A novel IL2RG mutation presenting with atypical T(-)B(+)NK+ phenotype: rapid elucidation of NK cell origin.
Clinical Immunology Unit, Hospital Universitario Reina Sofia, Córdoba, Spain.
Orlando A
OA
Estévez
Consuelo
C
Ortega
Silvia
S
Fernández
Rocio
R
Aguado
José
J
Rumbao
Juan
J
Perez-Navero
Manuel
M
Santamaría
D005260:Female; D006801:Humans; D007223:Infant; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D007694:Killer Cells, Natural / Q000276:immunology*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D053632:X-Linked Combined Immunodeficiency Diseases / Q000097:blood / Q000235:genetics* / Q000276:immunology*
C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit