Information on IMD112
Basic details
Name: Immunodeficiency 112 | Acronym: IMD112
Alt. names: Primary immunodeficiency with multifaceted aberrant lymphoid immunity
Gene: MAP3K14 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
It is a primary immunologic disorder with variable manifestations beginning in early childhood. Some patients have recurrent bacterial, viral, and fungal infections, including disseminated bacillus Calmette-Guerin (BCG)-related infections, whereas at least 1 patient only presented with BCG-related infections. Immunologic workup shows variable abnormalities affecting lymphoid immunity, including hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and defects in B, T, and NK cell differentiation and function mainly due to disruption of the noncanonical NFKB signaling pathway (Willmann et al., 2014; Schlechter et al., 2017).[OMIM]
Management
Description of management option has not been reviewed yet.
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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 | Decreased IgA levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased IgM levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced number of B cells |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | BCGosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Childhood onset |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | Decreased IgG levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Decreased proportion of switched memory B cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | repeated bacterial infections |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 9 | Recurrent viral infections |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Reduced NK cell number |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 11 | BCGitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 12 | Chronic diarrhea |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Mucocutaneous candidiasis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Decreased proportion of gamma-delta T cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Increased number of B cells |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Increased T cell count |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Infantile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 18 | Recurrent lower respiratory tract infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Reduced T cell count |
0 (0.0%) | 0 (0.0%) | 3 (99.9%) |
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 |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.