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.
Gruenberg
David A
DA
Añover-Sombke
Stephanie
S
Gern
James E
JE
Holland
Steven M
SM
Rosenzweig
Sergio D
SD
Torgerson
Troy R
TR
Seroogy
Christine M
CM
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
D018389:Codon, Nonsense; D053711:Interleukin-12 Receptor beta 1 Subunit