IMD8
MCID: IMM068
MIFTS: 29

Immunodeficiency 8 (IMD8)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 8

MalaCards integrated aliases for Immunodeficiency 8:

Name: Immunodeficiency 8 56 73 29 6 71
Imd8 56 73
Severe Combined Immunodeficiency Due to Coronin-1a Deficiency 58
Severe Combined Immunodeficiency Due to Coro1a Deficiency 58
Scid Due to Coronin-1a Deficiency 58
Scid Due to Coro1a Deficiency 58
Immunodeficiency, Type 8 39

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency due to coro1a deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,early childhood,infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
mucocutaneous immunodeficiency syndrome may be prominent
three unrelated families have been reported (last curated october 2014)


HPO:

31
immunodeficiency 8:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 615401
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
ICD10 via Orphanet 33 D81.2
Orphanet 58 ORPHA228003
UMLS 71 C3809383

Summaries for Immunodeficiency 8

UniProtKB/Swiss-Prot : 73 Immunodeficiency 8: A disease of the immune system leading to recurrent infections, and characterized by CD4+ T-cells lymphopenia. Patients can develop B-cell lymphoproliferation associated with Epstein-Barr virus infection.

MalaCards based summary : Immunodeficiency 8, also known as imd8, is related to immunodeficiency, common variable, 8, with autoimmunity and autoimmune disease. An important gene associated with Immunodeficiency 8 is CORO1A (Coronin 1A). Affiliated tissues include t cells, b cells and thymus, and related phenotypes are global developmental delay and recurrent respiratory infections

More information from OMIM: 615401 PS300755

Related Diseases for Immunodeficiency 8

Diseases related to Immunodeficiency 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 8, with autoimmunity 11.4
2 autoimmune disease 9.8
3 immune deficiency disease 9.8
4 t cell deficiency 9.2 LRBA CORO1A

Symptoms & Phenotypes for Immunodeficiency 8

Human phenotypes related to Immunodeficiency 8:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 recurrent respiratory infections 31 HP:0002205
3 immunodeficiency 31 HP:0002721
4 hyperactivity 31 HP:0000752
5 lymphopenia 31 HP:0001888

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
recurrent respiratory infections

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity (in some patients)
attention-deficit disorder (in some patients)

Head And Neck Mouth:
oral thrush (in 1 patient)

Laboratory Abnormalities:
shortened telomeres (1 patient)

Immunology:
lymphopenia
primary immunodeficiency
increased susceptibility to ebv infection
decreased numbers of naive cd4+ and cd8+ t cells
decreased circulating cd4+ t cells
more
Neurologic Central Nervous System:
delayed psychomotor development (in some patients)

Neoplasia:
ebv-induced b-cell lymphoma

Clinical features from OMIM:

615401

Drugs & Therapeutics for Immunodeficiency 8

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 8

Genetic Tests for Immunodeficiency 8

Genetic tests related to Immunodeficiency 8:

# Genetic test Affiliating Genes
1 Immunodeficiency 8 29 CORO1A

Anatomical Context for Immunodeficiency 8

MalaCards organs/tissues related to Immunodeficiency 8:

40
T Cells, B Cells, Thymus, Heart

Publications for Immunodeficiency 8

Articles related to Immunodeficiency 8:

(show all 14)
# Title Authors PMID Year
1
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. 56 6
25073507 2014
2
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. 56 6
23522482 2013
3
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. 56 6
19097825 2009
4
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. 56 6
18836449 2008
5
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. 61
28473463 2017
6
Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD). 61
28212436 2017
7
Intermedin/adrenomedullin2: an autocrine/paracrine factor in vascular homeostasis and disease. 61
25104450 2014
8
Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children. 61
24260974 2013
9
Oral and dental health status in patients with primary antibody deficiencies. 61
22184272 2011
10
CMV central nervous system disease in stem-cell transplant recipients: an increasing complication of drug-resistant CMV infection and protracted immunodeficiency. 61
20190836 2010
11
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. 61
19403480 2009
12
Pneumocystis jiroveci pneumonia (PCP) in HIV-1-negative patients: a retrospective study 2002-2004. 61
17577823 2007
13
Cardiovascular effects of newly discovered peptide intermedin/adrenomedullin 2. 61
16112404 2005
14
Immunodeficiency-related lymphoproliferative disorders: prospective data from the United Kingdom Children's Cancer Study Group Registry. 61
12139732 2002

Variations for Immunodeficiency 8

ClinVar genetic disease variations for Immunodeficiency 8:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CORO1A NM_001193333.2(CORO1A):c.1078del (p.Gln360fs)deletion Pathogenic 157509 rs606231256 16:30199693-30199693 16:30188372-30188372
2 CORO1A NM_001193333.2(CORO1A):c.248_249del (p.Pro83fs)deletion Pathogenic 40886 rs606231246 16:30197968-30197969 16:30186647-30186648
3 CORO1A NM_001193333.2(CORO1A):c.400G>A (p.Val134Met)SNV Pathogenic 64645 rs397514755 16:30198215-30198215 16:30186894-30186894
4 CORO1A NM_001193333.2(CORO1A):c.670_673GTGC[1] (p.Arg225fs)short repeat Pathogenic 663029 16:30198735-30198738 16:30187414-30187417
5 CORO1A NC_000016.9:g.(?_30078199)_(30199917_?)deldeletion Pathogenic 541425 16:30078199-30199917 16:30066878-30188596
6 CORO1A NC_000016.9:g.(?_30078199)_(30200305_?)deldeletion Pathogenic 658983 16:30078199-30200305 16:30066878-30188984
7 CORO1A NC_000016.9:g.(?_30078199)_(30200305_?)dupduplication Uncertain significance 652956 16:30078199-30200305 16:30066878-30188984
8 CORO1A NM_001193333.2(CORO1A):c.764T>C (p.Leu255Pro)SNV Uncertain significance 647994 16:30199053-30199053 16:30187732-30187732
9 CORO1A NM_001193333.2(CORO1A):c.1252G>A (p.Ala418Thr)SNV Uncertain significance 640137 16:30199868-30199868 16:30188547-30188547
10 CORO1A NM_001193333.2(CORO1A):c.1280C>T (p.Ser427Leu)SNV Uncertain significance 652337 16:30199896-30199896 16:30188575-30188575
11 CORO1A NC_000016.9:g.(?_30078199)_(30199917_?)dupduplication Uncertain significance 474494 16:30078199-30199917 16:30066878-30188596
12 CORO1A NM_001193333.2(CORO1A):c.1247G>A (p.Arg416Lys)SNV Uncertain significance 474497 rs1555491117 16:30199863-30199863 16:30188542-30188542
13 CORO1A NM_001193333.2(CORO1A):c.1204C>T (p.Arg402Trp)SNV Uncertain significance 541421 rs150186033 16:30199820-30199820 16:30188499-30188499
14 CORO1A NM_001193333.2(CORO1A):c.670G>A (p.Val224Met)SNV Uncertain significance 575728 rs763891563 16:30198736-30198736 16:30187415-30187415
15 CORO1A NM_001193333.2(CORO1A):c.347T>C (p.Leu116Pro)SNV Uncertain significance 651063 16:30198162-30198162 16:30186841-30186841
16 CORO1A NM_001193333.2(CORO1A):c.362G>A (p.Arg121Gln)SNV Uncertain significance 651336 16:30198177-30198177 16:30186856-30186856
17 CORO1A NM_001193333.2(CORO1A):c.520G>A (p.Val174Met)SNV Uncertain significance 646149 16:30198428-30198428 16:30187107-30187107
18 CORO1A NM_001193333.2(CORO1A):c.616C>T (p.Arg206Cys)SNV Uncertain significance 654588 16:30198524-30198524 16:30187203-30187203
19 CORO1A NM_001193333.2(CORO1A):c.969C>A (p.Pro323=)SNV Likely benign 474499 rs1555490997 16:30199370-30199370 16:30188049-30188049
20 CORO1A NM_001193333.2(CORO1A):c.222G>A (p.Ala74=)SNV Likely benign 541423 rs747607776 16:30197942-30197942 16:30186621-30186621

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 8:

73
# Symbol AA change Variation ID SNP ID
1 CORO1A p.Val134Met VAR_070447 rs397514755

Expression for Immunodeficiency 8

Search GEO for disease gene expression data for Immunodeficiency 8.

Pathways for Immunodeficiency 8

GO Terms for Immunodeficiency 8

Sources for Immunodeficiency 8

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