title: Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents.
authors.forename: David A
authors.initials: DA
authors.lastname: Gruenberg
authors.forename: Stephanie
authors.initials: S
authors.lastname: Añover-Sombke
authors.forename: James E
authors.initials: JE
authors.lastname: Gern
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: Sergio D
authors.initials: SD
authors.lastname: Rosenzweig
authors.forename: Troy R
authors.initials: TR
authors.lastname: Torgerson
authors.forename: Christine M
authors.initials: CM
authors.lastname: Seroogy
mesh_terms: D018389:Codon, Nonsense; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D053711:Interleukin-12 Receptor beta 1 Subunit / Q000172:deficiency / Q000235:genetics; D015269:Mycobacterium avium Complex; D015270:Mycobacterium avium-intracellulare Infection / Q000235:genetics / Q000276:immunology / Q000382:microbiology; D011008:Pneumococcal Infections / Q000235:genetics / Q000276:immunology / Q000382:microbiology*; D018805:Sepsis / Q000235:genetics / Q000276:immunology / Q000382:microbiology; D013296:Streptococcus pneumoniae; D014481:United States
chemical_list: D018389:Codon, Nonsense; D053711:Interleukin-12 Receptor beta 1 Subunit