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Genetic linkage of hyper-IgE syndrome to chromosome 4.

Abstract：

: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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

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

doi

10.1086/302547

subject

Has Abstract

pub_date

1999-09-01 00:00:00

pages

735-44

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62325-8

journal_volume

65

pub_type

杂志文章

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