IMD57
MCID: IMM192
MIFTS: 17

Immunodeficiency 57 (IMD57)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 57

MalaCards integrated aliases for Immunodeficiency 57:

Name: Immunodeficiency 57 58 76 6
Imd57 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
three consanguineous middle eastern families have been reported (last curated september 2018)


Classifications:



Summaries for Immunodeficiency 57

UniProtKB/Swiss-Prot : 76 Immunodeficiency 57: An autosomal recessive primary immunodeficiency characterized by lymphopenia and recurrent viral, bacterial, and fungal infections. Patients exhibit early-onset inflammatory bowel disease involving the upper and lower gastrointestinal tract, and develop progressive polyarthritis.

MalaCards based summary : Immunodeficiency 57, is also known as imd57. An important gene associated with Immunodeficiency 57 is RIPK1 (Receptor Interacting Serine/Threonine Kinase 1). Affiliated tissues include lung, skin and t cells, and related phenotypes are decreased antibody level in blood and skin rash

Description from OMIM: 618108

Related Diseases for Immunodeficiency 57

Symptoms & Phenotypes for Immunodeficiency 57

Human phenotypes related to Immunodeficiency 57:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 decreased antibody level in blood 33 very rare (1%) HP:0004313
2 skin rash 33 very rare (1%) HP:0000988
3 inflammation of the large intestine 33 HP:0002037
4 recurrent infections 33 HP:0002719
5 diarrhea 33 HP:0002014
6 bronchiectasis 33 HP:0002110
7 gastritis 33 HP:0005263
8 chronic lung disease 33 HP:0006528

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Immunology:
recurrent infections
hypogammaglobulinemia (in some patients)
decreased nk cells (in some patients)
t-cell lymphopenia
decreased b cells (in some patients)
more
Respiratory Lung:
bronchiectasis
chronic lung disease

Skeletal:
inflammatory polyarthritis

Respiratory:
recurrent respiratory infections

Abdomen Gastrointestinal:
diarrhea
gastritis
inflammatory bowel disease
chronic active inflammation

Head And Neck Mouth:
mouth ulcers

Skin Nails Hair Skin:
skin rash (in some patients)
lymphocytic vasculitis (in some patients)

Clinical features from OMIM:

618108

Drugs & Therapeutics for Immunodeficiency 57

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 57

Genetic Tests for Immunodeficiency 57

Anatomical Context for Immunodeficiency 57

MalaCards organs/tissues related to Immunodeficiency 57:

42
Lung, Skin, T Cells, B Cells, Nk Cells

Publications for Immunodeficiency 57

Articles related to Immunodeficiency 57:

# Title Authors Year
1
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. ( 30026316 )
2018

Variations for Immunodeficiency 57

ClinVar genetic disease variations for Immunodeficiency 57:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RIPK1 RIPK1, 4-BP DEL deletion Pathogenic
2 RIPK1 RIPK1, 21-BP DEL deletion Pathogenic
3 RIPK1 RIPK1, 2,064-BP DEL deletion Pathogenic

Expression for Immunodeficiency 57

Search GEO for disease gene expression data for Immunodeficiency 57.

Pathways for Immunodeficiency 57

GO Terms for Immunodeficiency 57

Sources for Immunodeficiency 57

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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