Information on IMD22
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 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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | (unusual) Respiratory tract infection |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Lung disease |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Pneumonia |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Epidermodysplasia verruciformis |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 5 | Pityriasis rosea |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 6 | Decreased proportion of CD4 Th cells |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 7 | Warts |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 8 | Squamous cell carcinoma of the skin |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 9 | (unusual) Viral infection |
2 (50.0%) | 1 (25.0%) | 1 (25.0%) |
| 10 | Reduced proportion of naive CD8 T cells |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 11 | Retinal vasculitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 12 | Reduced ab-response to tetanus vaccine |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 13 | negative ab-response to diphtheria vaccine |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 14 | Predominantly dermal neutrophilic infiltrate |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 15 | Hematopoietic stem cell transplantation |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 16 | Recurrent lower respiratory tract infections |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 17 | Recurrent upper respiratory tract infections |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 18 | Histiocytosis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 19 | Predominantly hypodermal neutrophilic infiltrate |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 20 | Antinuclear antibodies |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 21 | Normocytic anemia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 22 | Recurrent fevers |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 23 | Rheumatoid factor positive |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 24 | Dyspnea |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 25 | Autoimmunity |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 26 | Autoimmune thrombocytopenia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 27 | Autoimmune cytopenia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 28 | Reduced proportion of naive CD4 T cells |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 29 | Protracted diarrhea |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 30 | Failure to thrive |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 31 | Pericarditis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 32 | Arthritis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 33 | Ascites |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 34 | Cutaneous abscess |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 35 | Autoimmune antibody positivity |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 36 | Reduced proportion of CD4 T cells |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 37 | Localized skin lesion |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 38 | Pneumatocele |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 39 | Frequent skin infections |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 40 | Panniculitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 41 | Anti-dsDNA antibody positivity |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 42 | Herpes Simplex Virus Infection |
0 (0.0%) | 3 (75.0%) | 1 (25.0%) |
| 43 | Granulomatosis |
0 (0.0%) | 1 (25.0%) | 3 (75.0%) |
| 44 | HIV Infection |
0 (0.0%) | 3 (75.0%) | 1 (25.0%) |
Age of onset
distribution
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 [Immunosuppressive agents] |
Moderate (1) for Localized skin lesion |
| Corticosteroids [Immunosuppressive agents] [Anti-Inflammatory agents] |
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 [Antibiotics] |
Unspecified (1) for unspecified |
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).