IMD38
MCID: IMM187
MIFTS: 24

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 56 29 6
Immunodeficiency 38, Mycobacteriosis, Autosomal Recessive 56 73
Immunodeficiency 38, with Basal Ganglia Calcification 73 71
Isg15 Deficiency, Autosomal Recessive 56 73
Immunodeficiency 38 56 29
Imd38 56 73
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Isg15 Deficiency 58
Msmd Due to Complete Isg15 Deficiency 58
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:

56
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:

OMIM 56 616126
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA319563
UMLS 71 C4015293

Summaries for Immunodeficiency 38 with Basal Ganglia Calcification

UniProtKB/Swiss-Prot : 73 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, is also known as immunodeficiency 38, mycobacteriosis, autosomal recessive. An important gene associated with Immunodeficiency 38 with Basal Ganglia Calcification is ISG15 (ISG15 Ubiquitin Like Modifier). Affiliated tissues include bone and skin, and related phenotypes are seizures and lymphadenopathy

OMIM : 56 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)

Related Diseases for 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 seizures 31 very rare (1%) HP:0001250
2 lymphadenopathy 31 very rare (1%) HP:0002716
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:

56
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

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

MalaCards organs/tissues related to Immunodeficiency 38 with Basal Ganglia Calcification:

40
Bone, Skin

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. 56 6
25307056 2015
2
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. 56 6
22859821 2012

Variations for Immunodeficiency 38 with Basal Ganglia Calcification

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

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ISG15 NM_005101.4(ISG15):c.379G>T (p.Glu127Ter)SNV Pathogenic 161454 rs672601312 1:949739-949739 1:1014359-1014359
2 ISG15 NM_005101.4(ISG15):c.339dup (p.Leu114fs)duplication Pathogenic 161455 rs672601345 1:949696-949697 1:1014316-1014317
3 ISG15 NM_005101.4(ISG15):c.163C>T (p.Gln55Ter)SNV Pathogenic 183381 rs786201005 1:949523-949523 1:1014143-1014143
4 ISG15 NM_005101.4(ISG15):c.199C>T (p.Pro67Ser)SNV Uncertain significance 542075 rs1553169766 1:949559-949559 1:1014179-1014179
5 ISG15 NM_005101.4(ISG15):c.142C>T (p.His48Tyr)SNV Uncertain significance 542074 rs150861311 1:949502-949502 1:1014122-1014122
6 ISG15 NM_005101.4(ISG15):c.275G>A (p.Arg92His)SNV Uncertain significance 571208 rs368865539 1:949635-949635 1:1014255-1014255
7 ISG15 NM_005101.4(ISG15):c.296G>A (p.Arg99Gln)SNV Uncertain significance 568195 rs374404353 1:949656-949656 1:1014276-1014276
8 ISG15 NM_005101.4(ISG15):c.32C>T (p.Ala11Val)SNV Uncertain significance 661610 1:949392-949392 1:1014012-1014012
9 ISG15 NM_005101.4(ISG15):c.67A>G (p.Met23Val)SNV Uncertain significance 639487 1:949427-949427 1:1014047-1014047
10 ISG15 NM_005101.4(ISG15):c.131G>A (p.Arg44His)SNV Uncertain significance 659187 1:949491-949491 1:1014111-1014111
11 ISG15 NM_005101.4(ISG15):c.158C>T (p.Ala53Val)SNV Uncertain significance 652606 1:949518-949518 1:1014138-1014138
12 ISG15 NM_005101.4(ISG15):c.202G>A (p.Gly68Ser)SNV Uncertain significance 661288 1:949562-949562 1:1014182-1014182
13 ISG15 NM_005101.4(ISG15):c.242C>T (p.Pro81Leu)SNV Uncertain significance 655870 1:949602-949602 1:1014222-1014222
14 ISG15 NM_005101.4(ISG15):c.271G>A (p.Gly91Ser)SNV Uncertain significance 658311 1:949631-949631 1:1014251-1014251
15 ISG15 NM_005101.4(ISG15):c.379G>A (p.Glu127Lys)SNV Uncertain significance 648609 1:949739-949739 1:1014359-1014359
16 ISG15 NM_005101.4(ISG15):c.442G>A (p.Val148Met)SNV Uncertain significance 658718 1:949802-949802 1:1014422-1014422
17 ISG15 NM_005101.4(ISG15):c.472G>A (p.Gly158Ser)SNV Uncertain significance 651310 1:949832-949832 1:1014452-1014452
18 ISG15 NM_005101.4(ISG15):c.421G>A (p.Gly141Ser)SNV Likely benign 542076 rs138829117 1:949781-949781 1:1014401-1014401

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

GO Terms for Immunodeficiency 38 with Basal Ganglia Calcification

Sources for Immunodeficiency 38 with Basal Ganglia Calcification

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....