MCID: IMM187
MIFTS: 19

Immunodeficiency 38 with Basal Ganglia Calcification

Categories: Genetic diseases, Bone diseases, Blood diseases, Rare diseases, Immune 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 29 6
Immunodeficiency 38, Mycobacteriosis, Autosomal Recessive 57 75
Immunodeficiency 38, with Basal Ganglia Calcification 75 73
Isg15 Deficiency, Autosomal Recessive 57 75
Imd38 57 75
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Isg15 Deficiency 59
Msmd Due to Complete Isg15 Deficiency 59
Immunodeficiency, Type 38 40
Immunodeficiency 38 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 38 with basal ganglia calcification:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616126
Orphanet 59 ORPHA319563
ICD10 via Orphanet 34 D84.8
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 234532001
UMLS 73 C4015293

Summaries for Immunodeficiency 38 with Basal Ganglia Calcification

UniProtKB/Swiss-Prot : 75 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 skin and bone, and related phenotypes are immunodeficiency and recurrent mycobacterial infections

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)

Related Diseases for Immunodeficiency 38 with Basal Ganglia Calcification

Symptoms & Phenotypes for Immunodeficiency 38 with Basal Ganglia Calcification

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
herpetic lesions (in 1 patient)

Neurologic Central Nervous System:
basal ganglia calcifications
calcification along the cerebral falx
seizures (in one patient)
normal psychomotor development

Skin Nails Hair Skin:
necrotic skin ulcers (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

Human phenotypes related to Immunodeficiency 38 with Basal Ganglia Calcification:

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 recurrent mycobacterial infections 32 HP:0011274

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

Anatomical Context for Immunodeficiency 38 with Basal Ganglia Calcification

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

41
Skin, Bone

Publications for Immunodeficiency 38 with Basal Ganglia Calcification

Variations for Immunodeficiency 38 with Basal Ganglia Calcification

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

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ISG15 NM_005101.3(ISG15): c.379G> T (p.Glu127Ter) single nucleotide variant Pathogenic rs672601312 GRCh37 Chromosome 1, 949739: 949739
2 ISG15 NM_005101.3(ISG15): c.379G> T (p.Glu127Ter) single nucleotide variant Pathogenic rs672601312 GRCh38 Chromosome 1, 1014359: 1014359
3 ISG15 NM_005101.3(ISG15): c.339dupG (p.Leu114Alafs) duplication Pathogenic rs672601345 GRCh37 Chromosome 1, 949699: 949699
4 ISG15 NM_005101.3(ISG15): c.339dupG (p.Leu114Alafs) duplication Pathogenic rs672601345 GRCh38 Chromosome 1, 1014319: 1014319
5 ISG15 NM_005101.3(ISG15): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs786201005 GRCh38 Chromosome 1, 1014143: 1014143
6 ISG15 NM_005101.3(ISG15): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs786201005 GRCh37 Chromosome 1, 949523: 949523
7 ISG15 NM_005101.3(ISG15): c.471C> T (p.Gly157=) single nucleotide variant Benign rs116002608 GRCh38 Chromosome 1, 1014451: 1014451
8 ISG15 NM_005101.3(ISG15): c.471C> T (p.Gly157=) single nucleotide variant Benign rs116002608 GRCh37 Chromosome 1, 949831: 949831
9 ISG15 NM_005101.3(ISG15): c.62G> A (p.Ser21Asn) single nucleotide variant Benign rs143888043 GRCh38 Chromosome 1, 1014042: 1014042
10 ISG15 NM_005101.3(ISG15): c.62G> A (p.Ser21Asn) single nucleotide variant Benign rs143888043 GRCh37 Chromosome 1, 949422: 949422
11 ISG15 NM_005101.3(ISG15): c.491G> C (p.Arg164Pro) single nucleotide variant Likely benign rs140447219 GRCh37 Chromosome 1, 949851: 949851
12 ISG15 NM_005101.3(ISG15): c.491G> C (p.Arg164Pro) single nucleotide variant Likely benign rs140447219 GRCh38 Chromosome 1, 1014471: 1014471
13 ISG15 NM_005101.3(ISG15): c.237C> T (p.Asp79=) single nucleotide variant Benign rs61766284 GRCh38 Chromosome 1, 1014217: 1014217
14 ISG15 NM_005101.3(ISG15): c.237C> T (p.Asp79=) single nucleotide variant Benign rs61766284 GRCh37 Chromosome 1, 949597: 949597
15 ISG15 NM_005101.3(ISG15): c.421G> A (p.Gly141Ser) single nucleotide variant Likely benign rs138829117 GRCh37 Chromosome 1, 949781: 949781
16 ISG15 NM_005101.3(ISG15): c.421G> A (p.Gly141Ser) single nucleotide variant Likely benign rs138829117 GRCh38 Chromosome 1, 1014401: 1014401
17 ISG15 NM_005101.3(ISG15): c.199C> T (p.Pro67Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 949559: 949559
18 ISG15 NM_005101.3(ISG15): c.199C> T (p.Pro67Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1014179: 1014179
19 ISG15 NM_005101.3(ISG15): c.142C> T (p.His48Tyr) single nucleotide variant Uncertain significance rs150861311 GRCh38 Chromosome 1, 1014122: 1014122
20 ISG15 NM_005101.3(ISG15): c.142C> T (p.His48Tyr) single nucleotide variant Uncertain significance rs150861311 GRCh37 Chromosome 1, 949502: 949502

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

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10 dbSNP
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17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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