Information on IMD22
Basic details
Name: Immunodeficiency 22 | Acronym: IMD22
Alt. names:
Gene: LCK | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 7 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 9664084; 11351273; 22985903
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.
7 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
106491 |
F | 216044 |
3 | 1 | Definitive | France | PMID:22985903 [Fam.1:II.1(patient)] | |
| 106715 |
F | 216119 |
29 | 6 | Definitive | China | Chinese (China) | PMID:27087313 [Fam.1:V.1(P1)] |
| 106718 |
M | 216119 |
24 | 7 | Definitive | China | Chinese (China) | PMID:27087313 [Fam.1:V.2(P2)] |
| 106719 |
F | 216119 |
21 | 8 | Definitive | China | Chinese (China) | PMID:27087313 [Fam.1:V.3(P3)] |
| 106843 |
M | 216168 | Definitive | Saudi | PMID:37962568 [Fam.1:II.2(P1)] | |||
| 106846 |
M | 216168 | Definitive | Saudi | PMID:37962568 [Fam.1:II.3(P2)] | |||
| 106908 |
F | 216185 | 1 | 1 | Definitive | Turkey | Syrian | PMID:38100037 [P1(II.6)] |
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 infection |
4 (57.1%) | 0 (0.0%) | 3 (42.9%) |
| 2 | Lung disease |
4 (57.1%) | 0 (0.0%) | 3 (42.9%) |
| 3 | Pneumonia |
4 (57.1%) | 0 (0.0%) | 3 (42.9%) |
| 4 | Epidermodysplasia verruciformis |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 5 | Pityriasis rosea |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 6 | Decreased proportion of CD4 Th cells |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 7 | Warts |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 8 | Squamous cell carcinoma of the skin |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 9 | (unusual) Viral infection |
2 (28.6%) | 1 (14.3%) | 4 (57.1%) |
| 10 | Reduced proportion of naive CD8 T cells |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 11 | Retinal vasculitis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 12 | Reduced ab-response to tetanus vaccine |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 13 | negative ab-response to diphtheria vaccine |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 14 | Predominantly dermal neutrophilic infiltrate |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 15 | Hematopoietic stem cell transplantation |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 16 | Recurrent lower respiratory tract infections |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 17 | Recurrent upper respiratory tract infection |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 18 | Histiocytosis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 19 | Predominantly hypodermal neutrophilic infiltrate |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 20 | Antinuclear antibodies |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 21 | Normocytic anemia |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 22 | Recurrent fevers |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 23 | Rheumatoid factor positive |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 24 | Dyspnea |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 25 | Autoimmunity |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 26 | Autoimmune thrombocytopenia |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 27 | Autoimmune cytopenia |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 28 | Reduced proportion of naive CD4 T cells |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 29 | Protracted diarrhea |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 30 | Failure to thrive |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 31 | pericarditis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 32 | Arthritis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 33 | Ascites |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 34 | Cutaneous abscess |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 35 | Autoimmune antibody positivity |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 36 | Reduced proportion of CD4 T cells |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 37 | Localized skin lesion |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 38 | Pneumatocele |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 39 | Skin infections |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 40 | Panniculitis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 41 | Anti-dsDNA antibody positivity |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 42 | Herpes Simplex Virus Infection |
0 (0.0%) | 3 (42.9%) | 4 (57.1%) |
| 43 | Granulomatosis |
0 (0.0%) | 1 (14.3%) | 6 (85.7%) |
| 44 | HIV Infection |
0 (0.0%) | 3 (42.9%) | 4 (57.1%) |
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 |
|---|---|
| Immunosuppressive agents | Mild (1) for Fever & Localized skin lesion. Moderate (1) for Localized skin lesion |
| Anti-TNF drug | Moderate (1) for Localized skin lesion |
| Corticosteroids | Mild (1) for Fever & Localized skin lesion |
| Intravenous immunoglobulin therapy | Good (1) for Hypogammaglobulinemia. Unspecified (1) for unspecified |
| Antibiotics | Absent (1) for Fever & Localized skin lesion. Unspecified (1) for unspecified |
| Antifungal agents | Absent (1) for Fever & Localized skin lesion |
| Hematopoietic stem cell transplantation | Negative/Bad (1) for unspecified |
| Co-trimoxazole | Unspecified (1) for unspecified |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.