Information on SCID9A
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 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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | (unusual) Respiratory tract infection |
6 (54.6%) | 0 (0.0%) | 5 (45.5%) |
| 2 | Lung disease |
6 (54.6%) | 0 (0.0%) | 5 (45.5%) |
| 3 | Pneumonia |
6 (54.6%) | 0 (0.0%) | 5 (45.5%) |
| 4 | Increased inflammatory response |
6 (54.6%) | 0 (0.0%) | 5 (45.5%) |
| 5 | Mucocutaneous candidiasis |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 6 | Dermatitis |
3 (27.3%) | 1 (9.1%) | 7 (63.6%) |
| 7 | Abnormal lymphoproliferation |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 8 | Autoimmune cytopenia |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 9 | Oral candidiasis |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 10 | Abnormal liver morphology |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 11 | Hepatopathy |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 12 | Severe viral infection |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 13 | (unusual) Bacterial infection |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 14 | Autoimmune hemolytic anemia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 15 | Visceromegaly |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 16 | Enteropathy |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 17 | Hepatomegaly |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 18 | Diarrhea |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 19 | Hypogammaglobulinemia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 20 | (unusual) Viral infection |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 21 | Hemolytic anemia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 22 | Skin rash |
2 (18.2%) | 1 (9.1%) | 8 (72.7%) |
| 23 | Erythroderma |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 24 | BCGosis |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 25 | Abdominal symptom |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 26 | Infection following live vaccination |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 27 | Abnormal spleen morphology |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 28 | Abnormal cell proliferation |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 29 | Abnormal lymphocyte physiology |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 30 | Neonatal sepsis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 31 | Thrombocytopenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 32 | Lymphadenopathy |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 33 | Abnormal circulating IgM level |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 34 | Jaundice |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 35 | Dermatological manifestations of systemic disorders |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 36 | Lymphopenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 37 | Septicaemia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 38 | Leg ulcer |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 39 | Cholestasis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 40 | Anti-thyroid antibody positivity |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 41 | Candidiasis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 42 | Decreased IgM levels |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 43 | Antinuclear antibodies |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 44 | Reduced number of B cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 45 | Vomiting |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 46 | Nausea and vomiting |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 47 | Splenomegaly |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 48 | Abnormality of the lymph nodes |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 49 | Abnormality of the lower limb |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 50 | Integumentary and exocrine system abnormality |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 51 | Autoimmune thrombocytopenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 52 | Meningitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 53 | Skin abnormality |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 54 | Herpes Simplex Virus Infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 55 | Abnormal immunoglobulin level |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 56 | Reduced T cell count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 57 | Varicella zoster virus infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 58 | (unusual) Cytomegalovirus infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 59 | Abnormal T cell count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 60 | Abnormal B cell count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 61 | Autoimmune antibody positivity |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 62 | anti-TPO antibodies |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 63 | Severe Adenovirus infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 64 | Abnormal macrophage morphology |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 65 | (unusual) Epstein-Barr virus infection |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 66 | Granulomatosis |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
Age of onset
distribution
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 Pneumonia; Meningitis. Negative/Bad (1) for Leg ulcer |
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).