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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 19;15:139. doi: 10.1186/s12881-014-0139-9.


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 1;102(7):2127-2130. doi: 10.1210/jc.2017-00341.


Central diabetes insipidus in a patient with NFKB2 mutation: Expanding the endocrine phenotype in DAVID syndrome.

Nasomyont N, Lindsley AW, Assa'ad A, Dawson DB, Neilson DE, Brady CC, Rutter MM.

J Clin Endocrinol Metab. 2019 May 31. pii: jc.2019-00469. doi: 10.1210/jc.2019-00469. [Epub ahead of print]


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. doi: 10.1007/s10875-014-0095-3. Epub 2014 Sep 10.


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 7;93(5):812-24. doi: 10.1016/j.ajhg.2013.09.009. Epub 2013 Oct 17.


Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.

Quentien MH, Delemer B, Papadimitriou DT, Souchon PF, Jaussaud R, Pagnier A, Munzer M, Jullien N, Reynaud R, Galon-Faure N, Enjalbert A, Barlier A, Brue T.

J Clin Endocrinol Metab. 2012 Jan;97(1):E121-8. doi: 10.1210/jc.2011-0407. Epub 2011 Oct 19.


Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.

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 Mar 19;10:297. doi: 10.3389/fimmu.2019.00297. eCollection 2019.


Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

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 28;130(13):1553-1564. doi: 10.1182/blood-2017-05-782177. Epub 2017 Aug 4.


A novel NFKB2 mutation in a Chinese patient with DAVID syndrome.

Xiao B, Fang D, Liu H, Wang L, Qiu W.

Gene. 2019 Mar 1;687:319-322. doi: 10.1016/j.gene.2018.12.050. Epub 2018 Dec 29. No abstract available.


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. Review. Erratum in: Medicine (Baltimore). 2017 Nov 03;96(44):e8572.


[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 2;56(8):628-632. doi: 10.3760/cma.j.issn.0578-1310.2018.08.014. Review. Chinese.


Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100.

Lee CE, Fulcher DA, Whittle B, Chand R, Fewings N, Field M, Andrews D, Goodnow CC, Cook MC.

Blood. 2014 Nov 6;124(19):2964-72. doi: 10.1182/blood-2014-06-578542. Epub 2014 Sep 18.


Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.

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 Jul 30;7:303. doi: 10.3389/fped.2019.00303. eCollection 2019.


Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Chen Y, Zhang Q, Shen T, Xiao X, Li S, Guan L, Zhang J, Zhu Z, Yin Y, Wang P, Guo X, Wang J, Zhang Q.

Invest Ophthalmol Vis Sci. 2013 Jun 26;54(6):4351-7. doi: 10.1167/iovs.13-11606.


Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.


A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor".

Tucker E, O'Donnell K, Fuchsberger M, Hilton AA, Metcalf D, Greig K, Sims NA, Quinn JM, Alexander WS, Hilton DJ, Kile BT, Tarlinton DM, Starr R.

J Immunol. 2007 Dec 1;179(11):7514-22.


Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease.

Prince KL, Colvin SC, Park S, Lai X, Witzmann FA, Rhodes SJ.

Endocrinology. 2013 Feb;154(2):738-48. doi: 10.1210/en.2012-1790. Epub 2013 Jan 3.


Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers Av, Goossens M, Grüters A, Amselem S.

Nat Genet. 2000 Jun;25(2):182-6.


Mutations in PROP1 cause familial combined pituitary hormone deficiency.

Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd, Rosenfeld MG.

Nat Genet. 1998 Feb;18(2):147-9.


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