IMD13
MCID: IMM070
MIFTS: 41

Immunodeficiency 13 (IMD13)

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

Aliases & Classifications for Immunodeficiency 13

MalaCards integrated aliases for Immunodeficiency 13:

Name: Immunodeficiency 13 57 12 72 29 6 15 70
Idiopathic Cd4 Lymphopenia 57 12 72
Imd13 57 12 72
Icl 57 12 72
Idiopathic Cd4 Lymphopenia; Icl 57
Idiopathic Cd4 Lymphocytopenia 58
Immunodeficiency, Type 13 39

Characteristics:

Orphanet epidemiological data:

58
idiopathic cd4 lymphocytopenia
Inheritance: Not applicable; Age of onset: Adult;

OMIM®:

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

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


HPO:

31
immunodeficiency 13:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111987
OMIM® 57 615518
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D72.8
Orphanet 58 ORPHA228000
UMLS 70 C3809768

Summaries for Immunodeficiency 13

OMIM® : 57 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) (Updated 20-May-2021)

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

Disease Ontology : 12 A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has material basis in heterozygous mutation in UNC119 on chromosome 17q11.2.

UniProtKB/Swiss-Prot : 72 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 187)
# Related Disease Score Top Affiliating Genes
1 lymphopenia 30.9 MAGT1 LCK IL7
2 chickenpox 30.8 ICOSLG DOCK8 CD4
3 human immunodeficiency virus infectious disease 30.2 IL7 ICOSLG CD4
4 t cell deficiency 30.1 IL7 ICOSLG DOCK8 CD4
5 epidermodysplasia verruciformis 1 29.6 STK4 IL7 DOCK8 CD4
6 mycobacterium tuberculosis 1 29.5 IL7 ICOSLG CD4
7 idiopathic cd4-positive t-lymphocytopenia 11.2
8 immunodeficiency, common variable, 13 11.0
9 myopia 10.6
10 progressive multifocal leukoencephalopathy 10.5
11 astigmatism 10.4
12 refractive error 10.4
13 polyradiculopathy 10.3 ICOSLG CD4
14 acquired immunodeficiency syndrome 10.3
15 ceftazidime allergy 10.3 IL7 CD4
16 autoimmune peripheral neuropathy 10.3 ICOSLG CD4
17 autoimmune neuropathy 10.3 ICOSLG CD4
18 dacryoadenitis 10.3 ICOSLG CD4
19 suppurative lymphadenitis 10.3 DOCK8 CD4
20 blepharoconjunctivitis 10.3 DOCK8 CD4
21 external ear disease 10.3 DOCK8 CD4
22 legume allergy 10.3 ICOSLG CD4
23 otitis externa 10.3 DOCK8 CD4
24 candidiasis 10.3
25 histoplasmosis 10.3
26 demyelinating disease 10.3
27 mucormycosis 10.3
28 fruit allergy 10.2 ICOSLG CD4
29 cryptococcal meningitis 10.2
30 meningitis 10.2
31 lung abscess 10.2 DOCK8 CD4
32 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.2 DOCK8 CD4
33 acute proliferative glomerulonephritis 10.2 ICOSLG CD4
34 hyper ige recurrent infection syndrome 1 10.2 DOCK8 CD4
35 immunodeficiency 16 10.2 ICOSLG CD4
36 selective immunoglobulin deficiency disease 10.2 MAGT1 ICOSLG
37 keratoconus 10.2
38 aniseikonia 10.2 LCK CD4
39 immunodeficiency with hyper-igm, type 3 10.2 ICOSLG DOCK8 CD4
40 leukocyte disease 10.2 IL7 ICOSLG CD4
41 chronic conjunctivitis 10.2 ICOSLG CD4
42 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.2 ICOSLG DOCK8 CD4
43 autoimmune cardiomyopathy 10.2 LCK ICOSLG
44 cd40 ligand deficiency 10.2 ICOSLG DOCK8 CD4
45 dysgammaglobulinemia 10.2 MAGT1 ICOSLG
46 opportunistic mycosis 10.2 ICOSLG DOCK8 CD4
47 fungal infectious disease 10.2 ICOSLG DOCK8 CD4
48 b cell deficiency 10.2 ICOSLG DOCK8 CD4
49 kaposi sarcoma 10.2
50 ataxia and polyneuropathy, adult-onset 10.2

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 recurrent otitis media 31 HP:0000403
3 lymphopenia 31 HP:0001888
4 pneumonia 31 HP:0002090
5 recurrent sinusitis 31 HP:0011108
6 bronchiolitis obliterans organizing pneumonia 31 HP:0011945
7 recurrent shingles 31 HP:0032275

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
recurrent otitis media

Respiratory Nasopharynx:
recurrent sinusitis

Skin Nails Hair Skin:
recurrent shingles
fungal dermatitis

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
Respiratory Lung:
bronchiolitis obliterans organizing pneumonia
recurrent bacterial pneumonia

Head And Neck Mouth:
herpetic lesions

Clinical features from OMIM®:

615518 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Immunodeficiency 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.36 CD4 CLCN3 DOCK8 IL7 LCK LRRC8A

Drugs & Therapeutics for Immunodeficiency 13

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2 135968-09-1
2
carbamide peroxide Approved Phase 2 124-43-6
3 Anti-Infective Agents Phase 2
4 Plerixafor octahydrochloride Phase 2
5 Anti-Retroviral Agents Phase 2
6 Anti-HIV Agents Phase 2
7 Antiviral Agents Phase 2
8
belimumab Approved Phase 1 356547-88-1 5957 10451420
9 Autoantibodies Phase 1
10 Interleukin-4 Phase 1
11
Adenosine Approved, Investigational 58-61-7 60961

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Phase 2 Plerixafor
2 Interleukin-7 (CYT107) Treatment of Idiopathic CD4 Lymphocytopenia: Expansion of CD4 T Cells (ICICLE) Terminated NCT00839436 Phase 1, Phase 2 CYT107
3 A Phase I Evaluation of the Safety of Belimumab in People With Idiopathaic CD4 Lymphopenia and Autoantibodies (Phoebe) Recruiting NCT04097561 Phase 1
4 Analysis of Clinical and Immunological Characteristics, as Well as Pathophysiological Mechanisms in a French Cohort of Patients With Idiopathic CD4 Lymphocytopenia Completed NCT02113930
5 Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ Lymphocytopenia Recruiting NCT00867269

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 29 UNC119

Anatomical Context for Immunodeficiency 13

MalaCards organs/tissues related to Immunodeficiency 13:

40
T Cells, Thymus, Lung, Skin, Cervix, Myeloid

Publications for Immunodeficiency 13

Articles related to Immunodeficiency 13:

# Title Authors PMID Year
1
A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. 6 57
22184408 2012
2
Gastrointestinal Pathologic Abnormalities in Pediatric- and Adult-Onset Common Variable Immunodeficiency. 61
25821101 2015
3
[Pulmonary complications in pediatric patients with primary immunodeficiency]. 61
25946525 2015
4
Neutropenia in patients with primary antibody deficiency disorders. 61
17301396 2004

Variations for Immunodeficiency 13

ClinVar genetic disease variations for Immunodeficiency 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UNC119 NM_054035.2(UNC119):c.502C>T (p.Arg168Cys) SNV Uncertain significance 322464 rs146916036 GRCh37: 17:26874803-26874803
GRCh38: 17:28547785-28547785
2 UNC119 NM_005148.4(UNC119):c.*1C>T SNV Benign 259652 rs2070139 GRCh37: 17:26874314-26874314
GRCh38: 17:28547296-28547296
3 UNC119 NM_054035.2(UNC119):c.65G>T (p.Gly22Val) SNV Benign 88737 rs199714731 GRCh37: 17:26879511-26879511
GRCh38: 17:28552493-28552493

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

72
# Symbol AA change Variation ID SNP ID
1 UNC119 p.Gly22Val VAR_071184 rs199714731

Expression for Immunodeficiency 13

Search GEO for disease gene expression data for Immunodeficiency 13.

Pathways for Immunodeficiency 13

GO Terms for Immunodeficiency 13

Cellular components related to Immunodeficiency 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel complex GO:0034702 8.8 LRRC8E LRRC8B LRRC8A

Biological processes related to Immunodeficiency 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.43 MAGT1 LRRC8E LRRC8B LRRC8A CLCN3 ANO4
2 anion transmembrane transport GO:0098656 9.33 LRRC8E LRRC8B LRRC8A
3 positive regulation of T cell activation GO:0050870 9.32 LCK CD4
4 aspartate transmembrane transport GO:0015810 9.26 LRRC8E LRRC8A
5 inorganic anion transport GO:0015698 8.8 LRRC8E LRRC8B LRRC8A

Molecular functions related to Immunodeficiency 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 volume-sensitive anion channel activity GO:0005225 8.8 LRRC8E LRRC8B LRRC8A

Sources for Immunodeficiency 13

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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