MCID: IMM068
MIFTS: 22

Immunodeficiency 8

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

Aliases & Classifications for Immunodeficiency 8

MalaCards integrated aliases for Immunodeficiency 8:

Name: Immunodeficiency 8 57 75 29 6 73
Imd8 57 75
Severe Combined Immunodeficiency Due to Coronin-1a Deficiency 59
Severe Combined Immunodeficiency Due to Coro1a Deficiency 59
Scid Due to Coronin-1a Deficiency 59
Scid Due to Coro1a Deficiency 59
Immunodeficiency, Type 8 40

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
immunodeficiency 8:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615401
Orphanet 59 ORPHA228003
ICD10 via Orphanet 34 D81.2
MeSH 44 D007153
UMLS 73 C3809383

Summaries for Immunodeficiency 8

UniProtKB/Swiss-Prot : 75 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 lrba deficiency. An important gene associated with Immunodeficiency 8 is CORO1A (Coronin 1A). Affiliated tissues include t cells, b cells and thymus, and related phenotypes are hyperactivity and global developmental delay

Description from OMIM: 615401

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 lrba deficiency 11.0

Symptoms & Phenotypes for Immunodeficiency 8

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 8:

32
# Description HPO Frequency HPO Source Accession
1 hyperactivity 32 HP:0000752
2 global developmental delay 32 HP:0001263
3 lymphopenia 32 HP:0001888
4 recurrent respiratory infections 32 HP:0002205
5 immunodeficiency 32 HP:0002721

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:

41
T Cells, B Cells, Thymus

Publications for Immunodeficiency 8

Variations for Immunodeficiency 8

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

75
# Symbol AA change Variation ID SNP ID
1 CORO1A p.Val134Met VAR_070447 rs397514755

ClinVar genetic disease variations for Immunodeficiency 8:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 CORO1A NM_007074.3(CORO1A): c.248_249delCT (p.Pro83Argfs) deletion Pathogenic rs606231246 GRCh38 Chromosome 16, 30186647: 30186648
2 CORO1A NM_007074.3(CORO1A): c.248_249delCT (p.Pro83Argfs) deletion Pathogenic rs606231246 GRCh37 Chromosome 16, 30197968: 30197969
3 CORO1A NM_001193333.2(CORO1A): c.400G> A (p.Val134Met) single nucleotide variant Pathogenic rs397514755 GRCh37 Chromosome 16, 30198215: 30198215
4 CORO1A NM_001193333.2(CORO1A): c.400G> A (p.Val134Met) single nucleotide variant Pathogenic rs397514755 GRCh38 Chromosome 16, 30186894: 30186894
5 CORO1A NM_007074.3(CORO1A): c.1078delC (p.Gln360Argfs) deletion Pathogenic rs606231256 GRCh38 Chromosome 16, 30188373: 30188373
6 CORO1A NM_007074.3(CORO1A): c.1078delC (p.Gln360Argfs) deletion Pathogenic rs606231256 GRCh37 Chromosome 16, 30199694: 30199694
7 CORO1A NM_007074.3(CORO1A): c.804C> T (p.Ser268=) single nucleotide variant Benign/Likely benign rs149867063 GRCh37 Chromosome 16, 30199093: 30199093
8 CORO1A NM_007074.3(CORO1A): c.804C> T (p.Ser268=) single nucleotide variant Benign/Likely benign rs149867063 GRCh38 Chromosome 16, 30187772: 30187772
9 CORO1A NC_000016.10: g.(?_30066878)_(30188596_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 30066878: 30188596
10 CORO1A NC_000016.10: g.(?_30066878)_(30188596_?)dup duplication Uncertain significance GRCh37 Chromosome 16, 30078199: 30199917
11 CORO1A NM_007074.3(CORO1A): c.1101C> T (p.Thr367=) single nucleotide variant Benign rs139282852 GRCh38 Chromosome 16, 30188396: 30188396
12 CORO1A NM_007074.3(CORO1A): c.1101C> T (p.Thr367=) single nucleotide variant Benign rs139282852 GRCh37 Chromosome 16, 30199717: 30199717
13 CORO1A NM_007074.3(CORO1A): c.1247G> A (p.Arg416Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 30199863: 30199863
14 CORO1A NM_007074.3(CORO1A): c.1247G> A (p.Arg416Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 30188542: 30188542
15 CORO1A NM_007074.3(CORO1A): c.630C> T (p.Val210=) single nucleotide variant Likely benign rs139989282 GRCh37 Chromosome 16, 30198538: 30198538
16 CORO1A NM_007074.3(CORO1A): c.630C> T (p.Val210=) single nucleotide variant Likely benign rs139989282 GRCh38 Chromosome 16, 30187217: 30187217
17 CORO1A NM_007074.3(CORO1A): c.969C> A (p.Pro323=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 30199370: 30199370
18 CORO1A NM_007074.3(CORO1A): c.969C> A (p.Pro323=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 30188049: 30188049
19 CORO1A NM_007074.3(CORO1A): c.1065+9C> T single nucleotide variant Benign rs117288362 GRCh37 Chromosome 16, 30199579: 30199579
20 CORO1A NM_007074.3(CORO1A): c.1065+9C> T single nucleotide variant Benign rs117288362 GRCh38 Chromosome 16, 30188258: 30188258
21 CORO1A NC_000016.10: g.(?_30066878)_(30188596_?)del deletion Pathogenic GRCh37 Chromosome 16, 30078199: 30199917
22 CORO1A NC_000016.10: g.(?_30066878)_(30188596_?)del deletion Pathogenic GRCh38 Chromosome 16, 30066878: 30188596
23 CORO1A NM_007074.3(CORO1A): c.792G> A (p.Leu264=) single nucleotide variant Likely benign rs139024575 GRCh37 Chromosome 16, 30199081: 30199081
24 CORO1A NM_007074.3(CORO1A): c.792G> A (p.Leu264=) single nucleotide variant Likely benign rs139024575 GRCh38 Chromosome 16, 30187760: 30187760
25 CORO1A NM_007074.3(CORO1A): c.222G> A (p.Ala74=) single nucleotide variant Likely benign rs747607776 GRCh38 Chromosome 16, 30186621: 30186621
26 CORO1A NM_007074.3(CORO1A): c.222G> A (p.Ala74=) single nucleotide variant Likely benign rs747607776 GRCh37 Chromosome 16, 30197942: 30197942
27 CORO1A NM_007074.3(CORO1A): c.1097C> A (p.Pro366His) single nucleotide variant Benign rs150857828 GRCh38 Chromosome 16, 30188392: 30188392
28 CORO1A NM_007074.3(CORO1A): c.1097C> A (p.Pro366His) single nucleotide variant Benign rs150857828 GRCh37 Chromosome 16, 30199713: 30199713
29 CORO1A NM_007074.3(CORO1A): c.1204C> T (p.Arg402Trp) single nucleotide variant Uncertain significance rs150186033 GRCh38 Chromosome 16, 30188499: 30188499
30 CORO1A NM_007074.3(CORO1A): c.1204C> T (p.Arg402Trp) single nucleotide variant Uncertain significance rs150186033 GRCh37 Chromosome 16, 30199820: 30199820

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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7 CNVD
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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72 Tocris
73 UMLS
74 UMLS via Orphanet
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