IMD70
MCID: IMM227
MIFTS: 20

Immunodeficiency 70 (IMD70)

Categories: Cardiovascular diseases, Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 70

MalaCards integrated aliases for Immunodeficiency 70:

Name: Immunodeficiency 70 57 12 73 6
Imd70 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
variable phenotype
onset in childhood or young adulthood
three unrelated patients have been reported (last curated july 2020)

Inheritance:
autosomal dominant


HPO:

31
immunodeficiency 70:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112005
OMIM® 57 618969
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
MedGen 41 CN283303

Summaries for Immunodeficiency 70

OMIM® : 57 Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020). (618969) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 70, is also known as imd70. An important gene associated with Immunodeficiency 70 is IVNS1ABP (Influenza Virus NS1A Binding Protein). Affiliated tissues include t cells and b cells, and related phenotypes are decreased circulating total igm and b lymphocytopenia

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has material basis in heterozygous mutation in IVNS1ABP on chromosome 1q25.3.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 70: A primary immunodeficiency clinically characterized by human papillomavirus-associated warts on the hands, feet and face, recurrent bacterial infections, and autoinflammatory features, such as colitis, celiac disease, and retinal vasculitis. Immunologic workup shows decreased CD4+ T cells, decreased CD19+ B cells, and hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with incomplete penetrance.

Related Diseases for Immunodeficiency 70

Symptoms & Phenotypes for Immunodeficiency 70

Human phenotypes related to Immunodeficiency 70:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 decreased circulating total igm 31 very rare (1%) HP:0002850
2 b lymphocytopenia 31 very rare (1%) HP:0010976
3 decreased circulating total iga 31 very rare (1%) HP:0003460
4 decreased circulating total igg 31 very rare (1%) HP:0032132
5 decreased proportion of cd4-positive helper t cells 31 very rare (1%) HP:0005407
6 immunodeficiency 31 HP:0002721
7 celiac disease 31 HP:0002608
8 achalasia 31 HP:0002571
9 chronic fatigue 31 HP:0012432
10 verrucae 31 HP:0200043
11 colitis 31 HP:0002583
12 recurrent sinusitis 31 HP:0011108
13 retinal vasculitis 31 HP:0025188
14 furuncle 31 HP:0020083
15 palmar warts 31 HP:0033004
16 plantar warts 31 HP:0033005

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Immunology:
immunodeficiency
recurrent infections
low cd4+ t cells
autoinflammation
warts, hpv-associated
more
Abdomen Gastrointestinal:
celiac disease
achalasia
inflammatory colitis

Head And Neck Face:
warts

Head And Neck Eyes:
retinal vasculitis (1 patient)

Respiratory Nasopharynx:
sinusitis

Respiratory Lung:
pneumonia

Skin Nails Hair Skin:
warts
cutaneous boils

Clinical features from OMIM®:

618969 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 70

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 70

Genetic Tests for Immunodeficiency 70

Anatomical Context for Immunodeficiency 70

MalaCards organs/tissues related to Immunodeficiency 70:

40
T Cells, B Cells

Publications for Immunodeficiency 70

Articles related to Immunodeficiency 70:

# Title Authors PMID Year
1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort. 57 6
32499645 2020

Variations for Immunodeficiency 70

ClinVar genetic disease variations for Immunodeficiency 70:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IVNS1ABP NC_000001.10:g.185276239_185287961del Deletion Pathogenic 974682
2 IVNS1ABP NM_006469.5(IVNS1ABP):c.1072C>T (p.Arg358Ter) SNV Pathogenic 974683 1:185270152-185270152 1:185301020-185301020
3 IVNS1ABP NM_006469.5(IVNS1ABP):c.1899G>A (p.Trp633Ter) SNV Pathogenic 974684 1:185267197-185267197 1:185298065-185298065

Expression for Immunodeficiency 70

Search GEO for disease gene expression data for Immunodeficiency 70.

Pathways for Immunodeficiency 70

GO Terms for Immunodeficiency 70

Sources for Immunodeficiency 70

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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