IMD8
MCID: IMM068
MIFTS: 30

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:

(showing 4, show less)
# 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 (showing 5, show less)
# 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 lymphopenia 31 HP:0001888
5 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
recurrent respiratory infections

Neurologic Central Nervous System:
delayed psychomotor development (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 Behavioral Psychiatric Manifestations:
hyperactivity (in some patients)
attention-deficit disorder (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:

(showing 15, show less)
# 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. 6 56
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
Influenza-related hospitalizations due to acute lower respiratory tract infections in a tertiary care children's hospital in Turkey. 61
32464308 2020
6
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. 61
28473463 2017
7
Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD). 61
28212436 2017
8
Intermedin/adrenomedullin2: an autocrine/paracrine factor in vascular homeostasis and disease. 61
25104450 2014
9
Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children. 61
24260974 2013
10
Oral and dental health status in patients with primary antibody deficiencies. 61
22184272 2011
11
CMV central nervous system disease in stem-cell transplant recipients: an increasing complication of drug-resistant CMV infection and protracted immunodeficiency. 61
20190836 2010
12
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
13
Pneumocystis jiroveci pneumonia (PCP) in HIV-1-negative patients: a retrospective study 2002-2004. 61
17577823 2007
14
Cardiovascular effects of newly discovered peptide intermedin/adrenomedullin 2. 61
16112404 2005
15
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 (showing 52, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CORO1A NC_000016.10:g.(?_30066878)_(30188596_?)deldeletion Pathogenic 541425 16:30078199-30199917 16:30066878-30188596
2 CORO1A NM_001193333.2(CORO1A):c.670_673GTGC[1] (p.Arg225fs)short repeat Pathogenic 663029 16:30198735-30198738 16:30187414-30187417
3 CORO1A NC_000016.10:g.(?_30066878)_(30188984_?)deldeletion Pathogenic 658983 16:30078199-30200305 16:30066878-30188984
4 CORO1A NM_001193333.2(CORO1A):c.248_249del (p.Pro83fs)deletion Pathogenic 40886 rs606231246 16:30197968-30197969 16:30186647-30186648
5 CORO1A NM_001193333.2(CORO1A):c.400G>A (p.Val134Met)SNV Pathogenic 64645 rs397514755 16:30198215-30198215 16:30186894-30186894
6 CORO1A NM_001193333.2(CORO1A):c.1078del (p.Gln360fs)deletion Pathogenic 157509 rs606231256 16:30199693-30199693 16:30188372-30188372
7 CORO1A NM_001193333.2(CORO1A):c.1189G>A (p.Val397Ile)SNV Conflicting interpretations of pathogenicity 424440 rs35967690 16:30199805-30199805 16:30188484-30188484
8 CORO1A NC_000016.9:g.(?_30078199)_(30199917_?)dupduplication Uncertain significance 474494 16:30078199-30199917 16:30066878-30188596
9 CORO1A NC_000016.9:g.(?_30078199)_(30200305_?)dupduplication Uncertain significance 652956 16:30078199-30200305 16:30066878-30188984
10 CORO1A NM_001193333.2(CORO1A):c.764T>C (p.Leu255Pro)SNV Uncertain significance 647994 16:30199053-30199053 16:30187732-30187732
11 CORO1A NM_001193333.2(CORO1A):c.1252G>A (p.Ala418Thr)SNV Uncertain significance 640137 16:30199868-30199868 16:30188547-30188547
12 CORO1A NM_001193333.2(CORO1A):c.1280C>T (p.Ser427Leu)SNV Uncertain significance 652337 16:30199896-30199896 16:30188575-30188575
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.1247G>A (p.Arg416Lys)SNV Uncertain significance 474497 rs1555491117 16:30199863-30199863 16:30188542-30188542
20 CORO1A NM_007074.4(CORO1A):c.451+7C>TSNV Uncertain significance 827975 16:30198273-30198273 16:30186952-30186952
21 CORO1A NM_007074.4(CORO1A):c.276C>A (p.His92Gln)SNV Uncertain significance 843470 16:30197996-30197996 16:30186675-30186675
22 CORO1A NM_007074.4(CORO1A):c.339T>G (p.Asp113Glu)SNV Uncertain significance 848350 16:30198154-30198154 16:30186833-30186833
23 CORO1A NM_007074.4(CORO1A):c.373G>T (p.Val125Phe)SNV Uncertain significance 848351 16:30198188-30198188 16:30186867-30186867
24 CORO1A NM_007074.4(CORO1A):c.460_462del (p.Asn154del)deletion Uncertain significance 850657 16:30198366-30198368 16:30187045-30187047
25 CORO1A NM_007074.4(CORO1A):c.500T>C (p.Met167Thr)SNV Uncertain significance 847883 16:30198408-30198408 16:30187087-30187087
26 CORO1A NM_007074.4(CORO1A):c.844G>C (p.Val282Leu)SNV Uncertain significance 863579 16:30199133-30199133 16:30187812-30187812
27 CORO1A NM_007074.4(CORO1A):c.1141G>A (p.Gly381Arg)SNV Uncertain significance 834971 16:30199757-30199757 16:30188436-30188436
28 CORO1A NM_001193333.2(CORO1A):c.630C>T (p.Val210=)SNV Likely benign 474498 rs139989282 16:30198538-30198538 16:30187217-30187217
29 CORO1A NM_001193333.2(CORO1A):c.969C>A (p.Pro323=)SNV Likely benign 474499 rs1555490997 16:30199370-30199370 16:30188049-30188049
30 CORO1A NM_001193333.2(CORO1A):c.792G>A (p.Leu264=)SNV Likely benign 541424 rs139024575 16:30199081-30199081 16:30187760-30187760
31 CORO1A NM_001193333.2(CORO1A):c.222G>A (p.Ala74=)SNV Likely benign 541423 rs747607776 16:30197942-30197942 16:30186621-30186621
32 CORO1A NM_007074.4(CORO1A):c.346C>T (p.Leu116=)SNV Likely benign 786565 16:30198161-30198161 16:30186840-30186840
33 CORO1A NM_007074.4(CORO1A):c.840C>T (p.Asn280=)SNV Likely benign 789617 16:30199129-30199129 16:30187808-30187808
34 CORO1A NM_007074.4(CORO1A):c.1173C>T (p.Ser391=)SNV Likely benign 797889 16:30199789-30199789 16:30188468-30188468
35 CORO1A NM_007074.4(CORO1A):c.87C>T (p.Arg29=)SNV Likely benign 717111 16:30196617-30196617 16:30185296-30185296
36 CORO1A NM_007074.4(CORO1A):c.372C>T (p.Val124=)SNV Likely benign 712387 16:30198187-30198187 16:30186866-30186866
37 CORO1A NM_007074.4(CORO1A):c.837C>T (p.Thr279=)SNV Likely benign 710705 16:30199126-30199126 16:30187805-30187805
38 CORO1A NM_007074.4(CORO1A):c.462C>T (p.Asn154=)SNV Likely benign 729470 16:30198370-30198370 16:30187049-30187049
39 CORO1A NM_007074.4(CORO1A):c.322-4G>ASNV Likely benign 725376 16:30198133-30198133 16:30186812-30186812
40 CORO1A NM_007074.4(CORO1A):c.1074G>C (p.Leu358=)SNV Likely benign 741732 16:30199690-30199690 16:30188369-30188369
41 CORO1A NM_007074.4(CORO1A):c.54G>C (p.Pro18=)SNV Likely benign 766725 16:30196584-30196584 16:30185263-30185263
42 CORO1A NM_007074.4(CORO1A):c.1002C>T (p.Ile334=)SNV Likely benign 761316 16:30199403-30199403 16:30188082-30188082
43 CORO1A NM_007074.4(CORO1A):c.757-10G>CSNV Likely benign 752969 16:30199036-30199036 16:30187715-30187715
44 CORO1A NM_007074.4(CORO1A):c.452-7C>TSNV Likely benign 759085 16:30198353-30198353 16:30187032-30187032
45 CORO1A NM_001193333.2(CORO1A):c.843C>T (p.Ile281=)SNV Benign/Likely benign 508830 rs199650298 16:30199132-30199132 16:30187811-30187811
46 CORO1A NM_001193333.2(CORO1A):c.804C>T (p.Ser268=)SNV Benign/Likely benign 381252 rs149867063 16:30199093-30199093 16:30187772-30187772
47 CORO1A NM_007074.4(CORO1A):c.1146T>C (p.Gly382=)SNV Benign 779695 16:30199762-30199762 16:30188441-30188441
48 CORO1A NM_007074.4(CORO1A):c.738G>A (p.Gln246=)SNV Benign 775108 16:30198804-30198804 16:30187483-30187483
49 CORO1A NM_001193333.2(CORO1A):c.1101C>T (p.Thr367=)SNV Benign 474496 rs139282852 16:30199717-30199717 16:30188396-30188396
50 CORO1A NM_007074.4(CORO1A):c.451+8G>ASNV Benign 791759 16:30198274-30198274 16:30186953-30186953
51 CORO1A NM_001193333.2(CORO1A):c.1097C>A (p.Pro366His)SNV Benign 541422 rs150857828 16:30199713-30199713 16:30188392-30188392
52 CORO1A NM_001193333.2(CORO1A):c.1065+9C>TSNV Benign 474495 rs117288362 16:30199579-30199579 16:30188258-30188258

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

73 (showing 1, show less)
# 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

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
Content
Loading form....