MCID: IMM179
MIFTS: 29

Immunodeficiency 31c

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

Aliases & Classifications for Immunodeficiency 31c

MalaCards integrated aliases for Immunodeficiency 31c:

Name: Immunodeficiency 31c 57 75 29 6
Candidiasis, Familial, 7 57 75 13 73
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant 57 75
Imd31c 57 75
Candf7 57 75
Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome 59
Immunodeficiency, Type 31c, Autosomal Dominant ) 40
Immunodeficiency 31c, Autosomal Dominant 57
Chronic Mucocutaneous Candidiasis 7 75
Candidiasis, Familial, 7; Candf7 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood


HPO:

32
immunodeficiency 31c:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Immunodeficiency 31c

OMIM : 57 Immunodeficiency-31C is an autosomal dominant disorder of immunologic dysregulation with highly variable manifestations. 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)

MalaCards based summary : Immunodeficiency 31c, also known as candidiasis, familial, 7, is related to candidiasis, familial, 6. An important gene associated with Immunodeficiency 31c is STAT1 (Signal Transducer And Activator Of Transcription 1). Affiliated tissues include skin, heart and t cells, and related phenotypes are osteopenia and encephalitis

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 candidiasis, familial, 6 11.1

Symptoms & Phenotypes for Immunodeficiency 31c

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent respiratory infections

Growth Height:
short stature (in some patients)

Skin Nails Hair Nails:
candidiasis

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

Head And Neck Mouth:
candidiasis, recurrent, chronic

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

Laboratory Abnormalities:
aberrant gamma-interferon-mediated inflammation

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

Growth Other:
poor growth (in some patients)

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

Human phenotypes related to Immunodeficiency 31c:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 occasional (7.5%) Frequent (79-30%) HP:0000938
2 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
3 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 59 32 occasional (7.5%) Very frequent (99-80%) HP:0004322
5 delayed puberty 59 32 occasional (7.5%) Frequent (79-30%) HP:0000823
6 type i diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0100651
7 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
8 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
9 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
10 recurrent upper respiratory tract infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002788
11 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
12 thyroiditis 59 32 frequent (33%) Frequent (79-30%) HP:0100646
13 lymphopenia 59 32 Frequent (79-30%) HP:0001888
14 diarrhea 59 32 occasional (7.5%) Frequent (79-30%) HP:0002014
15 eczema 59 32 occasional (7.5%) Frequent (79-30%) HP:0000964
16 renovascular hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0100817
17 b lymphocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0010976
18 bronchiectasis 59 32 frequent (33%) Frequent (79-30%) HP:0002110
19 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
20 autoimmune hemolytic anemia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001890
21 autoimmune thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001973
22 autoimmune neutropenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001904
23 patent foramen ovale 59 32 occasional (7.5%) Occasional (29-5%) HP:0001655
24 villous atrophy 59 32 occasional (7.5%) Frequent (79-30%) HP:0011473
25 functional abnormality of the bladder 59 32 hallmark (90%) Very frequent (99-80%) HP:0000009
26 generalized osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0040160
27 renal artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001920
28 chronic mucocutaneous candidiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002728
29 antiphospholipid antibody positivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003613
30 primary hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0000832
31 oropharyngeal squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012182
32 immune dysregulation 59 32 frequent (33%) Frequent (79-30%) HP:0002958
33 enterocolitis 59 32 frequent (33%) Frequent (79-30%) HP:0004387
34 susceptibility to herpesvirus 59 32 frequent (33%) Frequent (79-30%) HP:0005353
35 recurrent aspergillus infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002724
36 medial calcification of large arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0004966
37 esophageal carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0011459
38 abnormal serum interferon-gamma level 59 32 occasional (7.5%) Occasional (29-5%) HP:0030355
39 diabetes mellitus 32 occasional (7.5%) HP:0000819
40 hypothyroidism 32 occasional (7.5%) HP:0000821
41 recurrent respiratory infections 32 HP:0002205
42 growth delay 59 Very frequent (99-80%)
43 thrombocytopenia 59 Occasional (29-5%)
44 abnormality of the endocrine system 59 Frequent (79-30%)
45 recurrent infections 59 Frequent (79-30%)
46 decrease in t cell count 59 Excluded (0%)
47 abnormality of the intestine 59 Very frequent (99-80%)
48 cerebral aneurysm 59 Frequent (79-30%)
49 inflammatory abnormality of the skin 59 Frequent (79-30%)
50 carotid artery aneurysm 59 Frequent (79-30%)

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

Anatomical Context for Immunodeficiency 31c

MalaCards organs/tissues related to Immunodeficiency 31c:

41
Skin, Heart, T Cells, Thyroid, B Cells

Publications for Immunodeficiency 31c

Variations for Immunodeficiency 31c

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

75 (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

ClinVar genetic disease variations for Immunodeficiency 31c:

6
(show top 50) (show all 75)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT1 NM_007315.3(STAT1): c.820C> T (p.Arg274Trp) single nucleotide variant Pathogenic rs387906758 GRCh37 Chromosome 2, 191859911: 191859911
2 STAT1 NM_007315.3(STAT1): c.820C> T (p.Arg274Trp) single nucleotide variant Pathogenic rs387906758 GRCh38 Chromosome 2, 190995185: 190995185
3 STAT1 NM_007315.3(STAT1): c.800C> T (p.Ala267Val) single nucleotide variant Pathogenic rs387906759 GRCh37 Chromosome 2, 191859931: 191859931
4 STAT1 NM_007315.3(STAT1): c.800C> T (p.Ala267Val) single nucleotide variant Pathogenic rs387906759 GRCh38 Chromosome 2, 190995205: 190995205
5 STAT1 NM_007315.3(STAT1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs387906760 GRCh37 Chromosome 2, 191859910: 191859910
6 STAT1 NM_007315.3(STAT1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs387906760 GRCh38 Chromosome 2, 190995184: 190995184
7 STAT1 NM_007315.3(STAT1): c.857A> T (p.Lys286Ile) single nucleotide variant Pathogenic rs387906761 GRCh37 Chromosome 2, 191859874: 191859874
8 STAT1 NM_007315.3(STAT1): c.857A> T (p.Lys286Ile) single nucleotide variant Pathogenic rs387906761 GRCh38 Chromosome 2, 190995148: 190995148
9 STAT1 NM_007315.3(STAT1): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs387906762 GRCh37 Chromosome 2, 191862972: 191862972
10 STAT1 NM_007315.3(STAT1): c.604A> G (p.Met202Val) single nucleotide variant Pathogenic rs387906762 GRCh38 Chromosome 2, 190998246: 190998246
11 STAT1 NM_007315.3(STAT1): c.520T> C (p.Cys174Arg) single nucleotide variant Pathogenic rs387906763 GRCh37 Chromosome 2, 191864373: 191864373
12 STAT1 NM_007315.3(STAT1): c.520T> C (p.Cys174Arg) single nucleotide variant Pathogenic rs387906763 GRCh38 Chromosome 2, 190999647: 190999647
13 STAT1 NM_007315.3(STAT1): c.494A> G (p.Asp165Gly) single nucleotide variant Pathogenic rs387906764 GRCh37 Chromosome 2, 191864399: 191864399
14 STAT1 NM_007315.3(STAT1): c.494A> G (p.Asp165Gly) single nucleotide variant Pathogenic rs387906764 GRCh38 Chromosome 2, 190999673: 190999673
15 STAT1 NM_007315.3(STAT1): c.862A> G (p.Thr288Ala) single nucleotide variant Pathogenic rs387906765 GRCh37 Chromosome 2, 191859869: 191859869
16 STAT1 NM_007315.3(STAT1): c.862A> G (p.Thr288Ala) single nucleotide variant Pathogenic rs387906765 GRCh38 Chromosome 2, 190995143: 190995143
17 STAT1 NM_007315.3(STAT1): c.508T> A (p.Tyr170Asn) single nucleotide variant Pathogenic rs387906766 GRCh37 Chromosome 2, 191864385: 191864385
18 STAT1 NM_007315.3(STAT1): c.508T> A (p.Tyr170Asn) single nucleotide variant Pathogenic rs387906766 GRCh38 Chromosome 2, 190999659: 190999659
19 STAT1 NM_007315.3(STAT1): c.493G> C (p.Asp165His) single nucleotide variant Pathogenic rs387906767 GRCh37 Chromosome 2, 191864400: 191864400
20 STAT1 NM_007315.3(STAT1): c.493G> C (p.Asp165His) single nucleotide variant Pathogenic rs387906767 GRCh38 Chromosome 2, 190999674: 190999674
21 STAT1 STAT1, MET202ILE undetermined variant Pathogenic
22 STAT1 NM_007315.3(STAT1): c.812A> C (p.Gln271Pro) single nucleotide variant Pathogenic rs387906768 GRCh37 Chromosome 2, 191859919: 191859919
23 STAT1 NM_007315.3(STAT1): c.812A> C (p.Gln271Pro) single nucleotide variant Pathogenic rs387906768 GRCh38 Chromosome 2, 190995193: 190995193
24 STAT1 NM_007315.3(STAT1): c.537C> A (p.Asn179Lys) single nucleotide variant Pathogenic rs587777628 GRCh37 Chromosome 2, 191864356: 191864356
25 STAT1 NM_007315.3(STAT1): c.537C> A (p.Asn179Lys) single nucleotide variant Pathogenic rs587777628 GRCh38 Chromosome 2, 190999630: 190999630
26 STAT1 NM_007315.3(STAT1): c.854A> G (p.Gln285Arg) single nucleotide variant Pathogenic rs587777629 GRCh37 Chromosome 2, 191859877: 191859877
27 STAT1 NM_007315.3(STAT1): c.854A> G (p.Gln285Arg) single nucleotide variant Pathogenic rs587777629 GRCh38 Chromosome 2, 190995151: 190995151
28 STAT1 NM_007315.3(STAT1): c.1154C> T (p.Thr385Met) single nucleotide variant Pathogenic rs587777630 GRCh37 Chromosome 2, 191851647: 191851647
29 STAT1 NM_007315.3(STAT1): c.1154C> T (p.Thr385Met) single nucleotide variant Pathogenic rs587777630 GRCh38 Chromosome 2, 190986921: 190986921
30 STAT1 NM_007315.3(STAT1): c.820C> G (p.Arg274Gly) single nucleotide variant Pathogenic rs387906758 GRCh38 Chromosome 2, 190995185: 190995185
31 STAT1 NM_007315.3(STAT1): c.820C> G (p.Arg274Gly) single nucleotide variant Pathogenic rs387906758 GRCh37 Chromosome 2, 191859911: 191859911
32 STAT1 NM_007315.3(STAT1): c.832A> G (p.Lys278Glu) single nucleotide variant Pathogenic rs863223398 GRCh37 Chromosome 2, 191859899: 191859899
33 STAT1 NM_007315.3(STAT1): c.832A> G (p.Lys278Glu) single nucleotide variant Pathogenic rs863223398 GRCh38 Chromosome 2, 190995173: 190995173
34 STAT1 NM_007315.3(STAT1): c.1151G> A (p.Gly384Asp) single nucleotide variant Pathogenic rs796065052 GRCh38 Chromosome 2, 190986924: 190986924
35 STAT1 NM_007315.3(STAT1): c.1151G> A (p.Gly384Asp) single nucleotide variant Pathogenic rs796065052 GRCh37 Chromosome 2, 191851650: 191851650
36 STAT1 NM_007315.3(STAT1): c.1097+10C> G single nucleotide variant Benign/Likely benign rs41488044 GRCh37 Chromosome 2, 191854331: 191854331
37 STAT1 NM_007315.3(STAT1): c.1097+10C> G single nucleotide variant Benign/Likely benign rs41488044 GRCh38 Chromosome 2, 190989605: 190989605
38 STAT1 NM_007315.3(STAT1): c.633+6T> A single nucleotide variant Benign/Likely benign rs45459703 GRCh37 Chromosome 2, 191862937: 191862937
39 STAT1 NM_007315.3(STAT1): c.633+6T> A single nucleotide variant Benign/Likely benign rs45459703 GRCh38 Chromosome 2, 190998211: 190998211
40 STAT1 NM_007315.3(STAT1): c.1155G> A (p.Thr385=) single nucleotide variant Benign/Likely benign rs41270237 GRCh38 Chromosome 2, 190986920: 190986920
41 STAT1 NM_007315.3(STAT1): c.1155G> A (p.Thr385=) single nucleotide variant Benign/Likely benign rs41270237 GRCh37 Chromosome 2, 191851646: 191851646
42 STAT1 NM_007315.3(STAT1): c.796G> A (p.Val266Ile) single nucleotide variant Likely benign rs41473544 GRCh37 Chromosome 2, 191859935: 191859935
43 STAT1 NM_007315.3(STAT1): c.796G> A (p.Val266Ile) single nucleotide variant Likely benign rs41473544 GRCh38 Chromosome 2, 190995209: 190995209
44 STAT1 NM_007315.3(STAT1): c.1866C> T (p.Asn622=) single nucleotide variant Likely benign rs112108750 GRCh38 Chromosome 2, 190978863: 190978863
45 STAT1 NM_007315.3(STAT1): c.1866C> T (p.Asn622=) single nucleotide variant Likely benign rs112108750 GRCh37 Chromosome 2, 191843589: 191843589
46 STAT1 NM_007315.3(STAT1): c.1263+7G> A single nucleotide variant Likely benign rs56228116 GRCh38 Chromosome 2, 190985612: 190985612
47 STAT1 NM_007315.3(STAT1): c.1263+7G> A single nucleotide variant Likely benign rs56228116 GRCh37 Chromosome 2, 191850338: 191850338
48 STAT1 NM_007315.3(STAT1): c.1116T> C (p.Asn372=) single nucleotide variant Benign/Likely benign rs55891000 GRCh37 Chromosome 2, 191851776: 191851776
49 STAT1 NM_007315.3(STAT1): c.1116T> C (p.Asn372=) single nucleotide variant Benign/Likely benign rs55891000 GRCh38 Chromosome 2, 190987050: 190987050
50 STAT1 NM_007315.3(STAT1): c.990G> A (p.Gln330=) single nucleotide variant Benign/Likely benign rs41509946 GRCh37 Chromosome 2, 191856001: 191856001

Expression for Immunodeficiency 31c

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

Pathways for Immunodeficiency 31c

GO Terms for Immunodeficiency 31c

Sources for Immunodeficiency 31c

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