Information on SCID11

Basic details

Name: Severe combined immunodeficiency, Athabascan type | Acronym: SCID11
Alt. names: ARTEMIS deficiency

Gene: DCLRE1C | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2001

Last updated on: 2023-02-28 16:41:18 by

OMIM: 602450

Orphanet: 275

MONDO: -

DOID: -

ClinGen:

Description

It is characterized by the classic symptoms of SCID, such as growth retardation, severe infections (pneumonia, gastrointestinal infections, sepsis), recurrent or persistent thrush, and chronic diarrhea. Maternal-fetal transfusion-associated graft-versus-host disease is also associated with the disease. Immunologic findings include the absence of T and B lymphocytes with a normal count of other immune cells, such as NK lymphocytes.

Management

The main treatment is based on immunosuppressants (such as prednisone and cyclosporine), followed by a hematopoietic stem cell transplant. Prophylaxis against infections and their early and aggressive treatment are the best way to avoid the complications derived from them.

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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 Failure to thrivearrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
2 Infantile onsetarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
3 Abnormally low T cell receptor excision circle levelarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 Alopecia of scalparrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 Reduced number of B cellsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 BCGitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Chronic diarrheaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Eosinophiliaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 Erythematous papulearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Generalized lymphadenopathyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Hepatomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 Increased IgE levelsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Lymphopeniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Septicaemiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Splenomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

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