Correlagen Diagnostics Logo
Upper Lower Corner Blank Image Upper Right Corner
Blank Image
 

Immunology

 

Syndrome Further Information Gene (alias) (Syndrome)
Autoimmune Disease or Chronic Mucocutaneous Candidiasis (CMC)

AIRE
B-Cell Deficiencies

• Hyper IgM Syndrome (HIGM)
• X-linked Agammaglobulinemia (XLA)
• Common Variable Immunodeficiency (CVID)

For guidance in selection of B-cell deficiency gene tests, please refer to the "Diagnostic Algorithm" link.

CD40LG (TNFSF5) (HIGM1)
AICDA (HIGM2)
CD40 (TNFRSF5) (HIGM3)
UNG (HIGM5)
BTK (XLA)
TNFRSF13B(TACI) (CVID)
Chronic Granulomatous Disease (CGD)
CYBB (X-CGD) 
Familial Mediterranean Fever
MEFV
Hyper IgE Syndrome (HIES)
STAT3 
Hypohydrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
IKBKG (NEMO) (HED-ID)  
Interferon-γ Receptor Deficiency (IFNGRD)
(Familial Atypical Mycobacteriosis)

IFNGR1 (IFNGRD)
IFNGR2 (IFNGRD)

Severe Combined Immunodeficiency (SCID)
including Omenn Syndrome (SCID/OS), RS-SCID (or SCIDA), and Zap-70 Deficiency

For guidance in selection of SCID gene tests, please refer to the "Diagnostic Algorithm" link.

IL2RG (T-B+NK- SCID) (XSCID)
JAK3 (T-B+NK- SCID)
ADA (T-B-NK- SCID)
RAG1 [T-B-NK+ SCID or SCID/OS (T+)]
RAG2 [T-B-NK+ SCID or SCID/OS (T+)]
DCLRE1C (ARTEMIS) [T-B-NK+ SCID (RS-SCID or SCIDA) or SCID/OS (T+)]
IL7R [T-B+NK+ SCID or SCID/OS (T+)]
CD3D (T-B+NK+ SCID)
CD3E (T-B+NK+ SCID)
ZAP70 (T+(CD4+CD8-)B+NK+SCID; Zap-70 deficiency)
Wiskott-Aldrich Syndrome (WAS) WAS (WAS)
X-linked Lymphoproliferative Disease (XLP) SH2D1A (XLP)
     

*GeneReviews are expert-authored disease reviews made available online by GeneTests.org.

Additional Information:

 

 

 
Blank Image
Blank Image Lower Right Corner
 
Blank Image