Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies-Reference-Cited by-同舟云学术

Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

Published:2014-12 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Brue Thierry,Quentien Marie-Hélène,Khetchoumian Konstantin,Bensa Marco,Capo-Chichi José-Mario,Delemer Brigitte,Balsalobre Aurelio,Nassif Christina,Papadimitriou Dimitris T,Pagnier Anne,Hasselmann Caroline,Patry Lysanne,Schwartzentruber Jeremy,Souchon Pierre-François,Takayasu Shinobu,Enjalbert Alain,Van Vliet Guy,Majewski Jacek,Drouin Jacques,Samuels Mark E

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-014-0139-9/fulltext.html

Reference31 articles.

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2. Younes JS, Secord EA: Panhypopituitarism in a child with common variable immunodeficiency. Ann Allergy Asthma Immunol. 2002, 89 (3): 322-325. 10.1016/S1081-1206(10)61963-1.

3. Tovo PA, Lala R, Martino S, Pastorelli G, De Sanctis C: Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. Eur J Pediatr. 1991, 150 (6): 400-402. 10.1007/BF02093717.

4. Chen K, Coonrod EM, Kumanovics 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: Germline mutations in NFKB2 implicate the noncanonical NF-kappaB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet. 2013, 93 (5): 812-824. 10.1016/j.ajhg.2013.09.009.

5. Lee CE, Fulcher DA, Whittle B, Chand R, Fewings N, Field M, Andrews D, Goodnow CC, Cook MC: Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100. Blood. 2014, 124 (19): 2964-2972. 10.1182/blood-2014-06-578542.

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