Immunodeficiency 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM082 MIFTS: 41	Immunodeficiency 18 Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Immunodeficiency 18

MalaCards integrated aliases for Immunodeficiency 18:

Name: Immunodeficiency 18 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Immunodeficiency 18, Severe Combined Immunodeficiency Variant ⁷⁵ ²⁹ ⁶

Immunodeficiency 18, Scid Variant ⁵⁷ ⁷⁵

Cd3-Epsilon Deficiency ⁵⁷ ⁷⁵

Cd3epsilon Deficiency ¹² ¹⁵

Imd18 ⁵⁷ ⁷⁵

Immunodeficiency, Type 18 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
two unrelated families have been reported (last curated january 2014)

HPO:

³²

immunodeficiency 18:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615615

Disease Ontology ¹² DOID:0060017

MedGen ⁴² C3810127 CN184330 CN184333

MeSH ⁴⁴ D007153

SNOMED-CT via HPO ⁶⁹ 258211005 48813009 234532001

UMLS ⁷³ C3810127

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Summaries for Immunodeficiency 18

OMIM : ⁵⁷ Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004). (615615)

MalaCards based summary : Immunodeficiency 18, also known as immunodeficiency 18, severe combined immunodeficiency variant, is related to t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta and immunodeficiency 19. An important gene associated with Immunodeficiency 18 is CD3E (CD3e Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and TCR Signaling (Qiagen). Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are recurrent otitis media and lymphopenia

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 18: An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.

Disease Ontology : ¹² A severe combined immunodeficiency that is an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.

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Related Diseases for Immunodeficiency 18

Diseases related to Immunodeficiency 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	10.3	CD3D CD3E
2	immunodeficiency 19	10.1	CD3D CD3G
3	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive	9.7	CD3D PTPRC
4	small intestine lymphoma	9.6	CD3E PTPRC
5	t cell deficiency	9.6	CD3G PTPRC
6	good syndrome	9.5
7	thymoma	9.5
8	severe combined immunodeficiency	9.3	CD3D CD3E PTPRC
9	immunodeficiency 17	9.3	CD3D CD3G PTPRC
10	follicular mucinosis	9.2	PTCRA PTPRC
11	precursor t-cell acute lymphoblastic leukemia	9.2	LMO1 PTCRA TAL1
12	combined immunodeficiency, x-linked	9.2	CD3D CD3G PTPRC
13	lymphoblastic lymphoma	9.0	PTPRC TAL1
14	t-cell leukemia	9.0	LMO1 PTCRA TAL1

Graphical network of the top 20 diseases related to Immunodeficiency 18:

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Symptoms & Phenotypes for Immunodeficiency 18

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
respiratory infections, recurrent

Head And Neck Ears:
otitis media, recurrent

Immunology:
primary immunodeficiency
normal b cells
decreased cd3 expression on t cells
decreased cytotoxic t cell activity
variably impaired t-cell proliferative responses
more

Abdomen Gastrointestinal:
gastroenteritis, recurrent

Clinical features from OMIM:

615615

Human phenotypes related to Immunodeficiency 18:

³² (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	recurrent otitis media ³²		HP:0000403
2	lymphopenia ³²	very rare (1%)	HP:0001888
3	recurrent respiratory infections ³²		HP:0002205
4	immunodeficiency ³²		HP:0002721
5	defective t cell proliferation ³²	occasional (7.5%)	HP:0030253
6	recurrent gastroenteritis ³²		HP:0031123
7	decreased proportion of cd3-positive t cells ³²		HP:0045080

MGI Mouse Phenotypes related to Immunodeficiency 18:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.43	CD3D CD3E CD3G PTCRA PTPRC TAL1
2	immune system	MP:0005387	9.1	CD3D CD3E CD3G PTCRA PTPRC TAL1

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Drugs & Therapeutics for Immunodeficiency 18

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Comparing Inflammatory Markers in Patients With and Without Depression With Chronic Periodontitis	Not yet recruiting	NCT03553095	Not Applicable

Search NIH Clinical Center for Immunodeficiency 18

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Genetic Tests for Immunodeficiency 18

Genetic tests related to Immunodeficiency 18:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 18, Severe Combined Immunodeficiency Variant ²⁹
2	Immunodeficiency 18 ²⁹	CD3E

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Anatomical Context for Immunodeficiency 18

MalaCards organs/tissues related to Immunodeficiency 18:

⁴¹

T Cells, B Cells, Nk Cells, Bone, Bone Marrow

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Publications for Immunodeficiency 18

Articles related to Immunodeficiency 18:

#	Title	Authors	Year
1	Thymoma and immunodeficiency: (18)F-FDG-PET/CT imaging of Good syndrome. ( 23687646 )	Kelly A....Guettrot-Imbert G.	2013

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Genes for Immunodeficiency 18

Genes related to Immunodeficiency 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD3E	CD3e Molecule	Protein Coding	1034.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	8490660 1370449 1676369
2	CD3D	CD3d Molecule	Protein Coding	16.92	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CD3G	CD3g Molecule	Protein Coding	16.32	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	TAL1	TAL BHLH Transcription Factor 1, Erythroid Differentiation Factor	Protein Coding	15.55	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	LMO1	LIM Domain Only 1	Protein Coding	14.76	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	PTPRC	Protein Tyrosine Phosphatase, Receptor Type C	Protein Coding	13.93	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	PTCRA	Pre T Cell Antigen Receptor Alpha	Protein Coding	13.21	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Immunodeficiency 18

ClinVar genetic disease variations for Immunodeficiency 18:

⁶

(show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CD3E	NM_000733.3(CD3E): c.520+2T> C	single nucleotide variant	Pathogenic	rs483352928	GRCh37	Chromosome 11, 118184591: 118184591
2	CD3E	NM_000733.3(CD3E): c.520+2T> C	single nucleotide variant	Pathogenic	rs483352928	GRCh38	Chromosome 11, 118313876: 118313876
3	CD3E	NM_000733.3(CD3E): c.176G> A (p.Trp59Ter)	single nucleotide variant	Pathogenic	rs121918659	GRCh37	Chromosome 11, 118183405: 118183405
4	CD3E	NM_000733.3(CD3E): c.176G> A (p.Trp59Ter)	single nucleotide variant	Pathogenic	rs121918659	GRCh38	Chromosome 11, 118312690: 118312690
5	CD3E	NM_000733.3(CD3E): c.128_129delCC (p.Thr43Asnfs)	deletion	Pathogenic	rs483352929	GRCh37	Chromosome 11, 118183357: 118183358
6	CD3E	NM_000733.3(CD3E): c.128_129delCC (p.Thr43Asnfs)	deletion	Pathogenic	rs483352929	GRCh38	Chromosome 11, 118312642: 118312643
7	CD3E	NM_000733.3(CD3E): c.103C> T (p.Pro35Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143949187	GRCh38	Chromosome 11, 118312170: 118312170
8	CD3E	NM_000733.3(CD3E): c.103C> T (p.Pro35Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143949187	GRCh37	Chromosome 11, 118182885: 118182885
9	CD3E	NM_000733.3(CD3E): c.211G> C (p.Asp71His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148647954	GRCh37	Chromosome 11, 118183440: 118183440
10	CD3E	NM_000733.3(CD3E): c.211G> C (p.Asp71His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148647954	GRCh38	Chromosome 11, 118312725: 118312725
11	CD3E	NM_000733.3(CD3E): c.54C> T (p.Gly18=)	single nucleotide variant	Benign	rs1126924	GRCh38	Chromosome 11, 118307292: 118307292
12	CD3E	NM_000733.3(CD3E): c.54C> T (p.Gly18=)	single nucleotide variant	Benign	rs1126924	GRCh37	Chromosome 11, 118178007: 118178007
13	CD3E	NM_000733.3(CD3E): c.323C> T (p.Ala108Val)	single nucleotide variant	Benign	rs35299792	GRCh37	Chromosome 11, 118183552: 118183552
14	CD3E	NM_000733.3(CD3E): c.323C> T (p.Ala108Val)	single nucleotide variant	Benign	rs35299792	GRCh38	Chromosome 11, 118312837: 118312837
15	CD3E	NM_000733.3(CD3E): c.49+3G> A	single nucleotide variant	Uncertain significance	rs202200315	GRCh38	Chromosome 11, 118305004: 118305004
16	CD3E	NM_000733.3(CD3E): c.49+3G> A	single nucleotide variant	Uncertain significance	rs202200315	GRCh37	Chromosome 11, 118175719: 118175719
17	CD3E	NM_000733.3(CD3E): c.353-5C> A	single nucleotide variant	Uncertain significance	rs374456909	GRCh37	Chromosome 11, 118184417: 118184417
18	CD3E	NM_000733.3(CD3E): c.353-5C> A	single nucleotide variant	Uncertain significance	rs374456909	GRCh38	Chromosome 11, 118313702: 118313702

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Expression for Immunodeficiency 18

Search GEO for disease gene expression data for Immunodeficiency 18.

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Pathways for Immunodeficiency 18

Pathways related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

(show all 38)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	13.16	CD3D CD3E CD3G PTPRC
2	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴ TCR Signaling ⁶⁴	12.7	CD3D CD3E CD3G PTPRC
3	Actin Nucleation by ARP-WASP Complex ⁶⁴ Show member pathways Actin Nucleation and Branching ⁶⁴ CDC42 Pathway ⁶⁴ RhoA Pathway ⁶⁴	12.68	CD3D CD3E CD3G
4	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.66	CD3D CD3E CD3G PTPRC
5	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.6	CD3D CD3E CD3G
6	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.53	CD3D CD3E CD3G
7	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.37	CD3D CD3E CD3G
8	NF-kappaB Signaling ⁴	12.34	CD3E PTPRC TAL1
9	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.31	CD3D CD3E CD3G
10	Antigen processing-Cross presentation ⁶⁶ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁶ Endosomal/Vacuolar pathway ⁶⁶ ER-Phagosome pathway ⁶⁶ Immune response Antigen presentation by MHC class I ²²	12.27	CD3D CD3E CD3G
11	Th17 cell differentiation ³⁷ Show member pathways Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.23	CD3D CD3E CD3G
12	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.22	CD3D CD3E CD3G PTPRC
13	HTLV-I infection ³⁷	12.21	CD3D CD3E CD3G
14	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.18	CD3D CD3E CD3G PTPRC
15	TCR signaling (REACTOME) ⁶⁶ Show member pathways TCR signaling ⁶⁶	12.11	CD3D CD3E CD3G PTPRC
16	B Cell Receptor Signaling Pathway (sino) ⁶⁷ Show member pathways B Cell Receptor Signaling Pathway ⁶⁷	12.06	CD3D CD3E CD3G PTPRC
17	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ VEGFR2 mediated vascular permeability ⁶⁶	12.02	CD3D CD3E CD3G
18	Immune response Antigen presentation by MHC class II ²² Show member pathways G-protein signaling N-RAS regulation pathway ²² IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²²	11.99	CD3D CD3E CD3G
19	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.94	CD3D CD3E CD3G
20	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.89	CD3D CD3E CD3G
21	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.8	CD3D CD3E CD3G
22	S-1P Stimulated Signaling ⁶⁴	11.75	CD3D CD3E CD3G
23	Hematopoietic cell lineage ³⁷	11.72	CD3D CD3E CD3G
24	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.59	CD3D CD3E CD3G
25	CTLA4 Signaling ⁶⁴	11.56	CD3D CD3E CD3G
26	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.53	CD3E PTPRC
27	NF-kB (NFkB) Pathway ⁶⁷	11.52	CD3E CD3G
28	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.49	CD3D CD3E CD3G
29	Translocation of ZAP-70 to Immunological synapse ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶ Phosphorylation of CD3 and TCR zeta chains ⁶⁶	11.49	CD3D CD3E CD3G PTPRC
30	G-protein signaling_Regulation of RAC1 activity ²²	11.45	CD3D CD3E CD3G
31	B Cell Development Pathways ⁶⁵	11.38	CD3E PTPRC
32	G-protein signaling_Rap1A regulation pathway ²²	11.35	CD3D CD3E CD3G
33	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.29	CD3D CD3E CD3G PTPRC
34	Primary immunodeficiency ³⁷	11.15	CD3D CD3E PTPRC
35	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.12	CD3D CD3E CD3G
36	Nur77 Signaling in T-Cell ⁶⁴	11.09	CD3D CD3E CD3G
37	IL12 signaling mediated by STAT4 ¹	10.94	CD3D CD3E CD3G
38	CXCR4-mediated signaling events ¹	10.81	CD3D CD3E CD3G PTPRC

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GO Terms for Immunodeficiency 18

Cellular components related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	clathrin-coated vesicle membrane	GO:0030665	9.16	CD3D CD3G
2	T cell receptor complex	GO:0042101	9.13	CD3D CD3E CD3G
3	alpha-beta T cell receptor complex	GO:0042105	8.8	CD3D CD3E CD3G

Biological processes related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	immune system process	GO:0002376	9.67	CD3D CD3E CD3G
2	adaptive immune response	GO:0002250	9.54	CD3D CD3E CD3G
3	regulation of immune response	GO:0050776	9.5	CD3D CD3E CD3G
4	regulation of hematopoietic stem cell differentiation	GO:1902036	9.48	LMO1 TAL1
5	positive regulation of T cell proliferation	GO:0042102	9.46	CD3E PTPRC
6	T cell activation	GO:0042110	9.43	CD3E CD3G
7	protein homooligomerization	GO:0051260	9.43	CD3D CD3E CD3G
8	T cell differentiation	GO:0030217	9.4	CD3D PTPRC
9	T cell costimulation	GO:0031295	9.33	CD3D CD3E CD3G
10	cell surface receptor signaling pathway	GO:0007166	9.26	CD3D CD3E CD3G PTPRC
11	T cell receptor signaling pathway	GO:0050852	8.92	CD3D CD3E CD3G PTPRC

Molecular functions related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane signaling receptor activity	GO:0004888	9.43	CD3D CD3E CD3G
2	protein heterodimerization activity	GO:0046982	9.26	CD3D CD3E CD3G TAL1
3	receptor signaling complex scaffold activity	GO:0030159	9.16	CD3E CD3G
4	T cell receptor binding	GO:0042608	8.62	CD3E CD3G

Sources

Sources for Immunodeficiency 18

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia