Grimbacher B - Search Results

1

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. Dorjbal B, et al. Among authors: grimbacher b. J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28. J Allergy Clin Immunol. 2019. PMID: 30170123 Free PMC article.

2

Genetic linkage of hyper-IgE syndrome to chromosome 4.

Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM. Grimbacher B, et al. Am J Hum Genet. 1999 Sep;65(3):735-44. doi: 10.1086/302547. Am J Hum Genet. 1999. PMID: 10441580 Free PMC article.

3

An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.

Atkinson TP, Schäffer AA, Grimbacher B, Schroeder HW Jr, Woellner C, Zerbe CS, Puck JM. Atkinson TP, et al. Among authors: grimbacher b. Am J Hum Genet. 2001 Oct;69(4):791-803. doi: 10.1086/323611. Epub 2001 Aug 21. Am J Hum Genet. 2001. PMID: 11517424 Free PMC article.

4

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

5

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

6

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.

Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B. Renner ED, et al. Among authors: grimbacher b. J Pediatr. 2004 Jan;144(1):93-9. doi: 10.1016/S0022-3476(03)00449-9. J Pediatr. 2004. PMID: 14722525

7

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.

8

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

9

TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency.

Salzer U, Grimbacher B. Salzer U, et al. Among authors: grimbacher b. Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):496-503. doi: 10.1097/01.all.0000191887.89773.cc. Curr Opin Allergy Clin Immunol. 2005. PMID: 16264328 Review.

10

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.

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