IMD71
MCID: IMM225
MIFTS: 25

Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia (IMD71)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 71 with Inflammatory Disease and Congenital...

MalaCards integrated aliases for Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia:

Name: Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia 57 12
Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 57 12 73 29 6
Plteid 57 12 73
Imd71 57 12
Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease; Plteid 57
Immunodeficiency 71 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
death in childhood (in some patients)


HPO:

31
immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112004
OMIM® 57 617718
OMIM Phenotypic Series 57 PS300755

Summaries for Immunodeficiency 71 with Inflammatory Disease and Congenital...

OMIM® : 57 Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses. Laboratory findings are variable, but usually show thrombocytopenia, sometimes with abnormal platelet morphology, increased serum IgE, IgA, or IgM, leukocytosis, decreased or increased T lymphocytes, and increased eosinophils. Detailed studies show impaired neutrophil and T-cell chemotaxis, as well as impaired T-cell activation due to defects in F-actin (see 102610) polymerization (summary by Brigida et al., 2018). (617718) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia, is also known as platelet abnormalities with eosinophilia and immune-mediated inflammatory disease. An important gene associated with Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia is ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B). Affiliated tissues include neutrophil and t cells, and related phenotypes are failure to thrive and inflammation of the large intestine

Disease Ontology : 12 A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has material basis in homozygous or compound heterozygous mutation in ARPC1B on chromosome 7q22.1.

UniProtKB/Swiss-Prot : 73 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease: An autosomal recessive disorder characterized by platelet abnormalities, vasculitis, eosinophilia, and predisposition to inflammatory diseases.

Related Diseases for Immunodeficiency 71 with Inflammatory Disease and Congenital...

Symptoms & Phenotypes for Immunodeficiency 71 with Inflammatory Disease and Congenital...

Human phenotypes related to Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 inflammation of the large intestine 31 HP:0002037
3 thrombocytopenia 31 HP:0001873
4 vasculitis 31 HP:0002633
5 recurrent infections 31 HP:0002719
6 lymphadenopathy 31 HP:0002716
7 elevated erythrocyte sedimentation rate 31 HP:0003565
8 lymphocytosis 31 HP:0100827
9 decreased mean platelet volume 31 HP:0005537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytopenia
small platelets
variable platelet abnormalities (in some patients)
microthrombocytes
more
Immunology:
sepsis
recurrent infections
lymphadenopathy
leukocytosis
recurrent fever
more
Abdomen Gastrointestinal:
colitis
gastrointestinal bleeding
inflammatory bowel disease
gastroenteritis
hemorrhagic colitis

Abdomen Spleen:
splenomegaly

Respiratory:
recurrent respiratory infections
pneumonia
bronchiectasis

Head And Neck Ears:
otitis media

Skin Nails Hair Skin:
eczema
abscesses
skin infections
leukocytoclastic vasculitis
purpuric lesion
more
Skin Nails Hair Skin Histology:
leukocytoclastic vasculitis
skin deposition of igg, igm, and c3

Clinical features from OMIM®:

617718 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 71 with Inflammatory Disease and Congenital...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia

Genetic Tests for Immunodeficiency 71 with Inflammatory Disease and Congenital...

Genetic tests related to Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia:

# Genetic test Affiliating Genes
1 Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 29 ARPC1B

Anatomical Context for Immunodeficiency 71 with Inflammatory Disease and Congenital...

MalaCards organs/tissues related to Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia:

40
Neutrophil, T Cells

Publications for Immunodeficiency 71 with Inflammatory Disease and Congenital...

Articles related to Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia:

# Title Authors PMID Year
1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort. 57 6
32499645 2020
2
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency. 57 6
30254128 2018
3
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B. 57 6
29127144 2017
4
Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency. 57 6
27965109 2017
5
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease. 57 6
28368018 2017
6
Increased chemoattractant induced neutrophil oxidative burst, accelerated apoptosis, and dysregulated tyrosine phosphorylation associated with lifelong bacterial infections. 57
16019263 2005

Variations for Immunodeficiency 71 with Inflammatory Disease and Congenital...

ClinVar genetic disease variations for Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARPC1B NM_005720.4(ARPC1B):c.314C>T (p.Ala105Val) SNV Pathogenic 444878 rs1186149065 7:98985806-98985806 7:99388183-99388183
2 ARPC1B NM_005720.4(ARPC1B):c.268_269dup (p.Val91fs) Duplication Pathogenic 444877 7:98985759-98985760 7:99388136-99388137
3 ARPC1B NM_005720.4(ARPC1B):c.64+1G>A SNV Pathogenic 624587 rs111297226 7:98983402-98983402 7:99385779-99385779
4 ARPC1B NM_005720.4(ARPC1B):c.763_764del (p.Asp255fs) Deletion Pathogenic 802341 rs1584410808 7:98988855-98988856 7:99391232-99391233
5 ARPC1B NM_005720.4(ARPC1B):c.491_495delinsCCTGCCC (p.Phe164fs) Indel Pathogenic 974765 7:98987626-98987630 7:99390003-99390007
6 ARPC1B NM_005720.4(ARPC1B):c.624_625del (p.Cys209fs) Deletion Pathogenic 974766 7:98988638-98988639 7:99391015-99391016
7 ARPC1B NM_005720.4(ARPC1B):c.64+1G>C SNV Pathogenic 974767 7:98983402-98983402 7:99385779-99385779
8 ARPC1B NM_005720.4(ARPC1B):c.622G>T (p.Val208Phe) SNV Pathogenic 974768 7:98988637-98988637 7:99391014-99391014
9 ARPC1B NM_005720.4(ARPC1B):c.1087dup (p.Glu363fs) Duplication Pathogenic 974769 7:98992078-98992079 7:99394455-99394456
10 ARPC1B NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs) Deletion Pathogenic 827687 rs760191638 7:98988832-98988836 7:99391209-99391213
11 ARPC1B NC_000007.13:g.98967377_98976510del Deletion Pathogenic 974771
12 ARPC1B NM_005720.4(ARPC1B):c.708-1G>A SNV Likely pathogenic 976236 7:98988800-98988800 7:99391177-99391177

Expression for Immunodeficiency 71 with Inflammatory Disease and Congenital...

Search GEO for disease gene expression data for Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia.

Pathways for Immunodeficiency 71 with Inflammatory Disease and Congenital...

GO Terms for Immunodeficiency 71 with Inflammatory Disease and Congenital...

Sources for Immunodeficiency 71 with Inflammatory Disease and Congenital...

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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