Severe combined immunodeficiency due to CORO1A deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: IMD8
SCID due to coronin-1A deficiency
Severe combined immunodeficiency due to coronin-1A deficiency
SCID due to CORO1A deficiency
Number of Symptoms 19
OrphanetNr: 228003
OMIM Id: 615401
ICD-10: D81.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: T-B+ severe combined immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0000752) Hyperactivity 140 / 7739
2
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001888) Lymphopenia 43 / 7739
5
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
6
 (HPO:0002721) Immunodeficiency 97 / 7739
7
 (HPO:0003593) Infantile onset 249 / 7739
8
 (OMIM) Variable antibody response to vaccination 1 / 7739
9
 (OMIM) Impaired survival of mature T cells 1 / 7739
10
 (OMIM) Increased susceptibility to EBV infection 2 / 7739
11
 (OMIM) Decreased invariant NK T cells Post-vaccination varicella (in 1 patient) Low to normal immunoglobulin levels 1 / 7739
12
 (OMIM) Primary immunodeficiency 3 / 7739
13
 (OMIM) Oral thrush 2 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Decreased circulating CD4+ T cells 1 / 7739
16
 (OMIM) EBV-induced B-cell lymphoma 1 / 7739
17
 (OMIM) Mildly decreased or normal T-cell proliferative responses 1 / 7739
18
 (OMIM) Decreased numbers of naive CD4+ and CD8+ T cells 1 / 7739
19
 (OMIM) Normal thymus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shiow et al. (2009) reported a girl with a primary immunodeficiency characterized by early-onset recurrent infections, including oral thrush, and postvaccination varicella at age 13 months. Immunologic workup showed decreased numbers of lymphocytes, poor T-cell function with decreased ...
Molecular genetics OMIM In a girl with immunodeficiency-8, Shiow et al. (2009) identified compound heterozygosity for a truncating mutation in the CORO1A gene (605000.0001) and a de novo heterozygous 600-kb deletion of chromosome 16p11.2 (611913) encompassing 24 genes, including CORO1A. Thus, ...