Immunogenetics (21 genes)

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Full name:	Immunogenetics (21 genes)
Created:	22 Sep 2020 - 09:06
Changed:	22 Sep 2020 - 09:24

Related Diseases

• Activated PI3K-delta syndrome
• Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
• Autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune polyendocrinopathy type 1
• Autosomal agammaglobulinemia
• Autosomal dominant hyper-IgE syndrome
• Chronic granulomatous disease
• Combined immunodeficiency with facio-oculo-skeletal anomalies
• Deafness-lymphedema-leukemia syndrome
• Diamond-Blackfan anemia
• Hyper-IgM syndrome type 3
• Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
• Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
• Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
• Monocytopenia with susceptibility to infections
• Primary biliary cholangitis
• STAT3-related early-onset multisystem autoimmune disease
• Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
• T-B+ severe combined immunodeficiency due to gamma chain deficiency
• WHIM syndrome
• Wiskott-Aldrich syndrome
• X-linked agammaglobulinemia
• X-linked hyper-IgM syndrome
• X-linked lymphoproliferative disease
• X-linked lymphoproliferative disease due to SH2D1A deficiency
• X-linked lymphoproliferative disease due to XIAP deficiency
• X-linked severe congenital neutropenia
• X-linked thrombocytopenia with normal platelets

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ADA2
AIRE
BTK
CD40
CD40LG
CTLA4
CXCR4
CYBB
FAS
FASLG
FOXP3
GATA2
IL12RB1
IL2RG
PIK3CD
PIK3R1
SH2D1A
STAT1
STAT3
WAS
XIAP