| 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) |
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 online syndrome descriptions
published by GeneTests.org. |
