Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
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… Expand
  • table 1
  • figure 1
  • table 2
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE