Combined immunodeficiency with skin granulomas

General Information (adopted from Orphanet):

Synonyms, Signs: CCHIDG
Combined immunodeficiency due to RAG 1/2 deficiency
CID due to RAG 1/2 deficiency
Number of Symptoms 15
OrphanetNr: 157949
OMIM Id: 233650
ICD-10: D81.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease
Genetic immune deficiency with skin involvement
 -Rare genetic disease
Immune deficiency with skin involvement
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0010976) B lymphocytopenia 8 / 7739
2
(HPO:0004313) Decreased antibody level in blood 47 / 7739
3
(HPO:0005403) T lymphocytopenia 10 / 7739
4
(HPO:0004315) IgG deficiency 38 / 7739
5
(HPO:0002205) Recurrent respiratory infections 254 / 7739
6
(HPO:0005387) Combined immunodeficiency 5 / 7739
7
(OMIM) Decreased numbers of T cells 1 / 7739
8
(OMIM) Lack of thymus on ultrasound 1 / 7739
9
(OMIM) Defective T cell function 1 / 7739
10
(OMIM) Granulomas can appear on skin, tongue, lungs, or other tissues 1 / 7739
11
(OMIM) Decreased numbers of B cells 1 / 7739
12
(OMIM) Granulomas, non-infectious 1 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(OMIM) Residual RAG1 and RAG2 activity 1 / 7739
15
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schuetz et al. (2008) reported 3 unrelated girls with combined cellular and humoral deficiencies and multiple granulomas. The first patient presented at age 2.5 years with multiple facial papulonodular lesions composed of epithelioid cells with a strong lymphocytic ...
Molecular genetics OMIM In 2 unrelated patients with childhood onset of cellular and humoral deficiencies associated with granuloma formation, Schuetz et al. (2008) identified compound heterozygous mutations in the RAG1 gene (179615.0018-179615.0021). A third affected child had compound heterozygous mutations in ...