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Inherited IL-12p40 deficiency: Genetic, immunologic, and clinical features of 49 patients from 30 kindreds

Abstract:

Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift...

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Publisher copy:
10.1097/MD.0b013e31828a01f9

Authors


Samarina, A More by this author
Bustamante, J More by this author
Boisson-Dupuis, S More by this author
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Journal:
Medicine (United States)
Volume:
92
Issue:
2
Pages:
109-122
Publication date:
2013-03-05
DOI:
EISSN:
1536-5964
ISSN:
0025-7974
URN:
uuid:9f7ce341-6c08-4443-ac6b-24c35d79ec79
Source identifiers:
394190
Local pid:
pubs:394190
Language:
English

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