IMD13
MCID: IMM070
MIFTS: 35

Immunodeficiency 13 (IMD13)

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

Aliases & Classifications for Immunodeficiency 13

MalaCards integrated aliases for Immunodeficiency 13:

Name: Immunodeficiency 13 58 76 30 6 74
Idiopathic Cd4 Lymphopenia 58 76
Imd13 58 76
Icl 58 76
Idiopathic Cd4 Lymphopenia; Icl 58
Idiopathic Cd4 Lymphocytopenia 60
Immunodeficiency, Type 13 41

Characteristics:

Orphanet epidemiological data:

60
idiopathic cd4 lymphocytopenia
Inheritance: Not applicable; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on 1 reported patient (last curated november 2013)


HPO:

33
immunodeficiency 13:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 615518
MeSH 45 D007153
ICD10 via Orphanet 35 D72.8
Orphanet 60 ORPHA228000
UMLS 74 C3809768

Summaries for Immunodeficiency 13

OMIM : 58 Idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of immunodeficiency. ICL predisposes to infections and malignancy (summary by Gorska and Alam, 2012). (615518)

MalaCards based summary : Immunodeficiency 13, also known as idiopathic cd4 lymphopenia, is related to idiopathic cd4-positive t-lymphocytopenia and lymphopenia. An important gene associated with Immunodeficiency 13 is UNC119 (Unc-119 Lipid Binding Chaperone). The drugs Adenosine and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include t cells, brain and colon, and related phenotypes are immunodeficiency and recurrent otitis media

UniProtKB/Swiss-Prot : 76 Immunodeficiency 13: A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy.

Related Diseases for Immunodeficiency 13

Diseases related to Immunodeficiency 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 idiopathic cd4-positive t-lymphocytopenia 11.3
2 lymphopenia 10.6
3 myopia 10.5
4 progressive multifocal leukoencephalopathy 10.4
5 keratoconus 10.3
6 astigmatism 10.2
7 cryptococcal meningitis 10.2
8 meningitis 10.2
9 hematopoietic stem cell transplantation 10.1
10 histoplasmosis 10.1
11 pneumonia 10.1
12 mucormycosis 10.1
13 molluscum contagiosum 10.1
14 cryptococcosis 10.1
15 fanconi anemia, complementation group a 10.1
16 presbyopia 10.1
17 acute closed-angle glaucoma 10.1
18 autoimmune disease 10.0
19 kaposi sarcoma 10.0
20 myositis 10.0
21 lymphoma, hodgkin, classic 10.0
22 mycosis fungoides 10.0
23 sjogren syndrome 10.0
24 lymphoma, non-hodgkin, familial 10.0
25 autoimmune disease 1 10.0
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
27 diffuse large b-cell lymphoma 10.0
28 igg4-related disease 10.0
29 osteomyelitis 10.0
30 protein-losing enteropathy 10.0
31 blastomycosis 10.0
32 polyneuropathy 10.0
33 papilloma 10.0
34 retinitis 10.0
35 vasculitis 10.0
36 chickenpox 10.0
37 leishmaniasis 10.0
38 visceral leishmaniasis 10.0
39 orbit lymphoma 10.0
40 bowenoid papulosis 10.0
41 glioma 10.0
42 laryngeal papillomatosis 10.0
43 orbital lymphoma 10.0
44 epidermodysplasia verruciformis 1 10.0
45 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
46 lymphoma 10.0
47 meningoencephalitis 10.0
48 human immunodeficiency virus infectious disease 10.0
49 frasier syndrome 9.9
50 neutrophil migration 9.9

Graphical network of the top 20 diseases related to Immunodeficiency 13:



Diseases related to Immunodeficiency 13

Symptoms & Phenotypes for Immunodeficiency 13

Human phenotypes related to Immunodeficiency 13:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 recurrent otitis media 33 HP:0000403
3 lymphopenia 33 HP:0001888
4 pneumonia 33 HP:0002090
5 recurrent sinusitis 33 HP:0011108
6 bronchiolitis obliterans organizing pneumonia 33 HP:0011945
7 recurrent shingles 33 HP:0032275

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
recurrent otitis media

Respiratory Nasopharynx:
recurrent sinusitis

Respiratory Lung:
recurrent bacterial pneumonia
bronchiolitis obliterans organizing pneumonia

Skin Nails Hair Nails:
persistent severe fungal infections of fingernails and toenails
partial loss of nails

Immunology:
lymphopenia
reduced cd4 t-lymphocyte counts
reduced cd3 t-lymphocyte counts
severely reduced response to mitogens
severely reduced response to candida and tetanus toxoid antigens
more
Head And Neck Mouth:
herpetic lesions

Skin Nails Hair Skin:
recurrent shingles
fungal dermatitis

Clinical features from OMIM:

615518

Drugs & Therapeutics for Immunodeficiency 13

Drugs for Immunodeficiency 13 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2
carbamide peroxide Approved 124-43-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interleukin-7 (CYT107) Treatment of Idiopathic CD4 Lymphocytopenia: Expansion of CD4 T Cells (ICICLE) Terminated NCT00839436 Phase 1, Phase 2 CYT107
2 Idiopathic CD4 Lymphocytopenia Completed NCT02113930
3 Evaluation of HIV-Negative Patients With Low CD4+ T Lymphocyte Counts Completed NCT00001319
4 Hematopoietic Stem Cell Mobilization in Idiopathic CD4 Lymphocytopenia Patients and Healthy Controls for the Study of T Cell Maturation and Trafficking in Murine Models Recruiting NCT02015013
5 Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ Lymphocytopenia Recruiting NCT00867269
6 MGuard™ Prime Embolic Protection Stent in Patients With Acute ST Elevation Myocardial Infarction Terminated NCT02292823

Search NIH Clinical Center for Immunodeficiency 13

Genetic Tests for Immunodeficiency 13

Genetic tests related to Immunodeficiency 13:

# Genetic test Affiliating Genes
1 Immunodeficiency 13 30 UNC119

Anatomical Context for Immunodeficiency 13

MalaCards organs/tissues related to Immunodeficiency 13:

42
T Cells, Brain, Colon, Neutrophil, B Cells

Publications for Immunodeficiency 13

Articles related to Immunodeficiency 13:

(show all 18)
# Title Authors Year
1
Idiopathic CD4 lymphopenia in a case of disseminated cryptococcosis with brain, vertebral spine and reproductive organ involvement. ( 30872296 )
2019
2
Cryptococcal meningitis in apparently immunocompetent patients: association with idiopathic CD4+ lymphopenia. ( 29223998 )
2018
3
Susceptibility to Cryptococcal Meningoencephalitis Associated With Idiopathic CD4+ Lymphopenia and Secondary Germline or Acquired Defects. ( 28638843 )
2017
4
Idiopathic CD4 Lymphopenia: Severe CD4 Lymphopenia in the Absence of Human Immunodeficiency Virus Infection. ( 28471626 )
2016
5
DUSP4-mediated accelerated T-cell senescence in idiopathic CD4 lymphopenia. ( 25733583 )
2015
6
Preservation of T-Helper Type 17 Cells in Idiopathic CD4+ Lymphopenia: A New Perspective Relevant to HIV Infection? ( 25995197 )
2015
7
T-Cell Depletion in the Colonic Mucosa of Patients With Idiopathic CD4+ Lymphopenia. ( 25995198 )
2015
8
Idiopathic CD4 lymphopenia associated with neuroinvasive West Nile disease: case report and review of the literature. ( 24231158 )
2014
9
A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. ( 22184408 )
2012
10
Decreased interleukin 7 responsiveness of T lymphocytes in patients with idiopathic CD4 lymphopenia. ( 22454463 )
2012
11
Consequences of a mutation in the UNC119 gene for T cell function in idiopathic CD4 lymphopenia. ( 22729960 )
2012
12
Disfiguring generalized verrucosis in an indonesian man with idiopathic CD4 lymphopenia. ( 20083696 )
2010
13
Safety and efficacy of treatment using interleukin-2 in a patient with idiopathic CD4(+) lymphopenia and Mycobacterium avium-intracellulare. ( 19438596 )
2009
14
Two patients with cryptococcal meningitis and idiopathic CD4 lymphopenia: defective cytokine production and reversal by recombinant interferon- gamma therapy. ( 15494899 )
2004
15
Recurrent 'sterile' verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia. ( 14511000 )
2003
16
Muscular-skeletal cryptococcosis in a patient with idiopathic CD4+ lymphopenia. ( 11307596 )
2001
17
Non-Hodgkin's lymphoma: an unusual complication of idiopathic CD4+ lymphopenia. ( 9798552 )
1998
18
HIV-negative "AIDS" in Kentucky: a case of idiopathic CD4+ lymphopenia and cryptococcal meningitis. ( 8023211 )
1994

Variations for Immunodeficiency 13

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 13:

76
# Symbol AA change Variation ID SNP ID
1 UNC119 p.Gly22Val VAR_071184 rs199714731

ClinVar genetic disease variations for Immunodeficiency 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UNC119 NM_005148.3(UNC119): c.65G> T (p.Gly22Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199714731 GRCh37 Chromosome 17, 26879511: 26879511
2 UNC119 NM_005148.3(UNC119): c.65G> T (p.Gly22Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199714731 GRCh38 Chromosome 17, 28552493: 28552493
3 UNC119 NM_005148.3(UNC119): c.502C> T (p.Arg168Cys) single nucleotide variant Uncertain significance rs146916036 GRCh38 Chromosome 17, 28547785: 28547785
4 UNC119 NM_005148.3(UNC119): c.502C> T (p.Arg168Cys) single nucleotide variant Uncertain significance rs146916036 GRCh37 Chromosome 17, 26874803: 26874803

Expression for Immunodeficiency 13

Search GEO for disease gene expression data for Immunodeficiency 13.

Pathways for Immunodeficiency 13

GO Terms for Immunodeficiency 13

Sources for Immunodeficiency 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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