Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.
Ehlayel
Mohammad
M
de Beaucoudrey
Ludovic
L
Fike
Francesca
F
Nahas
Shareef A
SA
Feinberg
Jacqueline
J
Casanova
Jean-Laurent
JL
Gatti
Richard A
RA
D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000276:immunology; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000276:immunology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000097:blood / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000097:blood / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D008297:Male; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000276:immunology; D053707:Receptors, Interleukin-12 / Q000235:genetics* / Q000276:immunology; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000276:immunology
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases