Immunodeficiency

Agammaglobulinemia

Gene name Transcript Clinical sensitivity
PIK3R1 ENST00000521381  
BTK  ENST00000308731  85% [128] 

Autoimmune lymphproliferative syndrome

Gene name Transcript Clinical sensitivity
CTLA4 (CD152) ENST00000302823  

Autoinflammation, antibody deficiency and immune dysregulation syndrome

Gene name Transcript Clinical sensitivity
PLCG2 ENST00000359376  

Candidiasis, familial

Gene name Transcript Clinical sensitivity
CARD9 ENST00000371732  
IL17F ENST00000336123   
IL17RA (IL17R)  ENST00000319363   

Hyper-IgE recurrent infection

Gene name Transcript Clinical sensitivity
DOCK8 ENST00000453981 75% [129
STAT3  ENST00000264657  61 [130] 

Common variable immunodeficiency

Gene name Transcript Clinical sensitivity
BACH2 ENST00000257749  
CARD11  ENST00000396946.4   
CD19 ENST00000538922   
CR2 (CD21)  ENST00000367057   
GATA2  ENST00000487848   
IKZF1    
IL12B (CLMF2/NKSF2)  ENST00000231228   
IL17A  ENST00000340057   
IL21  ENST00000364497   
IL21R  ENST00000337929   
LRBA  ENST00000357115   
MS4A1  ENST00000534668   
NFKB1  ENST00000226574   
NFKB2  ENST00000369966   
PIK3CD  ENST00000377346   
RAG1 ENST00000299440  
RAG2 ENST00000618712  
STAT1 ENST00000361099  
TLR2  ENST00000260010   
TLR3  ENST00000296795   
TLR4  ENST00000355622  
TLR9  ENST00000360658   
TNFRSF13B (TACI) ENST00000261652  
TNFRSF13C (BAFFR) ENST00000291232  

Immunodysregulation, polyendocrinopathy & enteropathy

Gene name Transcript Clinical sensitivity
FOXP3 ENST00000376207  

Susceptibility to Aspergillosis

Gene name Transcript Clinical sensitivity
CLEC7A ENST00000304084  

 


Clinical genetics and genomics laboratory 

Ground floor (level 2), Sydney wing, Royal Brompton Hospital, Sydney Street, London, SW3 6NP

Telephone: +44(0)207 352 8121, ext 83009

Email: rbh-tr.genomics@nhs.net or geneticslab@rbht.nhs.uk 

Opening hours: Monday to Friday, 9am to 5pm

Head of laboratory: Dr Deborah Morris-Rosendahl

Useful documents

Molecular genetic testing request and consent form (pdf, 431KB)

Non-NHS molecular genetic testing request and consent form (pdf, 493KB)

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