Genetic linkage of hyper-IgE syndrome to chromosome 4

被引:286
作者
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
机构
[1] Natl Human Genome Res Inst, Immunol Genet Sect, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USA
[2] Natl Human Genome Res Inst, Med Genet Branch, NIH, Bethesda, MD 20892 USA
[3] NIAID, Computat Biol Branch, Natl Ctr Biotechnol Informat, NIH, Bethesda, MD 20892 USA
[4] NIAID, Host Def Lab, NIH, Bethesda, MD 20892 USA
[5] Univ Alabama, Dept Pediat, Birmingham, AL USA
[6] Duke Univ, Med Ctr, Dept Pediat & Immunol, Durham, NC USA
[7] Univ S Florida, All Childrens Hosp, Div Clin Immunol & Allergy, St Petersburg, FL 33701 USA
[8] Univ Washington, Dept Pediat, Seattle, WA 98195 USA
[9] Hosp Gen Valle Hebron, Immunol Unit, Barcelona, Spain
[10] Hosp Son Dureta, Dept Immunol, Palma de Mallorca, Spain
[11] Osped Microcitemico, Bone Marrow Transplant Unit, Cagliari, Italy
[12] Tel Aviv Univ, Sackler Fac Med, Schneiders Children Med Ctr Israel, IL-69978 Tel Aviv, Israel
[13] Univ Munich, Dr Von Haunerschen Kinderspital, Sect Infect Dis & Clin Immunol, D-80337 Munich, Germany
[14] Univ Ulm, Sect Infect Dis & Clin Immunol, Ulm, Germany
关键词
D O I
10.1086/302547
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as an autosomal dominant trait with variable expressivity. Nineteen kindreds with multiple cases of HIES were scored for clinical and laboratory findings and were genotyped with polymorphic markers in a candidate region on human chromosome 4. Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES.
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收藏
页码:735 / 744
页数:10
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