×
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
Combined immunodeficiency
0.450
Biomarker
GENOMICS_ENGLAND
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.
29702748 2019
×
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
Combined immunodeficiency
0.420
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 146206
Gene Symbol: CARMIL2
CARMIL2
Combined immunodeficiency
0.410
Biomarker
GENOMICS_ENGLAND
A human immunodeficiency syndrome caused by mutations in CARMIL2.
28112205 2017
×
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
Combined immunodeficiency
0.400
Biomarker
GENOMICS_ENGLAND
A missense mutation in TFRC , encoding transferrin receptor 1, causes combined immunodeficiency .
26642240 2016
×
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
Combined immunodeficiency
0.400
Biomarker
GENOMICS_ENGLAND
Mutations in dedicator of cytokinesis 8 (DOCK8 ) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES).
25724123 2015
×
Entrez Id: 10892
Gene Symbol: MALT1
MALT1
Combined immunodeficiency
0.350
Biomarker
GENOMICS_ENGLAND
Our nonconsanguineous patient with early onset profound combined immunodeficiency and immune dysregulation due to compound heterozygous MALT1 mutations extends the clinical and immunologic phenotype reported in 2 prior families.
25627829 2015
×
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
Combined immunodeficiency
0.340
Biomarker
GENOMICS_ENGLAND
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
24136356 2013
×
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
Combined immunodeficiency
0.330
Biomarker
GENOMICS_ENGLAND
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.
26560041 2016
×
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
Combined immunodeficiency
0.330
Biomarker
GENOMICS_ENGLAND
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
24417819 2014
×
Entrez Id: 84433
Gene Symbol: CARD11
CARD11
Combined immunodeficiency
0.320
Biomarker
GENOMICS_ENGLAND
Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.
25352053 2015
×
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1
Combined immunodeficiency
0.320
Biomarker
GENOMICS_ENGLAND
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
20004786 2009
×
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
Combined immunodeficiency
0.320
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 4860
Gene Symbol: PNP
PNP
Combined immunodeficiency
0.320
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
Combined immunodeficiency
0.320
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 939
Gene Symbol: CD27
CD27
Combined immunodeficiency
0.310
Biomarker
GENOMICS_ENGLAND
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
25843314 2015
×
Entrez Id: 6789
Gene Symbol: STK4
STK4
Combined immunodeficiency
0.310
Biomarker
GENOMICS_ENGLAND
Mst1/Mst2 regulate development and function of regulatory T cells through modulation of Foxo1/Foxo3 stability in autoimmune disease.
24453252 2014
×
Entrez Id: 3551
Gene Symbol: IKBKB
IKBKB
Combined immunodeficiency
0.310
Biomarker
GENOMICS_ENGLAND
Immunodeficiency associated with a nonsense mutation of IKBKB.
25216719 2014
×
Entrez Id: 3932
Gene Symbol: LCK
LCK
Combined immunodeficiency
0.310
Biomarker
GENOMICS_ENGLAND
Defect of lck in a patient with common variable immunodeficiency.
11351273 2001
×
Entrez Id: 79840
Gene Symbol: NHEJ1
NHEJ1
Combined immunodeficiency
0.310
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 29851
Gene Symbol: ICOS
ICOS
Combined immunodeficiency
0.300
Biomarker
GENOMICS_ENGLAND
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
29226301 2018
×
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
Combined immunodeficiency
0.300
Biomarker
GENOMICS_ENGLAND
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.
29564582 2018
×
Entrez Id: 4478
Gene Symbol: MSN
MSN
Combined immunodeficiency
0.300
Biomarker
GENOMICS_ENGLAND
Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
29556235 2018
×
Entrez Id: 970
Gene Symbol: CD70
CD70
Combined immunodeficiency
0.300
Biomarker
GENOMICS_ENGLAND
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.
29434583 2017
×
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
Combined immunodeficiency
0.300
Biomarker
GENOMICS_ENGLAND
STAT5B deficiency: Impacts on human growth and immunity.
26703237 2016
×
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
Combined immunodeficiency
0.300
Biomarker
GENOMICS_ENGLAND
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
25842288 2015