Information on IMD35

Basic details

Name: Immunodeficiency 35 | Acronym: IMD35
Alt. names:

Gene: TYK2 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 1 | First reported in: 2006

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

OMIM: 611521

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 17088085; 17521577; 18270328; 26304966

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.

1 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code
103018arrow icon M 215085tree icon 22 0 Japan Japanese PMID:17676033 [Tyk2 Pt]; PMID:17088085 [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 Sinusitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
2 Otitis mediaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
3 Atopic dermatitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 Eosinophiliaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 (unusual) Respiratory tract infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 Mucocutaneous candidiasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Septicaemiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Increased IgE levelsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 (Unusual) bacterial infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Lung diseasearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Herpes Simplex Virus Infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 Atopyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 (unusual) Viral infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Salmonella infectionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Oral candidiasisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Cutaneous abscessarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Pneumoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Molluscum contagiosumarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Skin rasharrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 BCGosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Eczemaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
22 Skin infections arrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Wide nosearrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
24 Reduced NK cell numberarrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
25 Reduced number of B cellsarrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
26 Interstitial lung diseasearrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
27 Reduced T cell countarrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
28 Scoliosisarrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
29 Lymphomaarrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
30 Abnormal neutrophil physiologyarrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
31 Retained primary teetharrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
32 High palatearrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
33 Joint hypermobilityarrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)
34 Facial dysmorphismarrow icon 0 (0.0%) 1 (99.9%) 0 (0.0%)

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

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