Novel presentation of Omenn syndrome in association with aniridia.
Sheehan
William J
WJ
Delmonte
Ottavia M
OM
Miller
David T
DT
Roberts
Amy E
AE
Bonilla
Francisco A
FA
Morra
Massimo
M
Giliani
Silvia
S
Pai
Sung-Yun
SY
Notarangelo
Luigi D
LD
Oettgen
Hans C
HC
D015783:Aniridia / Q000209:etiology*; D004268:DNA-Binding Proteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000235:genetics*
D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064658:RAG-1 protein