Search on: CANALE SMITH SYNDROME 
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Descriptor English:   Autoimmune Lymphoproliferative Syndrome 
Descriptor Spanish:   síndrome linfoproliferativo autoinmunitario 
Descriptor Portuguese:   Síndrome Linfoproliferativa Autoimune 
Synonyms English:   Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
Autoimmune Lymphoproliferative Syndrome, Type IIb
Autoimmune Lymphoproliferative Syndromes
Canale Smith Syndrome
Canale-Smith Syndrome
Canale-Smith Syndromes
Caspase 8 Deficiencies
Caspase 8 Deficiency
Caspase-8 Deficiencies
Caspase-8 Deficiency
Deficiencies, Caspase 8
Deficiencies, Caspase-8
Deficiency, Caspase 8
Deficiency, Caspase-8
Lymphoproliferative Syndrome, Autoimmune
Lymphoproliferative Syndromes, Autoimmune
Syndrome, Autoimmune Lymphoproliferative
Syndrome, Canale Smith
Syndrome, Canale-Smith
Syndromes, Autoimmune Lymphoproliferative
Syndromes, Canale-Smith  
Tree Number:   C15.604.515.138
C16.320.089
C20.111.288
C20.683.515.124
Definition English:   Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY. 
See Related English:   Caspase 10
Caspase 8
Glucocorticoid-Induced TNFR-Related Protein
fas Receptor
 
History Note English:   2010 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53551 
Unique Identifier:   D056735 

Occurrence in VHL:
 

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