Search on: SEVERE COMBINED IMMUNODEFICIENCY 
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Descriptor English:   Severe Combined Immunodeficiency 
Descriptor Spanish:   Inmunodeficiencia Combinada Grave 
Descriptor Portuguese:   Imunodeficiência Combinada Severa 
Synonyms English:   Immunodeficiency, Severe Combined
Omenn Syndrome
Bare Lymphocyte Syndrome  
Tree Number:   C16.614.815
C18.452.284.800
C20.673.815
Definition English:   Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID). 
History Note English:   1992 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   29820 
Unique Identifier:   D016511 

Occurrence in VHL:
 

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