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Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Abstract:

Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral immune deficiency and features of autoimmunity shared genotype evidence for a linkage interval on chrom...

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Publisher copy:
10.1016/j.ajhg.2012.04.015

Authors


Lopez-Herrera, G More by this author
Tampella, G More by this author
Pan-Hammarström, Q More by this author
Herholz, P More by this author
Trujillo-Vargas, CM More by this author
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Journal:
American Journal of Human Genetics
Volume:
90
Issue:
6
Pages:
986-1001
Publication date:
2012-06-08
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:b5619793-c846-460f-9ce3-62f1345de392
Source identifiers:
340106
Local pid:
pubs:340106
Language:
English

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