Information on SCID1
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: 21 | First reported in: 1995
Last updated on: 2024-01-19 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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Increased inflammatory response |
7 (63.6%) | 0 (0.0%) | 4 (36.4%) |
| 2 | Dermatitis |
6 (54.6%) | 0 (0.0%) | 5 (45.5%) |
| 3 | Hypogammaglobulinemia |
6 (54.6%) | 0 (0.0%) | 5 (45.5%) |
| 4 | Decreased IgA levels |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 5 | Abnormal circulating IgA level |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 6 | Lymphopenia |
5 (45.5%) | 1 (9.1%) | 5 (45.5%) |
| 7 | Lung disease |
5 (45.5%) | 1 (9.1%) | 5 (45.5%) |
| 8 | Reduced T cell count |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 9 | Abnormal T cell count |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 10 | Decreased IgG levels |
4 (36.4%) | 1 (9.1%) | 6 (54.6%) |
| 11 | (unusual) Respiratory tract infection |
4 (36.4%) | 1 (9.1%) | 6 (54.6%) |
| 12 | Abnormal circulating IgG level |
4 (36.4%) | 1 (9.1%) | 6 (54.6%) |
| 13 | Lymphocytosis |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 14 | (unusual) Bacterial infection |
4 (36.4%) | 1 (9.1%) | 6 (54.6%) |
| 15 | Enteropathy |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 16 | Decreased body weight |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 17 | Diarrhea |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 18 | Failure to thrive |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 19 | Abdominal symptom |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 20 | Abnormal circulating IgM level |
3 (27.3%) | 2 (18.2%) | 6 (54.6%) |
| 21 | Decreased IgM levels |
3 (27.3%) | 2 (18.2%) | 6 (54.6%) |
| 22 | Increased number of B cells |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 23 | Abnormal B cell count |
3 (27.3%) | 1 (9.1%) | 7 (63.6%) |
| 24 | Pneumonia |
3 (27.3%) | 1 (9.1%) | 7 (63.6%) |
| 25 | Frequent skin infections |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 26 | Wheezing |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 27 | Abnormal breath sound |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 28 | Otitis media |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 29 | Abnormality of the middle ear |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 30 | Unusual infection by anatomical site |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 31 | Past medical history |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 32 | Hematopoietic stem cell transplantation |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 33 | Reduced NK cell number |
2 (18.2%) | 1 (9.1%) | 8 (72.7%) |
| 34 | Recurrent upper respiratory tract infections |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 35 | Thymus hypoplasia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 36 | Mucocutaneous candidiasis |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 37 | Papule |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 38 | Pustule |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 39 | RSV bronchiolitis |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 40 | Past surgical history |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 41 | Dyspnea |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 42 | Interstitial lung disease |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 43 | Respiratory system abnormality |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 44 | Recurrent impetigo |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 45 | Bronchiolitis |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 46 | Abnormal lymphocyte count |
2 (18.2%) | 1 (9.1%) | 8 (72.7%) |
| 47 | Abnormal NK cell count |
2 (18.2%) | 1 (9.1%) | 8 (72.7%) |
| 48 | Oral candidiasis |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 49 | Aplasia/Hypoplasia of the thymus |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 50 | Cough |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 51 | Erythroderma |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 52 | Restrictive lung disease |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 53 | BCGosis |
2 (18.2%) | 1 (9.1%) | 8 (72.7%) |
| 54 | Abnormality of skin physiology |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 55 | Localized skin lesion |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 56 | Respiratory distress |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 57 | Infection following live vaccination |
2 (18.2%) | 1 (9.1%) | 8 (72.7%) |
| 58 | Proximal tubulopathy |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 59 | Renal tubular dysfunction |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 60 | Skin-colored papule |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 61 | Abscess |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 62 | Abnormal periosteum morphology |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 63 | Productive cough |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 64 | Nonproductive cough |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 65 | Decreased lymphocyte proliferation in response to mitogens |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 66 | Mycobacterium abscessus abscessus infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 67 | Persistent CMV viremia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 68 | Persistent viremia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 69 | Opportunistic bacterial infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 70 | Recurrent lower respiratory tract infections |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 71 | Gastrointestinal inflammation |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 72 | Eosinophilia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 73 | Lymphadenopathy |
1 (9.1%) | 2 (18.2%) | 8 (72.7%) |
| 74 | Abnormality of the mediastinum |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 75 | Skin nodule |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 76 | Skin ulcer |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 77 | Dry skin |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 78 | Septicaemia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 79 | macrophage activation syndrome |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 80 | Decreased lymphocyte proliferation in response to mitogen: PHA |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 81 | Mycobacterium Tuberculosis infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 82 | Fever |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 83 | Periosteal phlegmon |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 84 | Recurrent fevers |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 85 | Vomiting |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 86 | Nausea and vomiting |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 87 | Reduced proportion of CD8 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 88 | Increased proportion of CD4 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 89 | Leukocytosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 90 | Recurrent fungal infections |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 91 | Neutropenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 92 | Abnormal immunoglobulin level |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 93 | (unusual) Urinary tract infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 94 | Mediastinal lymphadenopathy |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 95 | Alopecia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 96 | Pulmonary tuberculosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 97 | Aspergillosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 98 | Lymphoproliferative disorder |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 99 | Recurrent pneumonia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 100 | Rotavirus infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 101 | (unusual) Cytomegalovirus infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 102 | (unusual) Viral infection |
1 (9.1%) | 1 (9.1%) | 9 (81.8%) |
| 103 | Pyelonephritis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 104 | Abnormal eosinophil count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 105 | Abnormal neutrophil count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 106 | Increased T cell count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 107 | Invasive pulmonary aspergillosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 108 | Cutaneous abscess |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 109 | Skin rash |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 110 | Abnormality of immune system physiology |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 111 | Abnormality of skin morphology |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 112 | Eczema |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 113 | Abnormal hair quantity |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 114 | Frequent cutaneous fungal infections |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 115 | Abnormal proportion of CD4 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 116 | Abnormal proportion of CD8 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 117 | Nephritis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 118 | Functional abnormality of the gastrointestinal tract |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 119 | Abnormal hemoglobin concentration |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 120 | Decreased hemoglobin concentration |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 121 | Invasive fungal infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 122 | Abnormal spleen morphology |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 123 | Abnormal liver morphology |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 124 | Hepatopathy |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 125 | Hepatosplenomegaly |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 126 | Reduced number of B cells |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 127 | Abnormality of the abdominal organs |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 128 | Digestive and excretory system abnormality |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 129 | Abnormal lymphoproliferation |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 130 | Abnormality of the lymph nodes |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 131 | Visceromegaly |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 132 | Leukopenia |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 133 | Abnormal leukocyte count |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 134 | HIV Infection |
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 |
|---|---|
| Intravenous immunoglobulin therapy | Unspecified (2) for Decreased IgG levels; unspecified. Mild (1) for unspecified |
| Antibiotics | Unspecified (2) for unspecified; Mycobacterium abscessus abscessus infection. Negative/Bad (1) for BCGosis. Good (1) for Fever; Productive cough |
| Trimethoprim [Antibiotics] |
Good (1) for Fever. Unspecified (1) for unspecified |
| Sulfamethoxazole [Antibiotics] |
Good (1) for Productive cough. Unspecified (1) for unspecified |
| Ethambutol [Antibiotics] |
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 [Antibiotics] |
Negative/Bad (1) for BCGosis. Unspecified (1) for Mycobacterium abscessus abscessus infection |
| Isoniazid [Antibiotics] |
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.
21 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)] | ||
| 107359 |
U | 216445 | Definitive | PMID:9354668 [Fam.1:L.E.] | ||||
| 107365 |
U | 216451 | Definitive | PMID:9354668 [Fam.2:L.P.] | ||||
| 107366 |
U | 216452 | Definitive | PMID:9354668 [Fam.3:N.K.] | ||||
| 107367 |
U | 216453 | Definitive | PMID:9354668 [Fam.4:V.L.] | ||||
| 107585 |
F | 216583 |
0 | 0 | Definitive | Italy | Caucasian | PMID:30032486 [Fam.Fam.2:II.1(Pt2)] |
| 107588 |
F | 216584 |
0 | 0 | Definitive | Italy | Caucasian | PMID:30032486 [Fam.Fam.3:II.1(Pt3)] |
| 107591 |
M | 216585 |
0 | 0 | Definitive | Italy | Caucasian | PMID:30032486 [Fam.Fam.4:II.1(Pt4)] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).