IMD58
MCID: IMM193
MIFTS: 23

Immunodeficiency 58 (IMD58)

Categories: Genetic diseases, Immune diseases, Skin diseases

Aliases & Classifications for Immunodeficiency 58

MalaCards integrated aliases for Immunodeficiency 58:

Name: Immunodeficiency 58 58 76 6
Imd58 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
variable manifestations


Classifications:



Summaries for Immunodeficiency 58

OMIM : 58 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 b cells, and related phenotypes are decreased antibody level in blood and dysphagia

UniProtKB/Swiss-Prot : 76 Immunodeficiency 58: An autosomal recessive primary immunodeficiency characterized by a variety of infectious diseases, including mycobacterial diseases, mucocutaneous candidiasis, silent but detectable EBV viremia, and staphylococcal diseases. Patients suffer from dermatitis, esophagitis, recurrent skin abscesses and chest infections. Immunologic analysis shows defective T-cell function and deficient CD3/CD28 stimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired.

Related Diseases for Immunodeficiency 58

Symptoms & Phenotypes for Immunodeficiency 58

Human phenotypes related to Immunodeficiency 58:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 decreased antibody level in blood 33 very rare (1%) HP:0004313
2 dysphagia 33 HP:0002015
3 ichthyosis 33 HP:0008064
4 scaling skin 33 HP:0040189
5 seborrheic dermatitis 33 HP:0001051
6 asthma 33 HP:0002099
7 diarrhea 33 HP:0002014
8 esophagitis 33 HP:0100633
9 chronic mucocutaneous candidiasis 33 HP:0002728
10 bronchiectasis 33 HP:0002110
11 verrucae 33 HP:0200043
12 recurrent aphthous stomatitis 33 HP:0011107
13 atrophic scars 33 HP:0001075
14 colitis 33 HP:0002583
15 chronic bronchitis 33 HP:0004469
16 molluscum contagiosum 33 HP:0032163

Symptoms via clinical synopsis from OMIM:

58
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:

42
T Cells, Skin, B Cells, Smooth Muscle

Publications for Immunodeficiency 58

Articles related to Immunodeficiency 58:

# Title Authors Year
1
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency. ( 29479355 )
2018
2
A human immunodeficiency syndrome caused by mutations in CARMIL2. ( 28112205 )
2017
3
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. ( 27896283 )
2016
4
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. ( 27647349 )
2016

Variations for Immunodeficiency 58

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 58:

76
# Symbol AA change Variation ID SNP ID
1 CARMIL2 p.Arg50Thr VAR_081149
2 CARMIL2 p.Leu372Arg VAR_081150
3 CARMIL2 p.Leu525Gln VAR_081151
4 CARMIL2 p.Leu639His VAR_081152 rs775061512

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 GRCh37 Chromosome 16, 67683519: 67683519
12 CARMIL2 NM_001013838.2(CARMIL2): c.1916T> A (p.Leu639His) single nucleotide variant Pathogenic 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

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