IMD58
MCID: IMM193
MIFTS: 15

Immunodeficiency 58 (IMD58)

Categories: Genetic diseases, Immune diseases, Skin diseases

Aliases & Classifications for Immunodeficiency 58

MalaCards integrated aliases for Immunodeficiency 58:

Name: Immunodeficiency 58 57 6
Imd58 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
variable manifestations


Classifications:



External Ids:

OMIM 57 618131

Summaries for Immunodeficiency 58

OMIM : 57 Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018). (618131)

MalaCards based summary : Immunodeficiency 58, is also known as imd58. An important gene associated with Immunodeficiency 58 is CARMIL2 (Capping Protein Regulator And Myosin 1 Linker 2). Affiliated tissues include t cells, skin and smooth muscle.

Related Diseases for Immunodeficiency 58

Symptoms & Phenotypes for Immunodeficiency 58

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia
diarrhea
esophagitis
colitis
inflammatory bowel disease
more
Skin Nails Hair Skin:
ichthyosis
seborrheic dermatitis
atrophic scars
scaly skin
mucocutaneous candidiasis
more
Head And Neck Nose:
allergic rhinitis

Respiratory:
respiratory infections, recurrent

Immunology:
hypogammaglobulinemia (in some patients)
poor antibody response
decreased memory b cells
autoantibodies (in some patients)
increased susceptibility to infections, viral, bacterial, fungal
more
Skin Nails Hair Hair:
scarring alopecia

Skin Nails Hair Nails:
onychia
perionychia

Head And Neck Ears:
chronic otitis media

Respiratory Lung:
asthma
bronchiectasis
chronic bronchitis

Growth Height:
short stature (in some patients)

Head And Neck Mouth:
oral candidiasis
thrush
aphthous stomatitis

Growth Other:
failure to thrive (in some patients)

Skin Nails Hair Skin Histology:
spongiosis
psoriasiform hyperplastic epidermis
perivascular infiltrate containing cd8+ t cells

Neoplasia:
smooth muscle tumors, diffuse, ebv-related (in some patients)


Clinical features from OMIM:

618131

Drugs & Therapeutics for Immunodeficiency 58

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 58

Genetic Tests for Immunodeficiency 58

Anatomical Context for Immunodeficiency 58

MalaCards organs/tissues related to Immunodeficiency 58:

41
T Cells, Skin, Smooth Muscle, B Cells

Publications for Immunodeficiency 58

Variations for Immunodeficiency 58

ClinVar genetic disease variations for Immunodeficiency 58:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CARMIL2 NM_001013838.2(CARMIL2): c.490dup (p.Ala164Glyfs) duplication Pathogenic rs886041043 GRCh38 Chromosome 16, 67646737: 67646737
2 CARMIL2 NM_001013838.2(CARMIL2): c.490dup (p.Ala164Glyfs) duplication Pathogenic rs886041043 GRCh37 Chromosome 16, 67680640: 67680640
3 CARMIL2 NM_001013838.2(CARMIL2): c.871+1G> T single nucleotide variant Pathogenic rs886041044 GRCh37 Chromosome 16, 67681506: 67681506
4 CARMIL2 NM_001013838.2(CARMIL2): c.871+1G> T single nucleotide variant Pathogenic rs886041044 GRCh38 Chromosome 16, 67647603: 67647603
5 CARMIL2 NM_001013838.2(CARMIL2): c.1115T> G (p.Leu372Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 67648095: 67648095
6 CARMIL2 NM_001013838.2(CARMIL2): c.1115T> G (p.Leu372Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 67681998: 67681998
7 CARMIL2 NM_001013838.2(CARMIL2): c.1574T> A (p.Leu525Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 67682860: 67682860
8 CARMIL2 NM_001013838.2(CARMIL2): c.1574T> A (p.Leu525Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 67648957: 67648957
9 CARMIL2 NM_001013838.2(CARMIL2): c.2557C> T (p.Gln853Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 67685717: 67685717
10 CARMIL2 NM_001013838.2(CARMIL2): c.2557C> T (p.Gln853Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 67651814: 67651814
11 CARMIL2 NM_001013838.2(CARMIL2): c.1916T> A (p.Leu639His) single nucleotide variant Pathogenic rs775061512 GRCh37 Chromosome 16, 67683519: 67683519
12 CARMIL2 NM_001013838.2(CARMIL2): c.1916T> A (p.Leu639His) single nucleotide variant Pathogenic rs775061512 GRCh38 Chromosome 16, 67649616: 67649616
13 CARMIL2 NM_001013838.2(CARMIL2): c.2536_2548del (p.Leu846Serfs) deletion Pathogenic GRCh37 Chromosome 16, 67685696: 67685708
14 CARMIL2 NM_001013838.2(CARMIL2): c.2536_2548del (p.Leu846Serfs) deletion Pathogenic GRCh38 Chromosome 16, 67651793: 67651805
15 CARMIL2 NM_001013838.2(CARMIL2): c.149G> C (p.Arg50Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 67679643: 67679643
16 CARMIL2 NM_001013838.2(CARMIL2): c.149G> C (p.Arg50Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 67645740: 67645740

Expression for Immunodeficiency 58

Search GEO for disease gene expression data for Immunodeficiency 58.

Pathways for Immunodeficiency 58

GO Terms for Immunodeficiency 58

Sources for Immunodeficiency 58

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....