| Syndrome |
Further Information |
Gene (alias) (Syndrome) |
Autoimmune Disease or Chronic Mucocutaneous Candidiasis (CMC)
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AIRE
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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)
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CYBB (X-CGD)
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Hypohydrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
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IKBKG (NEMO) (HED-ID)
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Interferon-γ Receptor Deficiency (IFNGRD)
(Familial Atypical Mycobacteriosis)
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IFNGR1 (IFNGRD)
IFNGR2 (IFNGRD)
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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.
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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)
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Wiskott-Aldrich Syndrome (WAS)
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WAS (WAS)
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X-linked Lymphoproliferative Disease (XLP)
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SH2D1A (XLP)
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*GeneReviews are online syndrome descriptions published by GeneTests.org.
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