IMD58
MCID: IMM193
MIFTS: 27

Immunodeficiency 58 (IMD58)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Immunodeficiency 58

MalaCards integrated aliases for Immunodeficiency 58:

Name: Immunodeficiency 58 57 12 72
Severe Combined Immunodeficiency Due to Carmil2 Deficiency 12 58 29 6
Imd58 57 12 72
Severe Combined Immunodeficiency Due to Rltpr Deficiency 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
variable manifestations


HPO:

31
immunodeficiency 58:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset childhood onset neonatal onset


Classifications:

Orphanet: 58  
Rare immunological diseases


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) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 58, is also known as severe combined immunodeficiency due to carmil2 deficiency. An important gene associated with Immunodeficiency 58 is CARMIL2 (Capping Protein Regulator And Myosin 1 Linker 2). Affiliated tissues include t cells, smooth muscle and b cells, and related phenotypes are failure to thrive and dysphagia

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has material basis in homozygous or compound heterozygous mutation in CARMIL2 on chromosome 16q22.1.

UniProtKB/Swiss-Prot : 72 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:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 dysphagia 31 very rare (1%) HP:0002015
3 chronic otitis media 31 very rare (1%) HP:0000389
4 short stature 31 very rare (1%) HP:0004322
5 ichthyosis 31 very rare (1%) HP:0008064
6 fatigue 31 very rare (1%) HP:0012378
7 recurrent upper respiratory tract infections 31 very rare (1%) HP:0002788
8 seborrheic dermatitis 31 very rare (1%) HP:0001051
9 asthma 31 very rare (1%) HP:0002099
10 chronic diarrhea 31 very rare (1%) HP:0002028
11 recurrent pneumonia 31 very rare (1%) HP:0006532
12 recurrent cutaneous abscess formation 31 very rare (1%) HP:0100838
13 cutaneous photosensitivity 31 very rare (1%) HP:0000992
14 verrucae 31 very rare (1%) HP:0200043
15 dysuria 31 very rare (1%) HP:0100518
16 recurrent aphthous stomatitis 31 very rare (1%) HP:0011107
17 bronchiectasis 31 very rare (1%) HP:0002110
18 chronic mucocutaneous candidiasis 31 very rare (1%) HP:0002728
19 colitis 31 very rare (1%) HP:0002583
20 esophagitis 31 very rare (1%) HP:0100633
21 muscle spasm 31 very rare (1%) HP:0003394
22 onychomycosis 31 very rare (1%) HP:0012203
23 nasal obstruction 31 very rare (1%) HP:0001742
24 allergic rhinitis 31 very rare (1%) HP:0003193
25 helicobacter pylori infection 31 very rare (1%) HP:0005202
26 psoriasiform lesion 31 very rare (1%) HP:0025526
27 chronic bronchitis 31 very rare (1%) HP:0004469
28 chronic pulmonary obstruction 31 very rare (1%) HP:0006510
29 molluscum contagiosum 31 very rare (1%) HP:0032163
30 cold urticaria 31 very rare (1%) HP:0410135
31 atrophic scars 31 HP:0001075
32 decreased t cell activation 31 HP:0005419
33 decreased specific antibody response to vaccination 31 HP:0032140

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
dysphagia
diarrhea
colitis
esophagitis
inflammatory bowel disease
more
Skin Nails Hair Skin:
ichthyosis
seborrheic dermatitis
atrophic scars
scaly skin
desquamation
more
Head And Neck Nose:
allergic rhinitis

Growth Height:
short stature (in some patients)

Head And Neck Mouth:
oral candidiasis
thrush
aphthous stomatitis

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

Immunology:
molluscum contagiosum
hypogammaglobulinemia (in some patients)
poor antibody response
decreased memory b cells
autoantibodies (in some patients)
more
Respiratory:
respiratory infections, recurrent

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 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 58

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 58

Genetic Tests for Immunodeficiency 58

Genetic tests related to Immunodeficiency 58:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Due to Carmil2 Deficiency 29 CARMIL2

Anatomical Context for Immunodeficiency 58

MalaCards organs/tissues related to Immunodeficiency 58:

40
T Cells, Smooth Muscle, B Cells

Publications for Immunodeficiency 58

Articles related to Immunodeficiency 58:

# Title Authors PMID Year
1
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency. 57 6
29479355 2018
2
A human immunodeficiency syndrome caused by mutations in CARMIL2. 6 57
28112205 2017
3
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. 57 6
27896283 2016
4
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. 6 57
27647349 2016
5
Computer analysis of the amino acid sequences in gp41 of apathogenic African green monkey (AGM) virus, less pathogenic HIV-2 and highly pathogenic SIV and HIV-1 lentiviruses. 61
1335629 1992

Variations for Immunodeficiency 58

ClinVar genetic disease variations for Immunodeficiency 58:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CARMIL2 NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs) Duplication Pathogenic 266035 rs886041043 GRCh37: 16:67680638-67680639
GRCh38: 16:67646735-67646736
2 CARMIL2 NM_001013838.3(CARMIL2):c.871+1G>T SNV Pathogenic 266036 rs886041044 GRCh37: 16:67681506-67681506
GRCh38: 16:67647603-67647603
3 CARMIL2 NM_001013838.3(CARMIL2):c.2536_2548del (p.Leu846fs) Deletion Pathogenic 565284 rs1567632829 GRCh37: 16:67685694-67685706
GRCh38: 16:67651791-67651803
4 CARMIL2 NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs) Deletion Pathogenic 977751 GRCh37: 16:67683386-67683386
GRCh38: 16:67649483-67649483
5 CARMIL2 NM_001013838.3(CARMIL2):c.1574T>A (p.Leu525Gln) SNV Pathogenic 565279 rs1567629943 GRCh37: 16:67682860-67682860
GRCh38: 16:67648957-67648957
6 CARMIL2 NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter) SNV Pathogenic 565280 rs1567632864 GRCh37: 16:67685717-67685717
GRCh38: 16:67651814-67651814
7 CARMIL2 NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) SNV Likely pathogenic 565281 rs775061512 GRCh37: 16:67683519-67683519
GRCh38: 16:67649616-67649616
8 CARMIL2 NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) SNV Likely pathogenic 565278 rs1567628757 GRCh37: 16:67681998-67681998
GRCh38: 16:67648095-67648095
9 CARMIL2 NM_001013838.3(CARMIL2):c.958+1G>C SNV Likely pathogenic 982945 GRCh37: 16:67681670-67681670
GRCh38: 16:67647767-67647767
10 CARMIL2 NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) SNV Likely pathogenic 565285 rs1567626023 GRCh37: 16:67679643-67679643
GRCh38: 16:67645740-67645740
11 CARMIL2 NM_001013838.3(CARMIL2):c.3827G>A (p.Arg1276Lys) SNV Uncertain significance 1028933 GRCh37: 16:67690339-67690339
GRCh38: 16:67656436-67656436
12 CARMIL2 NM_001013838.3(CARMIL2):c.745G>A (p.Glu249Lys) SNV Uncertain significance 1028934 GRCh37: 16:67681259-67681259
GRCh38: 16:67647356-67647356

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

72
# Symbol AA change Variation ID SNP ID
1 CARMIL2 p.Arg50Thr VAR_081149 rs156762602
2 CARMIL2 p.Leu372Arg VAR_081150 rs156762875
3 CARMIL2 p.Leu525Gln VAR_081151 rs156762994
4 CARMIL2 p.Leu639His VAR_081152 rs775061512

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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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