Grimbacher B - Search Results

1

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

Li J, Lei WT, Zhang P, Rapaport F, Seeleuthner Y, Lyu B, Asano T, Rosain J, Hammadi B, Zhang Y, Pelham SJ, Spaan AN, Migaud M, Hum D, Bigio B, Chrabieh M, Béziat V, Bustamante J, Zhang SY, Jouanguy E, Boisson-Dupuis S, El Baghdadi J, Aimanianda V, Thoma K, Fliegauf M, Grimbacher B, Korganow AS, Saunders C, Rao VK, Uzel G, Freeman AF, Holland SM, Su HC, Cunningham-Rundles C, Fieschi C, Abel L, Puel A, Cobat A, Casanova JL, Zhang Q, Boisson B. Li J, et al. Among authors: grimbacher b. J Exp Med. 2021 Nov 1;218(11):e20210566. doi: 10.1084/jem.20210566. Epub 2021 Sep 2. J Exp Med. 2021. PMID: 34473196 Free PMC article.

2

The interleukin-4 receptor variant Q576R in hyper-IgE syndrome.

Grimbacher B, Holland SM, Puck JM. Grimbacher B, et al. N Engl J Med. 1998 Apr 9;338(15):1073-4. doi: 10.1056/NEJM199804093381516. N Engl J Med. 1998. PMID: 9537881 No abstract available.

3

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.

Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM. Grimbacher B, et al. N Engl J Med. 1999 Mar 4;340(9):692-702. doi: 10.1056/NEJM199903043400904. N Engl J Med. 1999. PMID: 10053178 Free article.

4

Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.

Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM. Grimbacher B, et al. Genet Med. 1999 Jul-Aug;1(5):213-8. doi: 10.1097/00125817-199907000-00008. Genet Med. 1999. PMID: 11256675 Free article.

5

Immunoglobulin E in primary immunodeficiency diseases.

Grimbacher B, Belohradsky BH, Holland SM. Grimbacher B, et al. Allergy. 2002 Nov;57(11):995-1007. doi: 10.1034/j.1398-9995.2002.02168.x. Allergy. 2002. PMID: 12358995 Review. No abstract available.

6

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

7

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

8

ICOS deficiency in patients with common variable immunodeficiency.

Salzer U, Maul-Pavicic A, Cunningham-Rundles C, Urschel S, Belohradsky BH, Litzman J, Holm A, Franco JL, Plebani A, Hammarstrom L, Skrabl A, Schwinger W, Grimbacher B. Salzer U, et al. Among authors: grimbacher b. Clin Immunol. 2004 Dec;113(3):234-40. doi: 10.1016/j.clim.2004.07.002. Clin Immunol. 2004. PMID: 15507387

9

Hyper-IgE syndromes.

Grimbacher B, Holland SM, Puck JM. Grimbacher B, et al. Immunol Rev. 2005 Feb;203:244-50. doi: 10.1111/j.0105-2896.2005.00228.x. Immunol Rev. 2005. PMID: 15661034 Review.

10

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

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