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IMMUNODEFICIENCY 30

Known as: IL12RB1 DEFICIENCY, IMD30 
National Institutes of Health

Related topics

Related topics

2 relations
Autosomal recessive inheritanceIL12RB1, 3-BP DEL, EX10

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression
Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) exhibit variable vulnerability to infections by… 
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2014
2014
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation
IL-12Rβ1 deficiency, also known as immunodeficiency 30 (IMD30, OMIM 614891), is a rare immunodeficiency syndrome caused by… 
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