Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

Polly J Ferguson; Susan H Blanton; Frank T Saulsbury; Marcia J McDuffie; Vanessa Lemahieu; Julie M Gastier; Uta Francke; Stephen M Borowitz; James L Sutphen; Thaddeus E Kelly

doi:10.1002/(SICI)1096-8628(20000228)90:5<390::AID-AJMG9>3.0.CO;2-M

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Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

Journal article

Peer reviewed

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

Polly J Ferguson, Susan H Blanton, Frank T Saulsbury, Marcia J McDuffie, Vanessa Lemahieu, Julie M Gastier, Uta Francke, Stephen M Borowitz, James L Sutphen and Thaddeus E Kelly

American journal of medical genetics, Vol.90(5), pp.390-397

02/28/2000

DOI: 10.1002/(SICI)1096-8628(20000228)90:5<390::AID-AJMG9>3.0.CO;2-M

PMID: 10706361

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Abstract

The clinical findings of a kindred with an X-linked disorder are characterized by autoimmune polyendocrinopathy, enteropathy with villous atrophy, chronic dermatitis, and variable immunodeficiency. Linkage analysis was performed on 20 members of the affected kindred to determine the location of the responsible locus. Informative recombinations limited the region to an approximate 20 cM interval bordered by DXS1055 and DXS1196/DXS1050. Multipoint analysis generated a lod score >3 for the region contained between DXS8024 and DXS8031. The candidate region includes the Wiskott-Aldrich syndrome (WAS) locus. Evaluation of the Wiskott-Aldrich syndrome protein gene by single strand conformational analysis, heteroduplex analysis, and direct sequencing of the 12 exons in an affected male and two carrier females revealed no abnormalities. We conclude that this kindred has an X-linked disorder, distinct from WAS, that results in autoimmunity and variable immunodeficiency. The responsible locus maps to the pericentromeric region Xp11.23 to Xq21.1.

Autoimmunity

celiac disease

Wiskott‐Aldrich syndrome

polyendocrinopathy

immunodeficiency syndrome

X chromosome

Details

Title: Subtitle: Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome
Creators: Polly J Ferguson
Susan H Blanton
Frank T Saulsbury
Marcia J McDuffie
Vanessa Lemahieu
Julie M Gastier
Uta Francke
Stephen M Borowitz
James L Sutphen
Thaddeus E Kelly
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.90(5), pp.390-397
DOI: 10.1002/(SICI)1096-8628(20000228)90:5<390::AID-AJMG9>3.0.CO;2-M
PMID: 10706361
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: John Wiley & Sons, Inc; New York
Number of pages: 8
Grant note: University of Virginia Children's Medical Center Howard Hughes Medical Institute Juvenile Diabetes Foundation International
Language: English
Date published: 02/28/2000
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology
Record Identifier: 9984065833902771

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