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Items: 1 to 20 of 107

1.

Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing.

Ameratunga R, Lehnert K, Woon ST, Gillis D, Bryant VL, Slade CA, Steele R.

Clin Rev Allergy Immunol. 2018 Apr;54(2):261-268. doi: 10.1007/s12016-017-8645-0. Review.

PMID:
29030829
2.

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, Hakonarson H.

J Allergy Clin Immunol. 2016 Aug;138(2):544-550.e4. doi: 10.1016/j.jaci.2016.01.018. Epub 2016 Mar 23.

3.

The role of genomics in common variable immunodeficiency disorders.

Kienzler AK, Hargreaves CE, Patel SY.

Clin Exp Immunol. 2017 Jun;188(3):326-332. doi: 10.1111/cei.12947. Epub 2017 Mar 29. Review.

4.

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F.

J Med Genet. 2016 Sep;53(9):575-90. doi: 10.1136/jmedgenet-2015-103690. Epub 2016 Jun 1. Review.

PMID:
27250108
5.

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches.

Li J, Wei Z, Li YR, Maggadottir SM, Chang X, Desai A, Hakonarson H.

Biochim Biophys Acta. 2016 Nov;1860(11 Pt B):2656-63. doi: 10.1016/j.bbagen.2016.06.014. Epub 2016 Jun 15. Review.

PMID:
27316315
6.

Common Variable Immunodeficiency Caused by FANC Mutations.

Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui-Sekinaka K, Honma K, Takagi M, Arai A, Yoshida K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Muramatsu H, Kojima S, Hira A, Takata M, Ohara O, Ogawa S, Morio T, Nonoyama S.

J Clin Immunol. 2017 Jul;37(5):434-444. doi: 10.1007/s10875-017-0396-4. Epub 2017 May 11.

PMID:
28493158
7.

Common variable immunodeficiency: test indications and interpretations.

Weiler CR, Bankers-Fulbright JL.

Mayo Clin Proc. 2005 Sep;80(9):1187-200. Review.

PMID:
16178499
8.

Do ribosomopathies explain some cases of common variable immunodeficiency?

Khan S, Pereira J, Darbyshire PJ, Holding S, Doré PC, Sewell WA, Huissoon A.

Clin Exp Immunol. 2011 Jan;163(1):96-103. doi: 10.1111/j.1365-2249.2010.04280.x. Epub 2010 Nov 9. Review.

9.

Deconstructing common variable immunodeficiency by genetic analysis.

Schäffer AA, Salzer U, Hammarström L, Grimbacher B.

Curr Opin Genet Dev. 2007 Jun;17(3):201-12. Epub 2007 Apr 27. Review.

PMID:
17467261
10.

Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency.

Rae W.

Arch Immunol Ther Exp (Warsz). 2017 Apr;65(2):101-110. doi: 10.1007/s00005-016-0414-x. Epub 2016 Aug 2. Review.

PMID:
27484309
11.

[Common variable immunodeficiency].

Morio T.

Nihon Rinsho. 2012 Nov;70(11):2011-21. Review. Japanese.

PMID:
23214077
12.

Rare variants at 16p11.2 are associated with common variable immunodeficiency.

Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H.

J Allergy Clin Immunol. 2015 Jun;135(6):1569-77. doi: 10.1016/j.jaci.2014.12.1939. Epub 2015 Feb 10.

13.

Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency.

Bacchelli C, Buckridge S, Thrasher AJ, Gaspar HB.

Clin Exp Immunol. 2007 Sep;149(3):401-9. Review.

14.

Somatic Hypermutation Defects in Common Variable Immune Deficiency.

Almejun MB, Borge M.

Curr Allergy Asthma Rep. 2017 Oct 5;17(11):76. doi: 10.1007/s11882-017-0745-7. Review.

PMID:
28983794
15.

Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor.

Sathkumara HD, De Silva NR, Handunnetti S, De Silva AD.

Int J Immunogenet. 2015 Aug;42(4):239-53. doi: 10.1111/iji.12217. Epub 2015 Jun 19. Review.

PMID:
26096648
16.

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.

Guffroy A, Mourot-Cottet R, Gérard L, Gies V, Lagresle C, Pouliet A, Nitschké P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, André-Schmutz I, Korganow AS; DEFI study group.

J Clin Immunol. 2017 Oct;37(7):715-726. doi: 10.1007/s10875-017-0434-2. Epub 2017 Aug 26.

PMID:
28842786
17.

Evaluation of cytokine genetic polymorphisms in adult patients with common variable immunodeficiency: A single-center study.

Perovic D, Perovic V, Pravica V, Bonaci-Nikolic B, Mijanovic R, Bunjevacki V.

Immunol Lett. 2016 Aug;176:97-104. doi: 10.1016/j.imlet.2016.05.005. Epub 2016 Jun 8.

PMID:
27288995
18.

IgH sequences in common variable immune deficiency reveal altered B cell development and selection.

Roskin KM, Simchoni N, Liu Y, Lee JY, Seo K, Hoh RA, Pham T, Park JH, Furman D, Dekker CL, Davis MM, James JA, Nadeau KC, Cunningham-Rundles C, Boyd SD.

Sci Transl Med. 2015 Aug 26;7(302):302ra135. doi: 10.1126/scitranslmed.aab1216.

19.

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, Nugent D, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Csomos K, Rosen L, Browne S, Walter JE, Notarangelo LD, Hill HR, Kumánovics A.

J Clin Immunol. 2015 Feb;35(2):119-24. doi: 10.1007/s10875-014-0121-5. Epub 2014 Dec 17.

20.

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.

Picard C, Fischer A.

Eur J Immunol. 2014 Oct;44(10):2854-61. doi: 10.1002/eji.201444669. Epub 2014 Sep 12. Review.

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