IMD31C
MCID: IMM179
MIFTS: 54

Immunodeficiency 31c (IMD31C)

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 31c

MalaCards integrated aliases for Immunodeficiency 31c:

Name: Immunodeficiency 31c 57 12 72 29 6 15
Candidiasis, Familial, 7 57 72 13 70
Imd31c 57 12 72
Candf7 57 12 72
Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome 12 58
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant 57 72
Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant 57
Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis 12
Immunodeficiency, Type 31c, Autosomal Dominant 39
Immunodeficiency 31c, Autosomal Dominant 29
Autosomal Dominant Immunodeficiency 31c 12
Chronic Mucocutaneous Candidiasis 7 72
Candidiasis, Familial, 7; Candf7 57
Familial Candidiasis 7 12

Characteristics:

Orphanet epidemiological data:

58
autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: late childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


HPO:

31
immunodeficiency 31c:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases
Rare immunological diseases


Summaries for Immunodeficiency 31c

OMIM® : 57 IMD31C is disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1 (600555). Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013). (614162) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 31c, also known as candidiasis, familial, 7, is related to candidiasis, familial, 1 and candidiasis, familial, 6. An important gene associated with Immunodeficiency 31c is STAT1 (Signal Transducer And Activator Of Transcription 1), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. Affiliated tissues include heart and b cells, and related phenotypes are delayed skeletal maturation and short stature

Disease Ontology : 12 A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has material basis in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 31C: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

Related Diseases for Immunodeficiency 31c

Diseases related to Immunodeficiency 31c via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 candidiasis, familial, 1 11.5
2 candidiasis, familial, 6 11.2
3 cutaneous candidiasis 10.3 IL2RA AIRE
4 maxillary sinus adenocarcinoma 10.3 STAT1 LRBA
5 esophageal tuberculosis 10.3 LRBA IL2RA
6 autoimmune enteropathy 10.3 IL2RA FOXP3
7 type 1 diabetes mellitus 3 10.3 PTPN22 IL2RA
8 immunodeficiency 63 with lymphoproliferation and autoimmunity 10.2 IL2RA IL2
9 anca-associated vasculitis 10.2 PTPN22 IL2
10 hyper ige recurrent infection syndrome 1 10.2 TYK2 STAT1
11 rheumatoid factor-negative polyarticular juvenile idiopathic arthritis 10.2 PTPN22 PTPN2 IL2RA
12 oligoarticular juvenile idiopathic arthritis 10.2 PTPN22 PTPN2 IL2RA
13 sting-associated vasculopathy with onset in infancy 10.1 STAT1 IFIH1
14 wells syndrome 10.1 IL2RA IL2
15 candidiasis 10.1 STAT1 IL2 AIRE
16 nail disease 10.1 TYK2 STAT1 AIRE
17 tuberculoid leprosy 10.1 IL2RA IL2
18 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.1 IL2RA IL2 FOXP3
19 orchitis 10.1 IL2 FOXP3
20 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1 PTPN22 FOXP3 AIRE
21 t-cell adult acute lymphocytic leukemia 10.1 IL2RA IL2 FOXP3
22 filarial elephantiasis 10.1 IL2 FOXP3
23 immunodeficiency 35 10.1 TYK2 STAT1
24 primary thrombocytopenia 10.1 LRBA IL2 FOXP3
25 opportunistic mycosis 10.1 STAT1 IL2 AIRE
26 autoimmune neuropathy 10.1 FOXP3 CD86
27 fungal infectious disease 10.1 STAT1 IL2 AIRE
28 tropical spastic paraparesis 10.1 IL2RA IL2 FOXP3
29 b cell deficiency 10.1 LRBA IL2 FOXP3
30 omenn syndrome 10.1 LRBA FOXP3 AIRE
31 covid-19 10.1 STAT1 IL2RA IFIH1
32 adult t-cell leukemia 10.1 IL2RA IL2 FOXP3
33 alopecia universalis congenita 10.1 IL2 AIRE
34 sezary's disease 10.1 IL2RA IL2 FOXP3
35 visceral leishmaniasis 10.0 IL2RA IL2 FOXP3
36 polyendocrinopathy 10.0 STAT1 LRBA FOXP3 AIRE
37 cutaneous t cell lymphoma 10.0 STAT1 IL2RA IL2
38 mycosis fungoides 10.0 IL2RA IL2 FOXP3
39 integumentary system disease 10.0 STAT1 IL2 FOXP3
40 primary systemic mycosis 10.0 STAT1 IL2
41 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 PTPN22 IL2 AIRE
42 autoimmune polyendocrine syndrome, type ii 10.0 TNFRSF25 PTPN22 AIRE
43 thymoma 10.0 IL2 FOXP3 AIRE
44 scleral disease 10.0 TNFRSF10A IL2
45 pernicious anemia 10.0 TNFRSF25 PTPN22 AIRE
46 adrenal cortex disease 10.0 TNFRSF25 PTPN22 AIRE
47 hashimoto thyroiditis 10.0 PTPN22 IL2RA FOXP3 AIRE
48 t-cell acute lymphoblastic leukemia 10.0 STAT1 PTPN2 IL2RA IL2
49 autoimmune lymphoproliferative syndrome 9.9 LRBA IL2RA IL2 FOXP3
50 acute graft versus host disease 9.9 IL2RA IL2

Graphical network of the top 20 diseases related to Immunodeficiency 31c:



Diseases related to Immunodeficiency 31c

Symptoms & Phenotypes for Immunodeficiency 31c

Human phenotypes related to Immunodeficiency 31c:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 58 31 occasional (7.5%) Very frequent (99-80%) HP:0004322
3 recurrent upper respiratory tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002788
4 chronic mucocutaneous candidiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002728
5 functional abnormality of the bladder 58 31 hallmark (90%) Very frequent (99-80%) HP:0000009
6 osteopenia 58 31 occasional (7.5%) Frequent (79-30%) HP:0000938
7 delayed puberty 58 31 occasional (7.5%) Frequent (79-30%) HP:0000823
8 type i diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0100651
9 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
10 thyroiditis 58 31 frequent (33%) Frequent (79-30%) HP:0100646
11 renovascular hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0100817
12 eczema 58 31 occasional (7.5%) Frequent (79-30%) HP:0000964
13 diarrhea 58 31 occasional (7.5%) Frequent (79-30%) HP:0002014
14 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
15 bronchiectasis 58 31 frequent (33%) Frequent (79-30%) HP:0002110
16 renal artery stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001920
17 autoimmune hemolytic anemia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001890
18 b lymphocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0010976
19 dilatation of the cerebral artery 58 31 frequent (33%) Frequent (79-30%) HP:0004944
20 primary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000832
21 immune dysregulation 58 31 frequent (33%) Frequent (79-30%) HP:0002958
22 enterocolitis 58 31 frequent (33%) Frequent (79-30%) HP:0004387
23 recurrent herpes 58 31 frequent (33%) Frequent (79-30%) HP:0005353
24 villous atrophy 58 31 occasional (7.5%) Frequent (79-30%) HP:0011473
25 generalized osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0040160
26 carotid artery dilatation 31 frequent (33%) HP:0012163
27 encephalitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002383
28 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
29 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
30 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
31 antiphospholipid antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003613
32 autoimmune thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001973
33 esophageal carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0011459
34 patent foramen ovale 58 31 occasional (7.5%) Occasional (29-5%) HP:0001655
35 neutropenia in presence of anti-neutropil antibodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0001904
36 recurrent aspergillus infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002724
37 medial calcification of large arteries 58 31 occasional (7.5%) Occasional (29-5%) HP:0004966
38 oropharyngeal squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012182
39 abnormal serum interferon-gamma level 58 31 occasional (7.5%) Occasional (29-5%) HP:0030355
40 diabetes mellitus 31 occasional (7.5%) HP:0000819
41 hypothyroidism 31 occasional (7.5%) HP:0000821
42 lymphopenia 58 31 Frequent (79-30%) HP:0001888
43 recurrent respiratory infections 31 HP:0002205
44 growth delay 58 Very frequent (99-80%)
45 thrombocytopenia 58 Occasional (29-5%)
46 abnormality of the endocrine system 58 Frequent (79-30%)
47 recurrent infections 58 Frequent (79-30%)
48 abnormal intestine morphology 58 Very frequent (99-80%)
49 inflammatory abnormality of the skin 58 Frequent (79-30%)
50 carotid artery aneurysm 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
recurrent respiratory infections

Growth Height:
short stature (in some patients)

Abdomen Gastrointestinal:
enteropathy (in some patients)
diarrhea (in some patients)
villous atrophy (in some patients)

Endocrine Features:
hypothyroidism (in some patients)
delayed puberty (in some patients)
diabetes mellitus (in some patients)

Head And Neck Mouth:
candidiasis, recurrent, chronic

Skin Nails Hair Skin:
dermatitis (in some patients)
eczema (in some patients)

Laboratory Abnormalities:
aberrant gamma-interferon-mediated inflammation

Immunology:
immunodeficiency
immune dysregulation
autoimmune disorders (in some patients)
recurrent infections, bacterial, viral, fungal, mycobacterial
disseminated infection with dimorphic fungi (coccidioides and histoplasma)
more
Skeletal:
osteopenia (in some patients)

Skin Nails Hair Nails:
candidiasis

Growth Other:
poor growth (in some patients)

Cardiovascular Vascular:
intracranial aneurysms (in some patients)

Hematology:
autoimmune hemolytic anemia (in some patients)
thrombocytopenia purpura (in some patients)

Clinical features from OMIM®:

614162 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 31c according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 9.02 AIRE CD80 IFIH1 IL2 PTPN2

MGI Mouse Phenotypes related to Immunodeficiency 31c:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 CD80 CD86 FOXP3 IFIH1 IL2 PTPN2
2 endocrine/exocrine gland MP:0005379 10.15 AIRE CD80 CD86 FOXP3 IL2 IL21R
3 hematopoietic system MP:0005397 10.13 AIRE CD80 CD86 FOXP3 IFIH1 IL2
4 growth/size/body region MP:0005378 10.06 AIRE FOXP3 IFIH1 IL2 IL21R IL2RA
5 digestive/alimentary MP:0005381 10.01 AIRE FOXP3 IL2 IL2RA LRBA PTPN2
6 homeostasis/metabolism MP:0005376 9.97 AIRE CD86 FOXP3 IFIH1 IL2 IL21R
7 immune system MP:0005387 9.83 AIRE CD80 CD86 FOXP3 IFIH1 IL2
8 mortality/aging MP:0010768 9.4 AIRE FOXP3 IFIH1 IL2 IL21R IL2RA

Drugs & Therapeutics for Immunodeficiency 31c

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 31c

Genetic Tests for Immunodeficiency 31c

Genetic tests related to Immunodeficiency 31c:

# Genetic test Affiliating Genes
1 Immunodeficiency 31c 29 STAT1
2 Immunodeficiency 31c, Autosomal Dominant 29

Anatomical Context for Immunodeficiency 31c

MalaCards organs/tissues related to Immunodeficiency 31c:

40
Heart, B Cells

Publications for Immunodeficiency 31c

Articles related to Immunodeficiency 31c:

(show all 33)
# Title Authors PMID Year
1
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. 6 57
30317461 2018
2
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. 6 57
29111217 2018
3
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. 6 57
25288569 2014
4
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. 57 6
23709754 2013
5
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. 6 57
23534974 2013
6
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 57 6
23541320 2013
7
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 6 57
21727188 2011
8
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 6 57
21714643 2011
9
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. 57 6
22195034 2011
10
STAT1 Gain of Function, Type 1 Diabetes, and Reversal with JAK Inhibition. 57
33027576 2020
11
An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases. 6
30442829 2019
12
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. 57
30092289 2018
13
Rosacea and demodicidosis associated with gain-of-function mutation in STAT1. 6
28622416 2017
14
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants. 6
28011069 2017
15
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 6
28597685 2017
16
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 6
28258222 2017
17
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. 6
27808400 2017
18
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 6
27577878 2017
19
Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1. 6
27379765 2016
20
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 6
27114460 2016
21
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 6
26743090 2016
22
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. 6
26242301 2016
23
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 6
26604104 2016
24
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). 6
26255980 2015
25
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. 6
26494717 2015
26
Orf Infection in a Patient with Stat1 Gain-of-Function. 6
25367169 2015
27
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
28
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. 6
25042743 2014
29
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. 6
24343863 2014
30
Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. 6
24188975 2014
31
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. 6
24239102 2014
32
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. 6
22847544 2012
33
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 6
22730530 2012

Variations for Immunodeficiency 31c

ClinVar genetic disease variations for Immunodeficiency 31c:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT1 NM_007315.3(STAT1):c.857A>T (p.Lys286Ile) SNV Pathogenic 30086 rs387906761 GRCh37: 2:191859874-191859874
GRCh38: 2:190995148-190995148
2 STAT1 NM_007315.3(STAT1):c.604A>G (p.Met202Val) SNV Pathogenic 30087 rs387906762 GRCh37: 2:191862972-191862972
GRCh38: 2:190998246-190998246
3 STAT1 NM_007315.3(STAT1):c.494A>G (p.Asp165Gly) SNV Pathogenic 30089 rs387906764 GRCh37: 2:191864399-191864399
GRCh38: 2:190999673-190999673
4 STAT1 NM_007315.3(STAT1):c.862A>G (p.Thr288Ala) SNV Pathogenic 30090 rs387906765 GRCh37: 2:191859869-191859869
GRCh38: 2:190995143-190995143
5 STAT1 NM_007315.3(STAT1):c.508T>A (p.Tyr170Asn) SNV Pathogenic 30091 rs387906766 GRCh37: 2:191864385-191864385
GRCh38: 2:190999659-190999659
6 STAT1 NM_007315.3(STAT1):c.493G>C (p.Asp165His) SNV Pathogenic 30092 rs387906767 GRCh37: 2:191864400-191864400
GRCh38: 2:190999674-190999674
7 STAT1 NM_007315.3(STAT1):c.606G>A (p.Met202Ile) SNV Pathogenic 30093 rs1559019204 GRCh37: 2:191862970-191862970
GRCh38: 2:190998244-190998244
8 STAT1 NM_007315.3(STAT1):c.812A>C (p.Gln271Pro) SNV Pathogenic 30094 rs387906768 GRCh37: 2:191859919-191859919
GRCh38: 2:190995193-190995193
9 STAT1 NM_007315.3(STAT1):c.537C>A (p.Asn179Lys) SNV Pathogenic 144004 rs587777628 GRCh37: 2:191864356-191864356
GRCh38: 2:190999630-190999630
10 STAT1 NM_007315.3(STAT1):c.854A>G (p.Gln285Arg) SNV Pathogenic 144005 rs587777629 GRCh37: 2:191859877-191859877
GRCh38: 2:190995151-190995151
11 STAT1 NM_139266.2(STAT1):c.832A>G (p.Lys278Glu) SNV Pathogenic 208141 rs863223398 GRCh37: 2:191859899-191859899
GRCh38: 2:190995173-190995173
12 STAT1 NM_007315.3(STAT1):c.1151G>A (p.Gly384Asp) SNV Pathogenic 208142 rs796065052 GRCh37: 2:191851650-191851650
GRCh38: 2:190986924-190986924
13 STAT1 NM_007315.4(STAT1):c.1165G>C (p.Val389Leu) SNV Pathogenic 804296 rs1574648928 GRCh37: 2:191851636-191851636
GRCh38: 2:190986910-190986910
14 STAT1 NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) SNV Pathogenic 160354 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
15 STAT1 NM_007315.3(STAT1):c.866A>G (p.Tyr289Cys) SNV Pathogenic 541825 rs1553496850 GRCh37: 2:191859865-191859865
GRCh38: 2:190995139-190995139
16 STAT1 NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) Deletion Pathogenic 961842 GRCh37: 2:191855979-191855980
GRCh38: 2:190991253-190991254
17 STAT1 NM_007315.3(STAT1):c.820C>T (p.Arg274Trp) SNV Pathogenic 30083 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
18 STAT1 NM_007315.3(STAT1):c.821G>A (p.Arg274Gln) SNV Pathogenic 30085 rs387906760 GRCh37: 2:191859910-191859910
GRCh38: 2:190995184-190995184
19 STAT1 NM_007315.3(STAT1):c.520T>C (p.Cys174Arg) SNV Pathogenic 30088 rs387906763 GRCh37: 2:191864373-191864373
GRCh38: 2:190999647-190999647
20 STAT1 NM_007315.3(STAT1):c.820C>T (p.Arg274Trp) SNV Pathogenic 30083 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
21 STAT1 NM_007315.3(STAT1):c.821G>A (p.Arg274Gln) SNV Pathogenic 30085 rs387906760 GRCh37: 2:191859910-191859910
GRCh38: 2:190995184-190995184
22 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val) SNV Pathogenic 30084 rs387906759 GRCh37: 2:191859931-191859931
GRCh38: 2:190995205-190995205
23 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met) SNV Pathogenic 144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
24 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val) SNV Pathogenic 30084 rs387906759 GRCh37: 2:191859931-191859931
GRCh38: 2:190995205-190995205
25 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met) SNV Pathogenic 144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
26 STAT1 NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) SNV Likely pathogenic 860546 GRCh37: 2:191851635-191851635
GRCh38: 2:190986909-190986909
27 IL21R NM_181078.3(IL21R):c.563del (p.Leu188fs) Deletion Likely pathogenic 976232 GRCh37: 16:27455918-27455918
GRCh38: 16:27444597-27444597
28 STAT1 NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) SNV Likely pathogenic 965491 GRCh37: 2:191859880-191859880
GRCh38: 2:190995154-190995154
29 STAT1 NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) SNV Likely pathogenic 848283 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
30 STAT1 NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) SNV Likely pathogenic 848760 GRCh37: 2:191859868-191859868
GRCh38: 2:190995142-190995142
31 STAT1 NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) SNV Likely pathogenic 852805 GRCh37: 2:191849073-191849073
GRCh38: 2:190984347-190984347
32 STAT1 NM_007315.3(STAT1):c.970T>C (p.Cys324Arg) SNV Likely pathogenic 643417 rs1574653439 GRCh37: 2:191856021-191856021
GRCh38: 2:190991295-190991295
33 STAT1 NM_007315.3(STAT1):c.970T>C (p.Cys324Arg) SNV Likely pathogenic 643417 rs1574653439 GRCh37: 2:191856021-191856021
GRCh38: 2:190991295-190991295
34 STAT1 NM_007315.3(STAT1):c.1162A>C (p.Lys388Gln) SNV Likely pathogenic 578600 rs1559011859 GRCh37: 2:191851639-191851639
GRCh38: 2:190986913-190986913
35 STAT1 NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) SNV Likely pathogenic 160354 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
36 STAT1 NM_007315.3(STAT1):c.876C>A (p.Asp292Glu) SNV Likely pathogenic 426484 rs1085307649 GRCh37: 2:191859855-191859855
GRCh38: 2:190995129-190995129
37 STAT1 NM_007315.3(STAT1):c.1222-5T>C SNV Conflicting interpretations of pathogenicity 252674 rs191364028 GRCh37: 2:191850391-191850391
GRCh38: 2:190985665-190985665
38 STAT1 NM_007315.3(STAT1):c.796G>A (p.Val266Ile) SNV Conflicting interpretations of pathogenicity 333285 rs41473544 GRCh37: 2:191859935-191859935
GRCh38: 2:190995209-190995209
39 STAT1 NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu) SNV Uncertain significance 1034375 GRCh37: 2:191839620-191839620
GRCh38: 2:190974894-190974894
40 STAT1 NM_007315.4(STAT1):c.2059+5G>A SNV Uncertain significance 1042523 GRCh37: 2:191841561-191841561
GRCh38: 2:190976835-190976835
41 STAT1 NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) SNV Uncertain significance 1046569 GRCh37: 2:191845359-191845359
GRCh38: 2:190980633-190980633
42 STAT1 NM_007315.3(STAT1):c.478A>C (p.Ile160Leu) SNV Uncertain significance 648892 rs371548986 GRCh37: 2:191864415-191864415
GRCh38: 2:190999689-190999689
43 STAT1 NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) SNV Uncertain significance 951668 GRCh37: 2:191845387-191845387
GRCh38: 2:190980661-190980661
44 STAT1 NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) SNV Uncertain significance 959111 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
45 STAT1 NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) SNV Uncertain significance 827741 rs1574657750 GRCh37: 2:191859881-191859881
GRCh38: 2:190995155-190995155
46 STAT1 NM_007315.4(STAT1):c.541+6G>C SNV Uncertain significance 998635 GRCh37: 2:191864346-191864346
GRCh38: 2:190999620-190999620
47 STAT1 NM_007315.3(STAT1):c.1632+6G>A SNV Uncertain significance 333271 rs185216067 GRCh37: 2:191845340-191845340
GRCh38: 2:190980614-190980614
48 STAT1 NM_007315.3(STAT1):c.1757G>A (p.Arg586Gln) SNV Uncertain significance 580685 rs144788879 GRCh37: 2:191843698-191843698
GRCh38: 2:190978972-190978972
49 STAT1 NM_007315.3(STAT1):c.722G>A (p.Arg241Gln) SNV Uncertain significance 333286 rs146273341 GRCh37: 2:191862645-191862645
GRCh38: 2:190997919-190997919
50 STAT1 NM_007315.4(STAT1):c.596T>C (p.Leu199Pro) SNV Uncertain significance 842244 GRCh37: 2:191862980-191862980
GRCh38: 2:190998254-190998254

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 31c:

72 (show all 18)
# Symbol AA change Variation ID SNP ID
1 STAT1 p.Asp165Gly VAR_065934 rs387906764
2 STAT1 p.Asp165His VAR_065935 rs387906767
3 STAT1 p.Tyr170Asn VAR_065936 rs387906766
4 STAT1 p.Cys174Arg VAR_065937 rs387906763
5 STAT1 p.Met202Ile VAR_065938
6 STAT1 p.Met202Val VAR_065939 rs387906762
7 STAT1 p.Ala267Val VAR_065940 rs387906759
8 STAT1 p.Gln271Pro VAR_065941 rs387906768
9 STAT1 p.Arg274Gln VAR_065942 rs387906760
10 STAT1 p.Arg274Trp VAR_065943 rs387906758
11 STAT1 p.Lys286Ile VAR_065944 rs387906761
12 STAT1 p.Thr288Ala VAR_065945 rs387906765
13 STAT1 p.Asn179Lys VAR_075494 rs587777628
14 STAT1 p.Lys278Glu VAR_075495 rs863223398
15 STAT1 p.Gln285Arg VAR_075496 rs587777629
16 STAT1 p.Lys298Asn VAR_075497
17 STAT1 p.Gly384Asp VAR_075498 rs796065052
18 STAT1 p.Thr385Met VAR_075499 rs587777630

Expression for Immunodeficiency 31c

Search GEO for disease gene expression data for Immunodeficiency 31c.

Pathways for Immunodeficiency 31c

Pathways related to Immunodeficiency 31c according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 TYK2 TNFRSF25 STAT1 PTPN22 PTPN2 IL2RA
2
Show member pathways
13.54 TYK2 TNFRSF25 TNFRSF10A IL2RA IL21R IL2
3
Show member pathways
13.4 TYK2 TNFRSF25 TNFRSF10A STAT1 IL2RA IL2
4
Show member pathways
13.27 TNFRSF25 TNFRSF10A STAT1 IL2RA IL2 CD80
5
Show member pathways
13.17 TNFRSF25 TNFRSF10A PTPN22 PTPN2 IL2RA IL2
6
Show member pathways
13.17 TYK2 TNFRSF25 STAT1 PTPN2 IL2RA IL2
7
Show member pathways
13.08 TYK2 TNFRSF10A STAT1 IL2 IFIH1 CD86
8
Show member pathways
12.7 STAT1 IL2RA IL2 FOXP3 CD86 CD80
9
Show member pathways
12.68 TYK2 TNFRSF10A STAT1 IL2RA IL2 IFIH1
10
Show member pathways
12.65 TYK2 STAT1 IL2RA IL21R IL2
11
Show member pathways
12.5 IL2RA IL2 CD86 CD80
12
Show member pathways
12.31 TYK2 STAT1 PTPN2 IL2RA IL21R IL2
13
Show member pathways
12.28 IL2RA IL2 CD86 CD80
14
Show member pathways
12.24 TYK2 STAT1 IL2RA IL21R IL2 FOXP3
15
Show member pathways
12.13 TYK2 STAT1 IL2RA IL2
16
Show member pathways
11.94 STAT1 IL2RA IL2
17
Show member pathways
11.9 STAT1 IL2RA IL2
18 11.89 IL2RA IL2 CD86 CD80
19
Show member pathways
11.86 TYK2 STAT1 IL2RA IL2
20 11.79 TYK2 TNFRSF25 STAT1 PTPN22 PTPN2 IL2RA
21
Show member pathways
11.73 TYK2 STAT1 IL21R CD86 CD80
22
Show member pathways
11.67 IL2RA IL2 FOXP3
23 11.63 PTPN22 CD86 CD80
24
Show member pathways
11.6 TYK2 STAT1 IL2 CD86 CD80
25
Show member pathways
11.59 IL2RA IL2 FOXP3
26 11.51 TYK2 STAT1 IL2RA IL21R IL2
27 11.43 TYK2 CD86 CD80
28
Show member pathways
11.28 IL2RA IL2 FOXP3
29 11.22 IL2RA IL2 CD86 CD80
30 11.02 IL2RA IL2 FOXP3 CD86 CD80
31
Show member pathways
11.01 TYK2 STAT1
32 10.91 TYK2 STAT1

GO Terms for Immunodeficiency 31c

Biological processes related to Immunodeficiency 31c according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10 PTPN22 IL2RA IL2 IFIH1 CD86
2 positive regulation of transcription, DNA-templated GO:0045893 9.98 STAT1 FOXP3 CD86 CD80 AIRE
3 immune response GO:0006955 9.89 IL2RA IL2 CD86 CD80 AIRE
4 cell surface receptor signaling pathway GO:0007166 9.8 TNFRSF25 TNFRSF10A IL2RA CD86 CD80
5 negative regulation of inflammatory response GO:0050728 9.73 PTPN2 IL2RA IL2 FOXP3
6 T cell differentiation GO:0030217 9.65 PTPN22 PTPN2 IL2
7 positive regulation of interleukin-4 production GO:0032753 9.62 FOXP3 CD86
8 negative regulation of T cell receptor signaling pathway GO:0050860 9.61 PTPN22 PTPN2
9 natural killer cell activation GO:0030101 9.61 IL21R IL2
10 positive regulation of T cell differentiation GO:0045582 9.59 IL2RA IL2
11 negative regulation of immune response GO:0050777 9.58 IL2RA FOXP3
12 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.57 STAT1 PTPN2
13 positive regulation of regulatory T cell differentiation GO:0045591 9.56 IL2 FOXP3
14 positive regulation of T cell proliferation GO:0042102 9.56 IL2RA IL2 CD86 CD80
15 interleukin-27-mediated signaling pathway GO:0070106 9.55 TYK2 STAT1
16 interleukin-2-mediated signaling pathway GO:0038110 9.54 IL2RA IL2
17 positive regulation of interferon-alpha production GO:0032727 9.54 STAT1 PTPN22 IFIH1
18 negative regulation of T-helper 17 cell differentiation GO:2000320 9.52 IL2 FOXP3
19 interleukin-21-mediated signaling pathway GO:0038114 9.51 STAT1 IL21R
20 regulation of regulatory T cell differentiation GO:0045589 9.5 IL2RA IL2 FOXP3
21 regulation of T cell homeostatic proliferation GO:0046013 9.46 IL2RA IL2
22 negative regulation of T cell proliferation GO:0042130 9.46 IL2RA FOXP3 CD86 CD80
23 cytokine-mediated signaling pathway GO:0019221 9.43 TYK2 STAT1 IL2RA IL2 CD86 CD80
24 negative regulation of lymphocyte proliferation GO:0050672 8.8 IL2RA IL2 FOXP3

Molecular functions related to Immunodeficiency 31c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 TYK2 TNFRSF25 TNFRSF10A STAT1 PTPN22 PTPN2
2 non-membrane spanning protein tyrosine phosphatase activity GO:0004726 8.62 PTPN22 PTPN2

Sources for Immunodeficiency 31c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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