; Schwartzentruber J; Souchon PF; Takayasu S; Enjalbert A; Van Vliet G; Majewski J; Drouin J; Samuels ME
BMC Med Genet; 2014 Dec; 15():139. PubMed ID: 25524009
[TBL] [Abstract][Full Text] [Related]
10. A Novel Monoallelic Nonsense Mutation in the
Kotlinowski J; Bukowska-Strakova K; Koppolu A; Kosińska J; Pydyn N; Stawinski P; Wilamowski M; Nowak W; Józkowicz A; Baran J; Płoski R; Jura J
Front Genet; 2019; 10():140. PubMed ID: 30863427
[TBL] [Abstract][Full Text] [Related]
11. Novel Heterozygous Mutation in
Aird A; Lagos M; Vargas-Hernández A; Posey JE; Coban-Akdemir Z; Jhangiani S; Mace EM; Reyes A; King A; Cavagnaro F; Forbes LR; Chinn IK; Lupski JR; Orange JS; Poli MC
Front Pediatr; 2019; 7():303. PubMed ID: 31417880
[TBL] [Abstract][Full Text] [Related]
12. Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity.
Lougaris V; Moratto D; Baronio M; Lorenzini T; Rossi S; Gazzurelli L; Bondioni MP; Plebani A
Clin Immunol; 2019 Aug; 205():153-155. PubMed ID: 30500415
[TBL] [Abstract][Full Text] [Related]
13. Combined immune deficiency in a patient with a novel NFKB2 mutation.
Lindsley AW; Qian Y; Valencia CA; Shah K; Zhang K; Assa'ad A
J Clin Immunol; 2014 Nov; 34(8):910-5. PubMed ID: 25205549
[TBL] [Abstract][Full Text] [Related]
14. More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.
Bienias M; Gabrielyan A; Geberzahn L; Rösen-Wolff A; Huebner A; Jacobsen EM; Toepfner N; Fang M; Lee-Kirsch MA; Roesler J; Schuetz C
Pediatr Allergy Immunol; 2021 May; 32(4):793-797. PubMed ID: 33369776
[No Abstract] [Full Text] [Related]
15. A Pathogenic Missense Variant in
Fliegauf M; Krüger R; Steiner S; Hanitsch LG; Büchel S; Wahn V; von Bernuth H; Grimbacher B
Front Immunol; 2021; 12():621503. PubMed ID: 33995346
[TBL] [Abstract][Full Text] [Related]
16. Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.
Slade CA; McLean C; Scerri T; Giang TB; Megaloudis S; Strathmore A; Tempany JC; Nicholls K; D'Arcy C; Bahlo M; Hodgkin PD; Douglass JA; Bryant VL
J Clin Immunol; 2019 Apr; 39(3):324-335. PubMed ID: 30927119
[TBL] [Abstract][Full Text] [Related]
17. Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency.
Sundaram K; Ferro M; ; Hayman G; Ibrahim MAA
J Clin Immunol; 2023 Aug; 43(6):1159-1164. PubMed ID: 37191755
[No Abstract] [Full Text] [Related]
18. Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.
McDonald DR; Mooster JL; Reddy M; Bawle E; Secord E; Geha RS
J Allergy Clin Immunol; 2007 Oct; 120(4):900-7. PubMed ID: 17931563
[TBL] [Abstract][Full Text] [Related]
19. NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential.
De Leo P; Gazzurelli L; Baronio M; Montin D; Di Cesare S; Giancotta C; Licciardi F; Cancrini C; Aiuti A; Plebani A; Cicalese MP; Lougaris V; Fousteri G
Clin Immunol; 2020 Jan; 210():108309. PubMed ID: 31751612
[TBL] [Abstract][Full Text] [Related]
20. [De novo NFκB2 gene mutation associated common variable immunodeficiency].
Luo MZ; Xu T; Xue XH; Wang YP; Wu PL; Chen XM; Tang XM; Zhao XD; Zhang ZY
Zhonghua Er Ke Za Zhi; 2018 Aug; 56(8):628-632. PubMed ID: 30078247
[No Abstract] [Full Text] [Related]
[Next] [New Search]
