IMD77
MCID: IMM238
MIFTS: 15

Immunodeficiency 77 (IMD77)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 77

MalaCards integrated aliases for Immunodeficiency 77:

Name: Immunodeficiency 77 57 6
Imd77 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
variable severity
variable age at onset (range childhood to adult)
female predilection

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM® 57 619223
OMIM Phenotypic Series 57 PS300755

Summaries for Immunodeficiency 77

OMIM® : 57 Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus. Treatment with gamma-IFN (IFNG; 147570) may be a therapeutic option (summary by McCormack et al., 2017 and Merselis et al., 2020). (619223) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 77, is also known as imd77. An important gene associated with Immunodeficiency 77 is MPEG1 (Macrophage Expressed 1). Affiliated tissues include skin.

Related Diseases for Immunodeficiency 77

Symptoms & Phenotypes for Immunodeficiency 77

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
recurrent infections
bacterial infections
fungal infections
nontuberculous mycobacterial infections
polymicrobial infections
more
Head And Neck Mouth:
oral candidiasis

Skin Nails Hair Skin:
skin infections

Respiratory Lung:
bronchiectasis

Respiratory:
pulmonary infections, recurrent

Muscle Soft Tissue:
soft tissue infections

Clinical features from OMIM®:

619223 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 77

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 77

Genetic Tests for Immunodeficiency 77

Anatomical Context for Immunodeficiency 77

MalaCards organs/tissues related to Immunodeficiency 77:

40
Skin

Publications for Immunodeficiency 77

Articles related to Immunodeficiency 77:

# Title Authors PMID Year
1
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy. 6 57
33224153 2020
2
MPEG1/perforin-2 mutations in human pulmonary nontuberculous mycobacterial infections. 6 57
28422754 2017
3
Growth response to antiretroviral treatment in HIV-infected children: a cohort study from Lilongwe, Malawi. 61
20561308 2010

Variations for Immunodeficiency 77

ClinVar genetic disease variations for Immunodeficiency 77:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPEG1 NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala) SNV Pathogenic 1035586 GRCh37: 11:58980122-58980122
GRCh38: 11:59212649-59212649
2 MPEG1 NM_001039396.2(MPEG1):c.1192C>T (p.Gln398Ter) SNV Pathogenic 1035588 GRCh37: 11:58979147-58979147
GRCh38: 11:59211674-59211674
3 MPEG1 NM_001039396.2(MPEG1):c.1213C>A (p.Pro405Thr) SNV Pathogenic 1035590 GRCh37: 11:58979126-58979126
GRCh38: 11:59211653-59211653
4 MPEG1 NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter) SNV Pathogenic 978045 GRCh37: 11:58979049-58979049
GRCh38: 11:59211576-59211576

Expression for Immunodeficiency 77

Search GEO for disease gene expression data for Immunodeficiency 77.

Pathways for Immunodeficiency 77

GO Terms for Immunodeficiency 77

Sources for Immunodeficiency 77

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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