The hyper-IgE syndrome is not caused by a microdeletion syndrome

Immunogenetics

Volumn 59, Issue 12, 2007, Pages 913-926

  Pfeifer, Dietmar ^a   Woellner, Cristina ^a   Petersen, Astrid ^a   Pietrogrande, Maria Cristina ^b   Franco, Josè Luis ^c   Yeganeh, Mehdi ^d   Ehl, Stephan ^a   Matamoros, Nuria ^e   Sprecher, Eli ^f   Puck, Jennifer M ^g   Veelken, Hendrik ^a   Grimbacher, Bodo ^a,h  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^f RAMBAM MEDICAL CENTER   (Israel)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Hyper IgE syndrome; Microdeletion syndrome; PEPD; Primary Immunodeficiency; Prolidase D; SNP chip analysis

Indexed keywords

PROLINE DIPEPTIDASE;

ALLELE; ARTICLE; CHROMOSOME 20P; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; HYPERIMMUNOGLOBULINEMIA E; MALE; MICRODELETION SYNDROME; PEPD GENE; PHENOTYPE; PRIORITY JOURNAL; PROLINE DIPEPTIDASE DEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN; DIPEPTIDASES; FEMALE; GENE DOSAGE; HOMOZYGOTE; HUMANS; IMMUNOGLOBULIN E; JOB'S SYNDROME; MALE; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 36849046349     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00251-007-0257-z     Document Type: Article

References (20)

1. Bignell GR, Huang J, Greshock J, Watt S, Butler A, West S, Grigorova M, Jones KW, Wei W, Stratton MR, Futreal PA, Weber B, Shapero MH, Wooster R (2004) High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res 14:287-295
2. International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437:1299-1320
3. Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH (2006) Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med 8:417-427
4. Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI, Puck JM (1999a) Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med 1:213-218
5. Grimbacher B Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM (1999b) Hyper-IgE syndrome with recurrent infections-an autosomal dominant multisystem disorder. N Engl J Med 340:692-702
6. Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Espanol T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM (1999c) Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65:735-744
7. Grimbacher B, Holland SM, Puck JM (2005) Hyper-IgE syndromes. Immunol Rev 203:244-250
8. Holland SM, Deleo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schaffer AA, Puck JM, Grimbacher B (2007) STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 357:1608-1619
9. Huang J, Wei W, Zhang J, Liu G, Bignell GR, Stratton MR, Futreal PA, Wooster R, Jones KW, Shapero MH (2004) Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genomics 1:287-299
10. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C (2004) Detection of large-scale variation in the human genome. Nat Genet 36:949-951
11. Komura D, Shen F, Ishikawa S, Fitch KR, Chen W, Zhang J, Liu G, Ihara S, Nakamura H, Hurles ME, Lee C, Scherer SW, Jones KW, Shapero MH, Huang J, Aburatani H (2006) Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res 16:1575-1584
12. Meyer-Lindenberg A, Mervis CB, Berman KF (2006) Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci 7:380-393
13. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho FOhishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H (2006) Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 25:745-755
14. Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Ariga T, Pasic S, Stojkovic O, Metin A, Karasuyama H (2007) Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448:1058-1062
15. Pfeifer D, Pantic M, Skatulla I, Rawluk J, Kreutz C, Martens UM, Fisch P, Timmer J, Veelken H (2007) Genome-wide analysis of DNA copy number changes and LOH in CLL using high-density SNP arrays. Blood 109:1202-1210
16. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME (2006) Global variation in copy number in the human genome. Nature 444:444-454
17. Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B (2004) Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 144:93-99
18. Webb BT, van den Oord E, Akkari A, Wilton S, Ly T, Duff R, Barnes KC, Carlsen K, Gerritsen J, Lenney W, Silverman M, Sly P, Sundy J, Tsanakas J, von Berg A, Whyte M, Blumenthal M, Vestbo J, Middleton L, Helms PJ, Anderson WH, Pillai SG (2007) Quantitative linkage genome scan for atopy in a large collection of Caucasian families. Hum Genet 121:83-92
19. Wurdak H Ittner LM, Sommer L (2006) DiGeorge syndrome and pharyngeal apparatus development. Bioessays 28:1078-1086
20. Zhao X, Li C, Paez JG, Chin K, Janne PA, Chen TH, Girard L, Minna J, Christiani D, Leo C, Gray JW, Sellers WR, Meyerson M (2004) An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res 64:3060-3071