Combined immunodeficiency T+ B+ due to partial RAG1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: CID T+ B+ due to partial RAG1 deficiency
CID with expansion of gamma delta T cells
Number of Symptoms 8
OrphanetNr: 231154
OMIM Id: 609889
ICD-10: D81.8
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: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
2
 (HPO:0001874) Abnormality of neutrophils Frequent [Orphanet] 47 / 7739
3
 (HPO:0001878) Hemolytic anemia Frequent [Orphanet] 83 / 7739
4
 (HPO:0004430) Severe combined immunodeficiency Very frequent [Orphanet] 16 / 7739
5
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
6
 (HPO:0002960) Autoimmunity Occasional [Orphanet] 78 / 7739
7
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
8
 (HPO:0100806) Sepsis Very frequent [Orphanet] 48 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Villartay et al. (2005) reported 4 unrelated infants born to first cousins of Algerian, Moroccan, Lebanese, and Turkish origin who presented with persistent CMV infection before 1 year of age. In 3 patients, CMV infection was associated ...
Molecular genetics OMIM De Villartay et al. (2005) identified homozygous mutations in the RAG1 gene (e.g., 179615.0017) in all 4 patients they reported with alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe CMV infection, and autoimmunity. They concluded that hypomorphic RAG1 ...