Information on SCID7

Basic details

Name: Immunodeficiency 8 | Acronym: SCID7
Alt. names: Coronin-1A deficiency

Gene: CORO1A | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 9 | First reported in: 2009

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

OMIM: 615401

Orphanet: 228003

MONDO: -

DOID: -

ClinGen:

Description

The condition can involve recurrent infections, and awareness may allow preventive measures, and early and aggressive treatment of infections; Individuals have been described with oncologic sequelae of infections (such as EBV-related lymphoproliferative disorders) and awareness may allow prompt diagnosis and management; BMT has been described. Refs. PMIDs: 19097825; 23522482; 25073507

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.

9 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code
102654arrow icon F 214978tree icon 1 U.S.A. North American PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)]
102659arrow icon F 214979tree icon 11 1 Morocco Moroccan PMID:23522482 [P3(V.3)]
102660arrow icon M 214979tree icon 11 1 Morocco Moroccan PMID:23522482 [Fam.P3:V.1(P1)]
102661arrow icon F 214979tree icon 11 1 Morocco Moroccan PMID:23522482 [Fam.P3:V.2(P2)]
102803arrow icon F 214991tree icon 16 7 U.S.A. North American PMID:25073507 [P1(II.2)]
102804arrow icon M 214991tree icon 9 7 U.S.A. North American PMID:25073507 [Fam.P1:II.1(P2)]
102808arrow icon M 214992tree icon 20 2 Turkey Turkish PMID:26476480 [P1(II.1)]
102809arrow icon F 214992tree icon 18 1 Turkey Turkish PMID:26476480 [Fam.P1:II.2(P2)]
102815arrow icon M 214994 4 PMID:34913575 [Patient]

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 (unusual) Respiratory tract infectionarrow icon 5 (55.6%) 0 (0.0%) 4 (44.4%)
2 Hematopoietic stem cell transplantationarrow icon 4 (44.4%) 0 (0.0%) 5 (55.6%)
3 Lung diseasearrow icon 4 (44.4%) 0 (0.0%) 5 (55.6%)
4 (unusual) Viral infectionarrow icon 4 (44.4%) 0 (0.0%) 5 (55.6%)
5 B-cell lymphomaarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
6 Abnormal lymphoproliferationarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
7 Bronchiectasisarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
8 Non-Hodgkin lymphomaarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
9 Recurrent upper respiratory tract infectionarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
10 Lymphadenopathyarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
11 Lymphopeniaarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
12 Cognitive impairmentarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
13 Human papilloma virus infectionarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
14 Atopyarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
15 Molluscum contagiosumarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
16 Skin infections arrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
17 Asthmaarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
18 Sinusitisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
19 Otitis mediaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
20 Disseminated cutaneous wartsarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
21 Recurrent lower respiratory tract infectionsarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
22 Behavioral abnormalityarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
23 Hyperactivityarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
24 Cellulitisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
25 Kaposi's sarcomaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
26 Mucocutaneous candidiasisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
27 Hepatopathyarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
28 Gastroesophageal refluxarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
29 Tuberculoid Leprosyarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
30 Hepatosplenomegalyarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
31 Anemiaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
32 Herpes Simplex Virus Infectionarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
33 Severe combined immunodeficiencyarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
34 Growth delayarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
35 Hodgkin lymphomaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
36 Recurrent bronchopulmonary infectionsarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
37 Attention deficit hyperactivity disorderarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
38 Leukopeniaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
39 Varicella zoster virus infectionarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
40 Lymphomaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
41 VZV meningitisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
42 Psychomotor retardationarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
43 Hypogammaglobulinemiaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
44 Oral candidiasisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
45 Pneumoniaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
46 Delayed speech and language developmentarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
47 Gastrointestinal inflammationarrow icon 0 (0.0%) 1 (11.1%) 8 (88.9%)

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
Hematopoietic stem cell transplantation Unspecified (4) for unspecified

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.