Information on SCID9B
Basic details
Name: Severe combined immunodeficiency 9B, T-B- | Acronym: SCID9B
Alt. names: RAG2 deficiency | T-B- SCID
Gene: RAG2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 14 | First reported in: 1996
Last updated on: 2023-05-17 17:13:47 by
Description
Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
14 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
104856 |
F | 215590 | 1 | 0 | Egypt | Egyptian | PMID:30307608 [9] | |
| 104857 |
M | 215591 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [10] | |
| 104858 |
M | 215592 | 1 | 0 | Egypt | Egyptian | PMID:30307608 [11] | |
| 104859 |
M | 215593 | 1 | 0 | Egypt | Egyptian | PMID:30307608 [12] | |
| 104860 |
F | 215594 | 1 | 0 | Egypt | Egyptian | PMID:30307608 [13] | |
| 104861 |
M | 215595 | Egypt | Egyptian | PMID:30307608 [14] | |||
| 104862 |
F | 215596 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [15] | |
| 104863 |
M | 215597 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [16] | |
| 104865 |
M | 215599 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [17] | |
| 104866 |
F | 215600 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [18] | |
| 104867 |
F | 215601 | Egypt | Egyptian | PMID:30307608 [19] | |||
| 104870 |
U | 215585 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [Fam.6:II.2(20)] | |
| 104885 |
F | 215612 | 3 | 1 | Egypt | Egyptian | PMID:30307608 [31] | |
| 105411 |
F | 215761 | 1 | 0 | Italy | Italian | PMID:34664192 [1] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | (unusual) Respiratory tract infection |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 2 | Lung disease |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 3 | Pneumonia |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 4 | Mucocutaneous candidiasis |
6 (42.9%) | 0 (0.0%) | 8 (57.1%) |
| 5 | Enteropathy |
6 (42.9%) | 0 (0.0%) | 8 (57.1%) |
| 6 | Diarrhea |
6 (42.9%) | 0 (0.0%) | 8 (57.1%) |
| 7 | Oral candidiasis |
6 (42.9%) | 0 (0.0%) | 8 (57.1%) |
| 8 | Septicaemia |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 9 | Oral ulcer |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 10 | Autoimmunity |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 11 | Abnormal lymphoproliferation |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 12 | Suppurative Otitis Media |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 13 | Autoimmune hemolytic anemia |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 14 | Autoimmune cytopenia |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 15 | Skin rash |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|---|
| Immunosuppressive agents | Mild (1) for Autoimmune hemolytic anemia |
| Corticosteroids | Mild (1) for Autoimmune hemolytic anemia |
| Methylprednisolone | Mild (1) for Autoimmune hemolytic anemia |
| Antibiotics | Mild (6) for Pneumonia. Negative/Bad (2) for Pneumonia; Septicaemia. Absent (2) for Pneumonia; Septicaemia |
| Antifungal agents | Absent (1) for Oral candidiasis. Mild (1) for Oral candidiasis |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.