Associated Papers
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes.
Wang C et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2025
41248676 (PubMed )
Supplement: ciaf637_supplementary_data.zip › IL12RB1_supplements__CW_20251105_.docx
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J et al.
Journal of Clinical Immunology, 2018
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E et al.
Human Mutation, 2013
Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain.
Haerynck F et al.
The Journal of Pediatrics, 2008
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