IMD38
MCID: IMM187
MIFTS: 34

Immunodeficiency 38 with Basal Ganglia Calcification (IMD38)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 38 with Basal Ganglia Calcification

MalaCards integrated aliases for Immunodeficiency 38 with Basal Ganglia Calcification:

Name: Immunodeficiency 38 with Basal Ganglia Calcification 57 12 29 6
Immunodeficiency 38 57 12 29 15
Immunodeficiency 38, Mycobacteriosis, Autosomal Recessive 57 12 72
Imd38 57 12 72
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Isg15 Deficiency 12 58
Immunodeficiency 38, with Basal Ganglia Calcification 72 70
Isg15 Deficiency, Autosomal Recessive 57 72
Msmd Due to Complete Isg15 Deficiency 58
Autosomal Recessive Isg15 Deficiency 12
Immunodeficiency, Type 38 39

Characteristics:

Orphanet epidemiological data:

58
mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

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

Miscellaneous:
based on report of 2 iranian siblings, 1 turkish patient, and 1 chinese family (last curated october 2017)


HPO:

31
immunodeficiency 38 with basal ganglia calcification:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111934
OMIM® 57 616126
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA319563
UMLS 70 C4015293

Summaries for Immunodeficiency 38 with Basal Ganglia Calcification

UniProtKB/Swiss-Prot : 72 Immunodeficiency 38, with basal ganglia calcification: A primary immunodeficiency predisposing individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines. Patients are also susceptible to Salmonella and Mycobacterium tubercolosis infections. Affected individuals have intracranial calcification.

MalaCards based summary : Immunodeficiency 38 with Basal Ganglia Calcification, also known as immunodeficiency 38, is related to systemic lupus erythematosus and myositis. An important gene associated with Immunodeficiency 38 with Basal Ganglia Calcification is ISG15 (ISG15 Ubiquitin Like Modifier), and among its related pathways/superpathways is Telomere C-strand (Lagging Strand) Synthesis. Related phenotypes are lymphadenopathy and seizure

Disease Ontology : 12 A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has material basis in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33.

OMIM® : 57 IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015). (616126) (Updated 05-Apr-2021)

Related Diseases for Immunodeficiency 38 with Basal Ganglia Calcification

Graphical network of the top 20 diseases related to Immunodeficiency 38 with Basal Ganglia Calcification:



Diseases related to Immunodeficiency 38 with Basal Ganglia Calcification

Symptoms & Phenotypes for Immunodeficiency 38 with Basal Ganglia Calcification

Human phenotypes related to Immunodeficiency 38 with Basal Ganglia Calcification:

31
# Description HPO Frequency HPO Source Accession
1 lymphadenopathy 31 very rare (1%) HP:0002716
2 seizure 31 very rare (1%) HP:0001250
3 immunodeficiency 31 HP:0002721
4 recurrent mycobacterial infections 31 HP:0011274
5 basal ganglia calcification 31 HP:0002135

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
normal psychomotor development
basal ganglia calcifications
seizures (in one patient)
calcification along the cerebral falx

Skin Nails Hair Skin:
necrotic skin ulcers (in 1 patient)

Head And Neck Face:
herpetic lesions (in 1 patient)

Immunology:
susceptibility to mycobacterial disease
lymphadenopathy subsequent to bcg vaccination
lymphadenitis subsequent to bcg vaccination (in 1 patient)
no severe viral infections

Clinical features from OMIM®:

616126 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 38 with Basal Ganglia Calcification

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 38 with Basal Ganglia Calcification

Genetic Tests for Immunodeficiency 38 with Basal Ganglia Calcification

Genetic tests related to Immunodeficiency 38 with Basal Ganglia Calcification:

# Genetic test Affiliating Genes
1 Immunodeficiency 38 with Basal Ganglia Calcification 29 ISG15
2 Immunodeficiency 38 29

Anatomical Context for Immunodeficiency 38 with Basal Ganglia Calcification

Publications for Immunodeficiency 38 with Basal Ganglia Calcification

Articles related to Immunodeficiency 38 with Basal Ganglia Calcification:

# Title Authors PMID Year
1
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. 57 6
25307056 2015
2
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. 6 57
22859821 2012
3
Autosomal Recessive ISG15 Deficiency Underlies Type I Interferonopathy with Systemic Lupus Erythematosus and Inflammatory Myositis. 61
33742321 2021
4
Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report. 61
32944031 2020

Variations for Immunodeficiency 38 with Basal Ganglia Calcification

ClinVar genetic disease variations for Immunodeficiency 38 with Basal Ganglia Calcification:

6 (show all 48)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ISG15 NM_005101.4(ISG15):c.379G>T (p.Glu127Ter) SNV Pathogenic 161454 rs672601312 GRCh37: 1:949739-949739
GRCh38: 1:1014359-1014359
2 ISG15 NM_005101.4(ISG15):c.163C>T (p.Gln55Ter) SNV Pathogenic 183381 rs786201005 GRCh37: 1:949523-949523
GRCh38: 1:1014143-1014143
3 ISG15 NM_005101.4(ISG15):c.339dup (p.Leu114fs) Duplication Pathogenic 161455 rs672601345 GRCh37: 1:949696-949697
GRCh38: 1:1014316-1014317
4 ISG15 NM_005101.4(ISG15):c.4-1G>A SNV Pathogenic 1028857 GRCh37: 1:949363-949363
GRCh38: 1:1013983-1013983
5 ISG15 NM_005101.4(ISG15):c.17C>A (p.Thr6Lys) SNV Uncertain significance 1035971 GRCh37: 1:949377-949377
GRCh38: 1:1013997-1013997
6 ISG15 NM_005101.4(ISG15):c.355G>A (p.Asp119Asn) SNV Uncertain significance 1036426 GRCh37: 1:949715-949715
GRCh38: 1:1014335-1014335
7 ISG15 NM_005101.4(ISG15):c.482_483insCGTGCC (p.Gly162_Gly163insValPro) Insertion Uncertain significance 1038082 GRCh37: 1:949839-949840
GRCh38: 1:1014459-1014460
8 ISG15 NM_005101.4(ISG15):c.400C>T (p.Gln134Ter) SNV Uncertain significance 1039103 GRCh37: 1:949760-949760
GRCh38: 1:1014380-1014380
9 ISG15 NM_005101.4(ISG15):c.73G>T (p.Val25Leu) SNV Uncertain significance 1042671 GRCh37: 1:949433-949433
GRCh38: 1:1014053-1014053
10 ISG15 NM_005101.4(ISG15):c.347G>T (p.Gly116Val) SNV Uncertain significance 1042776 GRCh37: 1:949707-949707
GRCh38: 1:1014327-1014327
11 ISG15 NM_005101.4(ISG15):c.313G>A (p.Ala105Thr) SNV Uncertain significance 1047697 GRCh37: 1:949673-949673
GRCh38: 1:1014293-1014293
12 ISG15 NM_005101.4(ISG15):c.67A>G (p.Met23Val) SNV Uncertain significance 639487 rs374095998 GRCh37: 1:949427-949427
GRCh38: 1:1014047-1014047
13 ISG15 NM_005101.4(ISG15):c.442G>A (p.Val148Met) SNV Uncertain significance 658718 rs202194159 GRCh37: 1:949802-949802
GRCh38: 1:1014422-1014422
14 ISG15 NM_005101.4(ISG15):c.463C>T (p.Arg155Trp) SNV Uncertain significance 953283 GRCh37: 1:949823-949823
GRCh38: 1:1014443-1014443
15 ISG15 NM_005101.4(ISG15):c.142C>T (p.His48Tyr) SNV Uncertain significance 542074 rs150861311 GRCh37: 1:949502-949502
GRCh38: 1:1014122-1014122
16 ISG15 NM_005101.4(ISG15):c.199C>T (p.Pro67Ser) SNV Uncertain significance 542075 rs1553169766 GRCh37: 1:949559-949559
GRCh38: 1:1014179-1014179
17 ISG15 NM_005101.4(ISG15):c.294_295inv (p.Arg99Trp) Inversion Uncertain significance 969834 GRCh37: 1:949654-949655
GRCh38: 1:1014274-1014275
18 ISG15 NM_005101.4(ISG15):c.242C>T (p.Pro81Leu) SNV Uncertain significance 655870 rs764675171 GRCh37: 1:949602-949602
GRCh38: 1:1014222-1014222
19 ISG15 NM_005101.4(ISG15):c.302C>T (p.Thr101Met) SNV Uncertain significance 858156 GRCh37: 1:949662-949662
GRCh38: 1:1014282-1014282
20 ISG15 NM_005101.4(ISG15):c.446T>C (p.Phe149Ser) SNV Uncertain significance 941178 GRCh37: 1:949806-949806
GRCh38: 1:1014426-1014426
21 ISG15 NM_005101.4(ISG15):c.31G>A (p.Ala11Thr) SNV Uncertain significance 942967 GRCh37: 1:949391-949391
GRCh38: 1:1014011-1014011
22 ISG15 NM_005101.4(ISG15):c.112G>A (p.Val38Met) SNV Uncertain significance 950193 GRCh37: 1:949472-949472
GRCh38: 1:1014092-1014092
23 ISG15 NM_005101.4(ISG15):c.358G>A (p.Asp120Asn) SNV Uncertain significance 1011331 GRCh37: 1:949718-949718
GRCh38: 1:1014338-1014338
24 ISG15 NM_005101.4(ISG15):c.472G>A (p.Gly158Ser) SNV Uncertain significance 651310 rs139357483 GRCh37: 1:949832-949832
GRCh38: 1:1014452-1014452
25 ISG15 NM_005101.4(ISG15):c.151G>A (p.Gly51Ser) SNV Uncertain significance 957804 GRCh37: 1:949511-949511
GRCh38: 1:1014131-1014131
26 ISG15 NM_005101.4(ISG15):c.491G>A (p.Arg164Gln) SNV Uncertain significance 1017805 GRCh37: 1:949851-949851
GRCh38: 1:1014471-1014471
27 ISG15 NM_005101.4(ISG15):c.463dup (p.Arg155fs) Duplication Uncertain significance 1020899 GRCh37: 1:949822-949823
GRCh38: 1:1014442-1014443
28 ISG15 NM_005101.4(ISG15):c.383G>A (p.Gly128Glu) SNV Uncertain significance 1021524 GRCh37: 1:949743-949743
GRCh38: 1:1014363-1014363
29 ISG15 NM_005101.4(ISG15):c.310G>A (p.Val104Met) SNV Uncertain significance 1023883 GRCh37: 1:949670-949670
GRCh38: 1:1014290-1014290
30 ISG15 NM_005101.4(ISG15):c.4-6C>A SNV Uncertain significance 967439 GRCh37: 1:949358-949358
GRCh38: 1:1013978-1013978
31 ISG15 NM_005101.4(ISG15):c.275G>A (p.Arg92His) SNV Uncertain significance 571208 rs368865539 GRCh37: 1:949635-949635
GRCh38: 1:1014255-1014255
32 ISG15 NM_005101.4(ISG15):c.131G>A (p.Arg44His) SNV Uncertain significance 659187 rs148041041 GRCh37: 1:949491-949491
GRCh38: 1:1014111-1014111
33 ISG15 NM_005101.4(ISG15):c.296G>A (p.Arg99Gln) SNV Uncertain significance 568195 rs374404353 GRCh37: 1:949656-949656
GRCh38: 1:1014276-1014276
34 ISG15 NC_000001.11:g.(?_1013554)_(1014498_?)dup Duplication Uncertain significance 831631 GRCh37: 1:948934-949878
GRCh38:
35 ISG15 NC_000001.11:g.(?_1013554)_(1014498_?)del Deletion Uncertain significance 833098 GRCh37: 1:948934-949878
GRCh38:
36 ISG15 NM_005101.4(ISG15):c.247_255del (p.Ser83_Leu85del) Deletion Uncertain significance 915424 GRCh37: 1:949604-949612
GRCh38: 1:1014224-1014232
37 ISG15 NM_005101.4(ISG15):c.379G>A (p.Glu127Lys) SNV Uncertain significance 648609 rs672601312 GRCh37: 1:949739-949739
GRCh38: 1:1014359-1014359
38 ISG15 NM_005101.4(ISG15):c.158C>T (p.Ala53Val) SNV Uncertain significance 652606 rs146063673 GRCh37: 1:949518-949518
GRCh38: 1:1014138-1014138
39 ISG15 NM_005101.4(ISG15):c.271G>A (p.Gly91Ser) SNV Uncertain significance 658311 rs767687872 GRCh37: 1:949631-949631
GRCh38: 1:1014251-1014251
40 ISG15 NM_005101.4(ISG15):c.202G>A (p.Gly68Ser) SNV Uncertain significance 661288 rs748078443 GRCh37: 1:949562-949562
GRCh38: 1:1014182-1014182
41 ISG15 NM_005101.4(ISG15):c.32C>T (p.Ala11Val) SNV Uncertain significance 661610 rs950572063 GRCh37: 1:949392-949392
GRCh38: 1:1014012-1014012
42 ISG15 NM_005101.4(ISG15):c.491G>C (p.Arg164Pro) SNV Likely benign 475282 rs140447219 GRCh37: 1:949851-949851
GRCh38: 1:1014471-1014471
43 ISG15 NM_005101.4(ISG15):c.421G>A (p.Gly141Ser) SNV Likely benign 542076 rs138829117 GRCh37: 1:949781-949781
GRCh38: 1:1014401-1014401
44 ISG15 NM_005101.4(ISG15):c.78A>G (p.Ser26=) SNV Benign 740895 rs543999661 GRCh37: 1:949438-949438
GRCh38: 1:1014058-1014058
45 ISG15 NM_005101.4(ISG15):c.477A>G (p.Thr159=) SNV Benign 745342 rs147303161 GRCh37: 1:949837-949837
GRCh38: 1:1014457-1014457
46 ISG15 NM_005101.4(ISG15):c.62G>A (p.Ser21Asn) SNV Benign 475283 rs143888043 GRCh37: 1:949422-949422
GRCh38: 1:1014042-1014042
47 ISG15 NM_005101.4(ISG15):c.471C>T (p.Gly157=) SNV Benign 475281 rs116002608 GRCh37: 1:949831-949831
GRCh38: 1:1014451-1014451
48 ISG15 NM_005101.4(ISG15):c.237C>T (p.Asp79=) SNV Benign 475278 rs61766284 GRCh37: 1:949597-949597
GRCh38: 1:1014217-1014217

Expression for Immunodeficiency 38 with Basal Ganglia Calcification

Search GEO for disease gene expression data for Immunodeficiency 38 with Basal Ganglia Calcification.

Pathways for Immunodeficiency 38 with Basal Ganglia Calcification

Pathways related to Immunodeficiency 38 with Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 RNASEH2C RNASEH2B RNASEH2A

GO Terms for Immunodeficiency 38 with Basal Ganglia Calcification

Cellular components related to Immunodeficiency 38 with Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonuclease H2 complex GO:0032299 8.8 RNASEH2C RNASEH2B RNASEH2A

Biological processes related to Immunodeficiency 38 with Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 8.96 RNASEH2B RNASEH2A
2 RNA catabolic process GO:0006401 8.8 RNASEH2C RNASEH2B RNASEH2A

Molecular functions related to Immunodeficiency 38 with Basal Ganglia Calcification according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA-DNA hybrid ribonuclease activity GO:0004523 8.62 RNASEH2B RNASEH2A

Sources for Immunodeficiency 38 with Basal Ganglia Calcification

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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