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IMMUNODEFICIENCY 30
Known as:
IL12RB1 DEFICIENCY
, IMD30
National Institutes of Health
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Related topics
Related topics
2 relations
Autosomal recessive inheritance
IL12RB1, 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
Thaís Louvain de Souza
,
R. C. de Souza Campos Fernandes
,
+11 authors
E. Medina-Acosta
Frontiers in Microbiology
2017
Corpus ID: 3862776
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
I. P. Vogelaar
,
R. S. van der Post
,
+4 authors
E. G. Gómez García
Familial Cancer
2014
Corpus ID: 254513165
IL-12Rβ1 deficiency, also known as immunodeficiency 30 (IMD30, OMIM 614891), is a rare immunodeficiency syndrome caused by…
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