Information on SCID9A
Basic details
Name: Severe combined immunodeficiency 9A, T-B- | Acronym: SCID9A
Alt. names: RAG1 deficiency | T-B- SCID
Gene: RAG1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 13 | First reported in: 1996
Last updated on: 2023-05-17 17:13:47 by
Description
A T cell-negative (T-), B cell-negative (B-), natural killer cell-positive (NK+) severe combined immunodeficiency (SCID) that can be caused by mutation in the recombinase activating genes RAG1 or RAG2
Management
Antiinfectious prophylaxis (though special consideration is necessary related to the use of live vaccines) and early and aggressive treatment of infections may be beneficial. HSCT has been reported.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
13 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
101480 |
U | 212454 | 0 | Italy | Italian | PMID:11133745 [P23] | ||
| 101481 |
U | 212455 | 1 | Italy | Italian | PMID:20547828 [OS6] | ||
| 101486 |
M | 212456 | Turkey | Turkish | PMID:28109013 [P4(II.1)] | |||
| 101491 |
F | 212457 | 2 | Hungary | Hungarian | PMID:29410113 [Patient(II.1)] | ||
| 102180 |
F | 214912 | China | Chinese (China) | PMID:26476733 [P7] | |||
| 102181 |
F | 214913 | 3 | PMID:30877075 [Case 22]; PMID:28864286 [P1]; PMID:28769923 [P34] | ||||
| 104871 |
M | 215602 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [21] | |
| 104872 |
M | 215603 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [22(II.1)] | |
| 104873 |
M | 215603 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [Fam.22:II.2(23)] | |
| 104874 |
M | 215605 | Egypt | Egyptian | PMID:30307608 [24] | |||
| 104879 |
F | 215606 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [25] | |
| 104880 |
M | 215607 | 1 | 0 | Egypt | Egyptian | PMID:30307608 [26] | |
| 105254 |
F | 215679 | PMID:25516070 [Pt1] |
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 |
6 (46.2%) | 0 (0.0%) | 7 (53.9%) |
| 2 | Lung disease |
6 (46.2%) | 0 (0.0%) | 7 (53.9%) |
| 3 | Pneumonia |
6 (46.2%) | 0 (0.0%) | 7 (53.9%) |
| 4 | Mucocutaneous candidiasis |
4 (30.8%) | 0 (0.0%) | 9 (69.2%) |
| 5 | Autoimmunity |
3 (23.1%) | 0 (0.0%) | 10 (76.9%) |
| 6 | Abnormal lymphoproliferation |
3 (23.1%) | 0 (0.0%) | 10 (76.9%) |
| 7 | Autoimmune cytopenia |
3 (23.1%) | 0 (0.0%) | 10 (76.9%) |
| 8 | Oral candidiasis |
3 (23.1%) | 0 (0.0%) | 10 (76.9%) |
| 9 | Hepatopathy |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 10 | (Unusual) bacterial infection |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 11 | Autoimmune hemolytic anemia |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 12 | Enteropathy |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 13 | Hepatomegaly |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 14 | Diarrhea |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 15 | Hypogammaglobulinemia |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 16 | Skin rash |
2 (15.4%) | 1 (7.7%) | 10 (76.9%) |
| 17 | Erythroderma |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 18 | BCGosis |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 19 | Neonatal sepsis |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 20 | Lymphadenopathy |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 21 | Jaundice |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 22 | Graft Versus Host Disease |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 23 | Leg ulcer |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 24 | Decreased IgM levels |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 25 | Antinuclear antibodies |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 26 | Reduced number of B cells |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 27 | Vomiting |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 28 | Splenomegaly |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 29 | Autoimmune thrombocytopenia |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 30 | Meningitis |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 31 | Skin abnormality |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 32 | Reduced T cell count |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 33 | Varicella zoster virus infection |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 34 | Cytomegalovirus infection |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 35 | (unusual) Viral infection |
1 (7.7%) | 1 (7.7%) | 11 (84.6%) |
| 36 | Autoimmune antibody positivity |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 37 | anti-TPO antibodies |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 38 | Severe Adenovirus infection |
1 (7.7%) | 0 (0.0%) | 12 (92.3%) |
| 39 | (unusual) Epstein-Barr virus infection |
0 (0.0%) | 1 (7.7%) | 12 (92.3%) |
| 40 | Granulomatosis |
0 (0.0%) | 1 (7.7%) | 12 (92.3%) |
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 |
|---|---|
| Antibiotics | Mild (3) for Meningitis; Pneumonia. Negative/Bad (1) for Leg ulcer |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.