Grimbacher B - Search Results

1

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schäffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C. Bohn G, et al. Among authors: grimbacher b. Nat Med. 2007 Jan;13(1):38-45. doi: 10.1038/nm1528. Epub 2006 Dec 31. Nat Med. 2007. PMID: 17195838

2

Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.

Braig DU, Schäffer AA, Glocker E, Salzer U, Warnatz K, Peter HH, Grimbacher B. Braig DU, et al. Among authors: grimbacher b. Hum Genet. 2003 Apr;112(4):369-78. doi: 10.1007/s00439-002-0890-4. Epub 2003 Feb 6. Hum Genet. 2003. PMID: 12574940

3

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency.

Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Dräger R, Eibel H, Fischer B, Schäffer AA, Mages HW, Kroczek RA, Peter HH. Grimbacher B, et al. Nat Immunol. 2003 Mar;4(3):261-8. doi: 10.1038/ni902. Epub 2003 Feb 10. Nat Immunol. 2003. PMID: 12577056

4

The genetics of hypogammaglobulinemia.

Grimbacher B, Schäffer AA, Peter HH. Grimbacher B, et al. Curr Allergy Asthma Rep. 2004 Sep;4(5):349-58. doi: 10.1007/s11882-004-0083-4. Curr Allergy Asthma Rep. 2004. PMID: 15283873 Review.

5

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

Salzer U, Chapel HM, Webster AD, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schäffer AA, Hammarström L, Grimbacher B. Salzer U, et al. Among authors: grimbacher b. Nat Genet. 2005 Aug;37(8):820-8. doi: 10.1038/ng1600. Epub 2005 Jul 10. Nat Genet. 2005. PMID: 16007087

6

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.

Schäffer AA, Pfannstiel J, Webster AD, Plebani A, Hammarström L, Grimbacher B. Schäffer AA, et al. Among authors: grimbacher b. Hum Genet. 2006 Feb;118(6):725-9. doi: 10.1007/s00439-005-0101-1. Epub 2005 Nov 22. Hum Genet. 2006. PMID: 16328471 Free PMC article.

7

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schäffer AA, Rathinam C, Köllner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C. Jung J, et al. Among authors: grimbacher b. Blood. 2006 Jul 1;108(1):362-9. doi: 10.1182/blood-2005-11-4377. Epub 2006 Mar 14. Blood. 2006. PMID: 16537806 Free PMC article.

8

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

Finck A, Van der Meer JW, Schäffer AA, Pfannstiel J, Fieschi C, Plebani A, Webster AD, Hammarström L, Grimbacher B. Finck A, et al. Among authors: grimbacher b. Eur J Hum Genet. 2006 Jul;14(7):867-75. doi: 10.1038/sj.ejhg.5201634. Epub 2006 Apr 26. Eur J Hum Genet. 2006. PMID: 16639407

9

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. Klein C, et al. Among authors: grimbacher b. Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24. Nat Genet. 2007. PMID: 17187068

10

Deconstructing common variable immunodeficiency by genetic analysis.

Schäffer AA, Salzer U, Hammarström L, Grimbacher B. Schäffer AA, et al. Among authors: grimbacher b. Curr Opin Genet Dev. 2007 Jun;17(3):201-12. doi: 10.1016/j.gde.2007.04.002. Epub 2007 Apr 27. Curr Opin Genet Dev. 2007. PMID: 17467261 Review.

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