[Severe combined immunodeficiencies: a case of adenosine-deaminase deficit].
Severe combined immunodeficiencies (SCID) are a group of rare genetic disorders characterized by profoundly defective T lymphocyte. We described in a two months old male a case of SCID with ADA deficiency. With this new case report we summarize recent developments in immunodeficiencies therapy, aiming to induce to bear in mind this disorder, despite its rarity, in differential diagnosis of infections, particularly respiratory or gastrointestinal infections.
Macellaro
P
P
Unità Operativa di Pediatria,Ospedale Civile, Legnano. pat.mac@libero.it
Savarino
A
A
Cucchi
G
G
Lazzati
A
A
Zuccotti
G V
GV
D000243:Adenosine Deaminase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000201:enzymology* / Q000628:therapy
D000243:Adenosine Deaminase