Information on SCID1
Basic details
Name: T-negative/B-positive SCID type 1 | Acronym: SCID1
Alt. names: JAK3 deficiency | SCID, autosomal recessive, T-negative/B-positive type
Gene: JAK3 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 14 | First reported in: 1995
Last updated on: 2024-01-19 10:18:28 by Andrés Caballero-Oteyza
Description
Candotti et al. (1997, PMID:9354668) noted that patients with SCID due to JAK3 deficiency have a clinical phenotype that is virtually identical to X-linked SCID. Both disorders are characterized by the absence of circulating mature T lymphocytes and NK cells, normal to elevated numbers of nonfunctional B lymphocytes, and marked hypoplasia of lymphoid tissues. In a study of 108 patients with SCID, Buckley et al. (1997, PMID:9063412) found that IL2RG deficiency and JAK3 deficiency accounted for approximately 42% and 6% of cases, respectively.[source:OMIM]
Management
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; BMT has been reported as effective for T-cell reconstitution, but less succesful as relates to B and NK-cell function. Refs. PMIDs: 7659163; 7481768; 14615376; 21184155; 21732012; 23001410
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 |
|---|---|---|---|---|---|---|---|---|
105204 |
M | 215670 |
0 | Definitive | PMID:7659163 [Fam.1:II.1(G.M.)] | |||
| 105934 |
M | 215910 |
0 | Definitive | PMID:7659163 [Fam.2:II.1(C.M.)]; PMID:8676091 [Fam.1:II.1(C.M.)] | |||
| 106419 |
F | 216013 |
1 | 0 | Definitive | U.S.A. | PMID:7481768 [AP(II.1)] | |
| 106591 |
F | 216084 |
23 | 0 | Definitive | Lebanese | PMID:9753072 [P(II.1)]; PMID:785357 [Patient(II.1)] | |
| 106653 |
F | 216100 | 0 | 0 | Definitive | China | Chinese (China) | PMID:36466884 [Pt1(II.2)] |
| 106747 |
F | 216120 | 1 | Definitive | PMID:32215810 [Pt(II.-)] | |||
| 106750 |
F | 216121 |
1 | 0 | Possible | Israel | Palestinian | PMID:32921793 [Fam.B:II.1(P1-B)] |
| 106753 |
F | 216122 |
1 | 0 | Possible | China | Chinese (China) | PMID:31309596 [Pt(II.2)] |
| 106756 |
U | 215910 |
Definitive | PMID:8676091 [Fam.1:II.2(C.A.)] | ||||
| 106761 |
F | 216124 |
3 | 0 | Possible | Iran | Caucasian | PMID:28916186 [P5]; PMID:31440277 [pt(II.1)] |
| 106770 |
M | 216126 |
Possible | Turkey | Turkish | PMID:32445296 [SC29(II.1)] | ||
| 106773 |
F | 216127 | Definitive | Brazil | Brasilian | PMID:30177960 [Fam.Fam 1:IV.2(Pt.1)] | ||
| 106777 |
F | 216128 | Definitive | Brazil | Brasilian | PMID:30177960 [Fam.Fam2:IV.2(Pt.2)] | ||
| 106791 |
M | 216142 | Definitive | Italy | Italian | PMID:30032486 [Fam.Fam1:II.1(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 | Hypogammaglobulinemia |
6 (42.9%) | 0 (0.0%) | 8 (57.1%) |
| 2 | Decreased IgA levels |
5 (35.7%) | 0 (0.0%) | 9 (64.3%) |
| 3 | Decreased IgG levels |
4 (28.6%) | 1 (7.1%) | 9 (64.3%) |
| 4 | (unusual) Respiratory tract infection |
4 (28.6%) | 1 (7.1%) | 9 (64.3%) |
| 5 | Lung disease |
4 (28.6%) | 1 (7.1%) | 9 (64.3%) |
| 6 | Reduced T cell count |
4 (28.6%) | 1 (7.1%) | 9 (64.3%) |
| 7 | Decreased IgM levels |
3 (21.4%) | 2 (14.3%) | 9 (64.3%) |
| 8 | Increased number of B cells |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 9 | (Unusual) bacterial infection |
3 (21.4%) | 1 (7.1%) | 10 (71.4%) |
| 10 | Enteropathy |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 11 | Diarrhea |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 12 | Failure to thrive |
3 (21.4%) | 0 (0.0%) | 11 (78.6%) |
| 13 | Pneumonia |
3 (21.4%) | 1 (7.1%) | 10 (71.4%) |
| 14 | Hematopoietic stem cell transplantation |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 15 | Reduced NK cell number |
2 (14.3%) | 1 (7.1%) | 11 (78.6%) |
| 16 | Thymus hypoplasia |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 17 | Mucocutaneous candidiasis |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 18 | Pustule |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 19 | Lymphopenia |
2 (14.3%) | 1 (7.1%) | 11 (78.6%) |
| 20 | Oral candidiasis |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 21 | Erythroderma |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 22 | BCGosis |
2 (14.3%) | 1 (7.1%) | 11 (78.6%) |
| 23 | Skin infections |
2 (14.3%) | 0 (0.0%) | 12 (85.7%) |
| 24 | Proximal tubulopathy |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 25 | Skin-colored papule |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 26 | Dermatitis |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 27 | Wheezing |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 28 | Otitis media |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 29 | Productive cough |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 30 | Nonproductive cough |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 31 | Mycobacterium abscessus abscessus infection |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 32 | Persistent CMV viremia |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 33 | Gastrointestinal inflammation |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 34 | Eosinophilia |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 35 | Lymphadenopathy |
1 (7.1%) | 2 (14.3%) | 11 (78.6%) |
| 36 | Papule |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 37 | Skin nodule |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 38 | Skin ulcer |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 39 | Dry skin |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 40 | Septicaemia |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 41 | RSV bronchiolitis |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 42 | macrophage activation syndrome |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 43 | Decreased lymphocyte proliferation in response to mitogen: PHA |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 44 | Recurrent fevers |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 45 | Interstitial lung disease |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 46 | Reduced proportion of CD8 T cells |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 47 | Increased proportion of CD4 T cells |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 48 | Abnormal lymphoproliferation |
1 (7.1%) | 2 (14.3%) | 11 (78.6%) |
| 49 | Neutropenia |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 50 | Impetigo |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 51 | Mediastinal lymphadenopathy |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 52 | Alopecia |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 53 | Pulmonary tuberculosis |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 54 | Recurrent pneumonia |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 55 | Rotavirus infection |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 56 | Cytomegalovirus infection |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 57 | (unusual) Viral infection |
1 (7.1%) | 1 (7.1%) | 12 (85.7%) |
| 58 | Pyelonephritis |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 59 | Increased T cell count |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 60 | Invasive pulmonary aspergillosis |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 61 | Cutaneous abscess |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 62 | Skin rash |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 63 | Eczema |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 64 | Respiratory distress |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 65 | Cutaneous fungal infections |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 66 | Decreased hemoglobin concentration |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 67 | Hepatopathy |
0 (0.0%) | 2 (14.3%) | 12 (85.7%) |
| 68 | Hepatosplenomegaly |
0 (0.0%) | 2 (14.3%) | 12 (85.7%) |
| 69 | Reduced number of B cells |
0 (0.0%) | 2 (14.3%) | 12 (85.7%) |
| 70 | Leukopenia |
0 (0.0%) | 2 (14.3%) | 12 (85.7%) |
| 71 | HIV Infection |
0 (0.0%) | 1 (7.1%) | 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 |
|---|---|
| Intravenous immunoglobulin therapy | Unspecified (2) for Decreased IgG levels; unspecified. Mild (1) for unspecified |
| Antibiotics | Unspecified (2) for Mycobacterium abscessus abscessus infection; unspecified. Negative/Bad (1) for BCGosis. Good (1) for Fever; Productive cough |
| Trimethoprim | Good (1) for Fever. Unspecified (1) for unspecified |
| Sulfamethoxazole | Good (1) for Productive cough. Unspecified (1) for unspecified |
| Ethambutol | Negative/Bad (1) for BCGosis. Unspecified (1) for Mycobacterium abscessus abscessus infection |
| Hematopoietic stem cell transplantation | Negative/Bad (1) for unspecified. Mild (1) for unspecified. Good (1) for unspecified. Unspecified (1) for unspecified |
| Rifampicin | Negative/Bad (1) for BCGosis. Unspecified (1) for Mycobacterium abscessus abscessus infection |
| isoniazid | Negative/Bad (1) for BCGosis. Unspecified (1) for Mycobacterium abscessus abscessus infection |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.