Information on SCID3
Basic details
Name: Severe combined immunodeficiency due to PTPRC deficiency | Acronym: SCID3
Alt. names: CD45 deficiency | Immunodeficiency 105, severe combined | IMD105
Gene: PTPRC | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2000
Last updated on: 2023-06-19 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by onset of recurrent infections in early infancy. Manifestations may include pneumonia, dermatitis, and lymphadenopathy. B-cell lymphoma was reported in 1 patient. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. The disorder is caused by a deficiency of transmembrane protein CD45 (PTPRC) on leukocytes, which plays an important role in T- and B-cell development (Cale et al., 1997; Kung et al., 2000).[source:OMIM]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
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 | Decreased IgA levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased IgG levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Infantile onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Absence of lymph node germinal center |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | B-cell lymphoma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Death in childhood |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Hypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Decreased IgM levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Hepatosplenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Impaired lymphocyte transformation with phytohemagglutinin |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Increased number of B cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Lymphopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Pancytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Reduced NK cell number |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Skin rash |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Reduced T cell count |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Reduced number of B cells |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.