IMD57
MCID: IMM219
MIFTS: 20

Immunodeficiency 57 with Autoinflammation (IMD57)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 57 with Autoinflammation

MalaCards integrated aliases for Immunodeficiency 57 with Autoinflammation:

Name: Immunodeficiency 57 with Autoinflammation 56
Immunodeficiency 57 73 29 6
Imd57 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
immunodeficiency 57 with autoinflammation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency 57 with Autoinflammation

UniProtKB/Swiss-Prot : 73 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 with Autoinflammation, is also known as immunodeficiency 57. An important gene associated with Immunodeficiency 57 with Autoinflammation is RIPK1 (Receptor Interacting Serine/Threonine Kinase 1). Affiliated tissues include skin, t cells and lung, and related phenotypes are skin rash and decreased circulating antibody level

More information from OMIM: 618108 PS300755

Related Diseases for Immunodeficiency 57 with Autoinflammation

Symptoms & Phenotypes for Immunodeficiency 57 with Autoinflammation

Human phenotypes related to Immunodeficiency 57 with Autoinflammation:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 skin rash 31 very rare (1%) HP:0000988
2 decreased circulating antibody level 31 very rare (1%) HP:0004313
3 recurrent respiratory infections 31 HP:0002205
4 failure to thrive 31 HP:0001508
5 inflammation of the large intestine 31 HP:0002037
6 diarrhea 31 HP:0002014
7 bronchiectasis 31 HP:0002110
8 gastritis 31 HP:0005263
9 chronic lung disease 31 HP:0006528

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
recurrent respiratory infections

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

Growth Other:
failure to thrive

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 with Autoinflammation

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 57 with Autoinflammation

Genetic Tests for Immunodeficiency 57 with Autoinflammation

Genetic tests related to Immunodeficiency 57 with Autoinflammation:

# Genetic test Affiliating Genes
1 Immunodeficiency 57 29 RIPK1

Anatomical Context for Immunodeficiency 57 with Autoinflammation

MalaCards organs/tissues related to Immunodeficiency 57 with Autoinflammation:

40
Skin, T Cells, Lung, Nk Cells, B Cells

Publications for Immunodeficiency 57 with Autoinflammation

Articles related to Immunodeficiency 57 with Autoinflammation:

# Title Authors PMID Year
1
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. 56 6
30026316 2018

Variations for Immunodeficiency 57 with Autoinflammation

ClinVar genetic disease variations for Immunodeficiency 57 with Autoinflammation:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RIPK1 NM_001354930.2(RIPK1):c.863_866TTTA[1] (p.Phe288_Tyr289insTer)short repeat Pathogenic 561164 6:3089839-3089842 6:3089605-3089608
2 RIPK1 NM_001354930.2(RIPK1):c.688_688+20deldeletion Pathogenic 561165 6:3083547-3083567 6:3083313-3083333
3 RIPK1 NM_001354930.2(RIPK1):c.460-133_689-244deldeletion Pathogenic 561166 6:3083185-3085248 6:3082951-3085014
4 RIPK1 NM_001354930.2(RIPK1):c.954del (p.Met318fs)deletion Pathogenic/Likely pathogenic 598790 rs1561772403 6:3104497-3104497 6:3104263-3104263

Expression for Immunodeficiency 57 with Autoinflammation

Search GEO for disease gene expression data for Immunodeficiency 57 with Autoinflammation.

Pathways for Immunodeficiency 57 with Autoinflammation

GO Terms for Immunodeficiency 57 with Autoinflammation

Sources for Immunodeficiency 57 with Autoinflammation

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
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