Severe combined immunodeficiency due to complete RAG1/2 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
SCID due to complete RAG1/2 deficiency
Number of Symptoms 20
OrphanetNr: 331206
OMIM Id: 601457
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:

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:0000265) Mastoiditis 2 / 7739
2
(HPO:0000509) Conjunctivitis 47 / 7739
3
(HPO:0000388) Otitis media 28 / 7739
4
(HPO:0001287) Meningitis 46 / 7739
5
(HPO:0001369) Arthritis 44 / 7739
6
(HPO:0002014) Diarrhea 225 / 7739
7
(HPO:0001508) Failure to thrive 454 / 7739
8
(HPO:0005379) Severe T lymphocytopenia 4 / 7739
9
(HPO:0010976) B lymphocytopenia 8 / 7739
10
(HPO:0003139) Panhypogammaglobulinemia 6 / 7739
11
(HPO:0002090) Pneumonia 59 / 7739
12
(HPO:0008866) Failure to thrive secondary to recurrent infections 3 / 7739
13
(HPO:0004430) Severe combined immunodeficiency 16 / 7739
14
(HPO:0005390) Recurrent opportunistic infections 4 / 7739
15
(OMIM) Loss of or marked reduction of V(D)J recombination activity 1 / 7739
16
(OMIM) Absent peripheral blood B cells 1 / 7739
17
(OMIM) Purulent rhinitis 1 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Inability to reject allogenic cells 1 / 7739
20
(OMIM) Recurrent acute pneumonia 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, ...
Clinical Description OMIM - Early Descriptions of Autosomal Recessive SCID

Glanzmann and Riniker (1950) reported 2 pairs of sibs who had severe infections, candidiasis, agammaglobulinemia, and lymphopenia. Hitzig and Willi (1961), Hitzig (1968), and Hitzig et al. (1968) reported ...

Molecular genetics OMIM In 6 of 14 T-, B-, NK+ SCID patients, Schwarz et al. (1996) identified homozygous or compound heterozygous mutations in the RAG1 (179615.0001-179615.0004) and RAG2 (179616.0001; 179616.0002) genes. Several of the SCID patients had unaffected sibs who were ...