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MCID: IMM167
MIFTS: 59

Immune Deficiency Disease

Categories: Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Immune Deficiency Disease

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MalaCards integrated aliases for Immune Deficiency Disease:

Name: Immune Deficiency Disease 57 29 73
Immunodeficiency 29 55 6 40
Primary Immunodeficiency Disease 12 15
Immunologic Deficiency Syndromes 44 73
Primary Immune Deficiency Disorder 73
Primary Immunodeficiency Diseases 37
Immune Deficiency Disorder 12
Immunodeficiency Syndrome 12
Immune System Diseases 73
Immune Disorder 55
Hypoimmunity 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
immune deficiency disease:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Anatomical: Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 242850
Disease Ontology 12 DOID:612
ICD10 33 D84.9
ICD9CM 35 279.3
MeSH 44 D007153
NCIt 50 C3131 C39725
MedGen 42 C1855771
KEGG 37 H01725
SNOMED-CT via HPO 69 258211005 428875002 427044009
Sources

Summaries for Immune Deficiency Disease

About this section
Disease Ontology : 12 An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.

MalaCards based summary : Immune Deficiency Disease, also known as immunodeficiency, is related to severe combined immunodeficiency, x-linked and acquired immunodeficiency syndrome, and has symptoms including pathological conditions, signs and symptoms An important gene associated with Immune Deficiency Disease is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and bone, and related phenotypes are recurrent bacterial infections and igm deficiency

Wikipedia : 76 Immunodeficiency (or immune deficiency) is a state in which the immune system\'s ability to fight... more...

Description from OMIM: 242850
Sources

Related Diseases for Immune Deficiency Disease

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Diseases related to Immune Deficiency Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 247)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 35.0 ADA IL2 IL4
2 acquired immunodeficiency syndrome 33.8 CCR5 CD40LG CD79A IFNG IL10 IL2
3 agammaglobulinemia 32.6 BTK CD40LG CD79A SH2D1A
4 lymphoproliferative syndrome 32.3 IL2 IL2RA SH2D1A
5 immunodeficiency with hyper-igm, type 1 32.2 BTK CD40 CD40LG CD79A IL4
6 immune system disease 32.0 CD40LG CD79A IFNG IL10 IL2 IL4
7 hematopoietic stem cell transplantation 31.3 IFNG IL10 IL2
8 combined immunodeficiency, x-linked 31.0 ADA CD40 CD40LG CD79A IL2 IL2RA
9 chronic mucocutaneous candidiasis 30.6 IFNG IL10 IL2RA
10 candidiasis 30.5 CD79A IFNG IL10
11 hemophagocytic lymphohistiocytosis 30.5 IFNG IL10 IL2RA SH2D1A
12 common variable immunodeficiency 30.1 BTK CD40 CD40LG CD79A IFNG IL10
13 lymphoma, non-hodgkin, familial 29.3 ATM CD40 CD40LG CD79A CXCR4 IL2
14 neutrophil immunodeficiency syndrome 12.2
15 gastrointestinal defects and immunodeficiency syndrome 12.0
16 hydrops fetalis anemia immune disorder absent thumb 11.9
17 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 11.6
18 selective igg deficiency disease 11.2 CD40LG CD79A
19 c1q nephropathy 11.2 CD40LG CD79A
20 meningovascular neurosyphilis 11.2 CD40LG CD79A
21 alpha chain disease 11.2 CD40LG CD79A
22 brill-zinsser disease 11.2 CD40LG CD79A
23 exudative glomerulonephritis 11.2 CD40LG CD79A
24 cork-handlers' disease 11.2 CD40LG CD79A
25 salpingo-oophoritis 11.2 CD40LG CD79A
26 tropical endomyocardial fibrosis 11.2 IL10 IL4
27 light fixation seizure syndrome 11.2 CD40 CD40LG
28 early yaws 11.2 CD40LG CD79A
29 ventilation pneumonitis 11.2 CD40LG CD79A
30 chronic interstitial cystitis 11.2 CD40LG CD79A
31 ross river fever 11.2 CD40LG IL10
32 axillary adenitis 11.1 CD40LG CD79A
33 cryofibrinogenemia 11.1 CD40LG CD79A
34 selective immunoglobulin deficiency disease 11.1 CD40LG CD79A SH2D1A
35 parasitic ichthyosporea infectious disease 11.1 CD40LG CD79A IL4
36 rhinosporidiosis 11.1 CD40LG CD79A IL4
37 gastroduodenitis 11.1 CD40LG CD79A RAG2
38 mycoplasmal pneumonia 11.1 IFNG IL4
39 dysgammaglobulinemia 11.1 CD40LG CD79A SH2D1A
40 commensal bacterial infectious disease 11.1 CD40LG CD79A IL2
41 trichostrongyloidiasis 11.1 CD40LG CD79A
42 exanthem 11.1 CD40LG CD79A IL2
43 conjunctival disease 11.1 CD40LG CD79A IL4
44 subacute bacterial endocarditis 11.1 CD40LG CD79A
45 heterophyiasis 11.1 CD40LG CD79A
46 granulomatous hepatitis 11.1 CD40LG CD79A IL4
47 milk allergy 11.1 CD79A IL10 IL4
48 immunoglobulin g deficiency 11.1 CD40LG CD79A
49 hyperimmunoglobulin syndrome 11.1 CD40 CD40LG CD79A
50 cervicitis 11.1 CD79A IL2 IL2RA

Comorbidity relations with Immune Deficiency Disease via Phenotypic Disease Network (PDN):


Acute Cystitis Bronchitis
Deficiency Anemia Heart Disease
Neutropenia Rheumatoid Arthritis

Graphical network of the top 20 diseases related to Immune Deficiency Disease:



Diseases related to Immune Deficiency Disease
Sources

Symptoms & Phenotypes for Immune Deficiency Disease

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Symptoms via clinical synopsis from OMIM:

57
Immunology:
partial humoral immunodeficiency
partial cellular immunodeficiency
severe igm deficiency
primary immunization antibody response defective

Misc:
susceptibility to both bacterial and viral infections
septicemia common

GI:
intrahepatic sclerosing cholangitis
fulminant hepatitis


Clinical features from OMIM:

242850

Human phenotypes related to Immune Deficiency Disease:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent bacterial infections 32 HP:0002718
2 igm deficiency 32 HP:0002850
3 recurrent viral infections 32 HP:0004429
4 fulminant hepatitis 32 HP:0004787
5 humoral immunodeficiency 32 HP:0005363
6 cellular immunodeficiency 32 HP:0005374

UMLS symptoms related to Immune Deficiency Disease:


pathological conditions, signs and symptoms

GenomeRNAi Phenotypes related to Immune Deficiency Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.47 CXCR4 IL10 IL2 IL2RA ATM CD40LG
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.47 CD40LG CXCR4 IL10 IL2 IL2RA ATM

MGI Mouse Phenotypes related to Immune Deficiency Disease:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.46 WAS SH2D1A TNFRSF13B ATM CD40 CD40LG
2 homeostasis/metabolism MP:0005376 10.45 WAS RAG2 SH2D1A TNFRSF13B CCR5 ATM
3 immune system MP:0005387 10.43 WAS RAG2 SH2D1A TNFRSF13B CCR5 ATM
4 cellular MP:0005384 10.42 WAS RAG2 ADA CCR5 ATM CD40LG
5 endocrine/exocrine gland MP:0005379 10.34 WAS RAG2 ADA ATM CD40 CD40LG
6 digestive/alimentary MP:0005381 10.31 WAS RAG2 CCR5 BTK ADA IFNG
7 cardiovascular system MP:0005385 10.26 RAG2 ADA CCR5 ATM CXCR4 CD40LG
8 mortality/aging MP:0010768 10.25 RAG2 TNFRSF13B ADA CCR5 ATM BTK
9 neoplasm MP:0002006 10.18 WAS RAG2 TNFRSF13B CCR5 ATM BTK
10 liver/biliary system MP:0005370 10.17 RAG2 TNFRSF13B CCR5 ADA IFNG CD79A
11 integument MP:0010771 10.11 RAG2 ATM BTK CXCR4 CD40LG IFNG
12 nervous system MP:0003631 10.06 RAG2 CCR5 CD40 ATM CXCR4 CD40LG
13 renal/urinary system MP:0005367 9.96 WAS TNFRSF13B ADA CD40 CD40LG IFNGR1
14 reproductive system MP:0005389 9.9 RAG2 ADA CCR5 ATM IFNGR1 CD40LG
15 respiratory system MP:0005388 9.56 RAG2 ADA CXCR4 IFNG IL2 IL2RA
16 skeleton MP:0005390 9.32 WAS RAG2 ADA CD40 CXCR4 CD40LG
Sources

Drugs & Therapeutics for Immune Deficiency Disease

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Drugs for Immune Deficiency Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3,Not Applicable
2 Immunoglobulins Phase 4,Phase 3,Not Applicable
3 gamma-Globulins Phase 4,Phase 3
4 Immunoglobulins, Intravenous Phase 4,Phase 3
5 Rho(D) Immune Globulin Phase 4,Phase 3
6
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
7
Fludarabine Approved Phase 1, Phase 2,Phase 2 21679-14-1, 75607-67-9 30751
8
Vidarabine Approved, Investigational Phase 1, Phase 2 24356-66-9 32326 21704
9 Alkylating Agents Phase 1, Phase 2
10 Anti-Infective Agents Phase 1, Phase 2,Phase 2
11 Antilymphocyte Serum Phase 1, Phase 2
12 Antimetabolites Phase 1, Phase 2
13 Antimetabolites, Antineoplastic Phase 1, Phase 2
14 Antineoplastic Agents, Alkylating Phase 1, Phase 2
15 Antiviral Agents Phase 1, Phase 2
16 Immunosuppressive Agents Phase 1, Phase 2
17 Anti-Bacterial Agents Phase 1, Phase 2
18
Adenosine Approved, Investigational Phase 1 58-61-7 60961
19
Zidovudine Approved Phase 1 30516-87-1 35370
20 Analgesics Phase 1
21 Anti-Arrhythmia Agents Phase 1,Not Applicable
22 Neurotransmitter Agents Phase 1
23 Peripheral Nervous System Agents Phase 1,Not Applicable
24 Vasodilator Agents Phase 1
25
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
26 Vaccines Not Applicable
27 Anesthetics Not Applicable
28 Anesthetics, Local Not Applicable
29 Central Nervous System Depressants Not Applicable
30 Diuretics, Potassium Sparing Not Applicable
31 Sodium Channel Blockers Not Applicable
32 Autoantibodies
33 Yellow Dock Nutraceutical

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Flebogamma 5% DIF IGIV in Pediatric Subjects Completed NCT00634569 Phase 4
2 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
3 HIV/STD Safer Sex Skills Groups for Men in Drug Treatment Programs - 1 Completed NCT00084175 Phase 3
4 Study of PlasmaCap IG in Adults and Children With PIDD Recruiting NCT03238079 Phase 3
5 IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency Completed NCT00228852 Phase 1, Phase 2 Busulfan, Fludarabine and ATG
6 Memory T-cell Infusion to Improve Immunity After TCR-alpha/Beta Depleted Hematopoietic Stem Cell Transplantation Completed NCT02337595 Phase 1, Phase 2
7 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
8 Antiviral Cellular Therapy for Enhancing T-cell Reconstitution Before or After Hematopoietic Stem Cell Transplantation Not yet recruiting NCT03475212 Phase 1, Phase 2
9 Energy Specific Far Infrared Radiation Treatment for Hyperparathyroidism Unknown status NCT00573573 Phase 1
10 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency Completed NCT00018018 Phase 1 CD34+ cells transduced with ADA retrovir
11 Evaluate Bacteriophage as a Useful Immunogen in Patients With Primary Immune Deficiency Diseases (PIDD) Unknown status NCT01617122 Not Applicable
12 Construction of a Health-related Quality of Life (HR-QOL) Questionnaire for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
13 Idiopathic CD4 Lymphocytopenia Completed NCT02113930
14 Targeted Literature Review and Subject Interviews in Wiskott-Aldrich Syndrome (WAS) Recruiting NCT03399461
15 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
16 Patients Treated for Wiskott-Aldrich Syndrome (WAS) Since 1990 Recruiting NCT02064933
17 Pilot Study of a New Device (Buzzy®) for Procedural Pain Relief During Needle-Related Procedures in Paediatric Patients Recruiting NCT02771600 Not Applicable Topical anaesthetic cream
18 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560

Search NIH Clinical Center for Immune Deficiency Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: immunologic deficiency syndromes

Sources

Genetic Tests for Immune Deficiency Disease

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Genetic tests related to Immune Deficiency Disease:

# Genetic test Affiliating Genes
1 Immune Deficiency Disease 29
2 Immunodeficiency 29
Sources

Anatomical Context for Immune Deficiency Disease

About this section

MalaCards organs/tissues related to Immune Deficiency Disease:

41
T Cells, Bone Marrow, Bone, Lung, Liver
Sources

Publications for Immune Deficiency Disease

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Articles related to Immune Deficiency Disease:

(show all 22)
# Title Authors Year
1
Selecting a polyclonal immune globulin treatment for a patient with primary immune deficiency disease: Role of the clinical pharmacist. ( 27045066 )
2016
2
Using intravenous immunoglobulin (IVIG) to treat patients with primary immune deficiency disease. ( 23271459 )
2013
3
Characteristics of children with non-hodgkin lymphoma associated with primary immune deficiency diseases: descriptions of five patients. ( 23647505 )
2013
4
Primary immune deficiency disease awareness among a group of Turkish physicians. ( 21043382 )
2010
5
WHIM syndrome: congenital immune deficiency disease. ( 19057201 )
2009
6
Current world literature. Primary immune deficiency disease. ( 18978476 )
2008
7
Bibliography. Current world literature. Primary immune deficiency disease. ( 18210669 )
2007
8
Bibliography. Current world literature. Primary immune deficiency disease. ( 17088658 )
2006
9
Bibliography. Current world literature. Primary immune deficiency disease. ( 16264340 )
2005
10
Bibliography. Current world literature. Primary immune deficiency disease. ( 15640702 )
2004
11
Bibliography. Current world literature. Primary immune deficiency disease. ( 15051974 )
2003
12
Bibliography. Current world literature. Primary immune deficiency disease. ( 14756149 )
2002
13
Bibliography. Current world literature. Primary immune deficiency disease. ( 11968192 )
2001
14
How HIV-1 lentivirus causes immune deficiency disease. ( 10342673 )
1999
15
Evidence that specific cellular immunity cannot account for death of Mus caroli embryos transferred to Mus musculus with severe combined immune deficiency disease. ( 2968010 )
1988
16
The liver in acquired immune deficiency disease. ( 3317858 )
1987
17
Characterization of B lymphocyte lineage progenitor cells from mice with severe combined immune deficiency disease (SCID) made possible by long term culture. ( 3104473 )
1987
18
Pathogens in children with severe combined immune deficiency disease or AIDS. ( 3719484 )
1986
19
Leporine acquired immune deficiency disease. ( 3018882 )
1986
20
Long-term immunological reconstitution by peripheral blood leucocytes in severe combined immune deficiency disease: implications for the role of mature lymphocytes in histocompatible bone marrow transplantation. ( 3539420 )
1986
21
Acquired immune deficiency disease after three years. The unsolved riddle. ( 6330451 )
1984
22
Pneumocystis carinii pneumonia and primary immune deficiency diseases. ( 1087961 )
1976
Sources

Variations for Immune Deficiency Disease

About this section

ClinVar genetic disease variations for Immune Deficiency Disease:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539
2 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh38 Chromosome 11, 108244812: 108244812
3 NFAT5 NM_138714.3(NFAT5): c.1797G> A (p.Leu599=) single nucleotide variant Benign rs144343499 GRCh38 Chromosome 16, 69691904: 69691904
4 NFAT5 NM_138714.3(NFAT5): c.1797G> A (p.Leu599=) single nucleotide variant Benign rs144343499 GRCh37 Chromosome 16, 69725807: 69725807
5 NFAT5 NM_138714.3(NFAT5): c.3470A> G (p.Gln1157Arg) single nucleotide variant Benign rs145602190 GRCh38 Chromosome 16, 69693577: 69693577
6 NFAT5 NM_138714.3(NFAT5): c.3470A> G (p.Gln1157Arg) single nucleotide variant Benign rs145602190 GRCh37 Chromosome 16, 69727480: 69727480
7 NFAT5 NM_138714.3(NFAT5): c.2409_2411delACA (p.Gln812del) deletion Likely benign GRCh38 Chromosome 16, 69692516: 69692518
8 NFAT5 NM_138714.3(NFAT5): c.2409_2411delACA (p.Gln812del) deletion Likely benign GRCh37 Chromosome 16, 69726419: 69726421
9 NFAT5 NM_138714.3(NFAT5): c.3964C> T (p.Leu1322Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 69694071: 69694071
10 NFAT5 NM_138714.3(NFAT5): c.3964C> T (p.Leu1322Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 69727974: 69727974
11 NFAT5 NM_138714.3(NFAT5): c.148A> G (p.Ser50Gly) single nucleotide variant Likely benign rs148886916 GRCh37 Chromosome 16, 69681107: 69681107
12 NFAT5 NM_138714.3(NFAT5): c.148A> G (p.Ser50Gly) single nucleotide variant Likely benign rs148886916 GRCh38 Chromosome 16, 69647204: 69647204
13 NFAT5 NM_138714.3(NFAT5): c.3069T> C (p.Ile1023=) single nucleotide variant Benign rs61730073 GRCh37 Chromosome 16, 69727079: 69727079
14 NFAT5 NM_138714.3(NFAT5): c.3069T> C (p.Ile1023=) single nucleotide variant Benign rs61730073 GRCh38 Chromosome 16, 69693176: 69693176
15 NFAT5 NM_138714.3(NFAT5): c.3567_3569delACA (p.Gln1190del) deletion Likely benign GRCh37 Chromosome 16, 69727577: 69727579
16 NFAT5 NM_138714.3(NFAT5): c.3567_3569delACA (p.Gln1190del) deletion Likely benign GRCh38 Chromosome 16, 69693674: 69693676
17 NFAT5 NM_138714.3(NFAT5): c.2244G> A (p.Glu748=) single nucleotide variant Benign rs61730074 GRCh38 Chromosome 16, 69692351: 69692351
18 NFAT5 NM_138714.3(NFAT5): c.2244G> A (p.Glu748=) single nucleotide variant Benign rs61730074 GRCh37 Chromosome 16, 69726254: 69726254
19 RAG2 NM_001243786.1(RAG2): c.1321C> A (p.Pro441Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614398: 36614398
20 RAG2 NM_001243786.1(RAG2): c.1321C> A (p.Pro441Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592848: 36592848
21 NFAT5 NM_138714.3(NFAT5): c.222C> T (p.Asp74=) single nucleotide variant Likely benign rs779989621 GRCh37 Chromosome 16, 69681181: 69681181
22 NFAT5 NM_138714.3(NFAT5): c.222C> T (p.Asp74=) single nucleotide variant Likely benign rs779989621 GRCh38 Chromosome 16, 69647278: 69647278
23 NFAT5 NM_138714.3(NFAT5): c.1687T> G (p.Ser563Ala) single nucleotide variant Benign rs56368098 GRCh37 Chromosome 16, 69725697: 69725697
24 NFAT5 NM_138714.3(NFAT5): c.1687T> G (p.Ser563Ala) single nucleotide variant Benign rs56368098 GRCh38 Chromosome 16, 69691794: 69691794
25 NFAT5 NM_138714.3(NFAT5): c.1839T> C (p.Phe613=) single nucleotide variant Benign rs140247329 GRCh37 Chromosome 16, 69725849: 69725849
26 NFAT5 NM_138714.3(NFAT5): c.1839T> C (p.Phe613=) single nucleotide variant Benign rs140247329 GRCh38 Chromosome 16, 69691946: 69691946
27 NFAT5 NM_138714.3(NFAT5): c.3348G> C (p.Gln1116His) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 69693455: 69693455
28 NFAT5 NM_138714.3(NFAT5): c.3348G> C (p.Gln1116His) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 69727358: 69727358
29 NFAT5 NM_138714.3(NFAT5): c.2940A> C (p.Gln980His) single nucleotide variant Uncertain significance rs754574529 GRCh38 Chromosome 16, 69693047: 69693047
30 NFAT5 NM_138714.3(NFAT5): c.2940A> C (p.Gln980His) single nucleotide variant Uncertain significance rs754574529 GRCh37 Chromosome 16, 69726950: 69726950
31 NFAT5 NM_138714.3(NFAT5): c.3000T> C (p.Asn1000=) single nucleotide variant Likely benign rs370482742 GRCh38 Chromosome 16, 69693107: 69693107
32 NFAT5 NM_138714.3(NFAT5): c.3000T> C (p.Asn1000=) single nucleotide variant Likely benign rs370482742 GRCh37 Chromosome 16, 69727010: 69727010
33 NFAT5 NM_138714.3(NFAT5): c.3724A> G (p.Met1242Val) single nucleotide variant Uncertain significance rs150642075 GRCh37 Chromosome 16, 69727734: 69727734
34 NFAT5 NM_138714.3(NFAT5): c.3724A> G (p.Met1242Val) single nucleotide variant Uncertain significance rs150642075 GRCh38 Chromosome 16, 69693831: 69693831
35 NFAT5 NM_138714.3(NFAT5): c.106G> A (p.Val36Met) single nucleotide variant Benign rs200933617 GRCh38 Chromosome 16, 69647162: 69647162
36 NFAT5 NM_138714.3(NFAT5): c.106G> A (p.Val36Met) single nucleotide variant Benign rs200933617 GRCh37 Chromosome 16, 69681065: 69681065
37 NFAT5 NM_138714.3(NFAT5): c.1495A> G (p.Met499Val) single nucleotide variant Uncertain significance rs182069051 GRCh38 Chromosome 16, 69690942: 69690942
38 NFAT5 NM_138714.3(NFAT5): c.1495A> G (p.Met499Val) single nucleotide variant Uncertain significance rs182069051 GRCh37 Chromosome 16, 69724845: 69724845
39 NFAT5 NM_138714.3(NFAT5): c.1557A> G (p.Pro519=) single nucleotide variant Benign rs140085549 GRCh37 Chromosome 16, 69724907: 69724907
40 NFAT5 NM_138714.3(NFAT5): c.1557A> G (p.Pro519=) single nucleotide variant Benign rs140085549 GRCh38 Chromosome 16, 69691004: 69691004
41 NFAT5 NM_138714.3(NFAT5): c.2829T> A (p.Pro943=) single nucleotide variant Likely benign rs754416047 GRCh38 Chromosome 16, 69692936: 69692936
42 NFAT5 NM_138714.3(NFAT5): c.2829T> A (p.Pro943=) single nucleotide variant Likely benign rs754416047 GRCh37 Chromosome 16, 69726839: 69726839
43 NFAT5 NM_138714.3(NFAT5): c.3537A> G (p.Gln1179=) single nucleotide variant Likely benign rs958258553 GRCh38 Chromosome 16, 69693644: 69693644
44 NFAT5 NM_138714.3(NFAT5): c.3537A> G (p.Gln1179=) single nucleotide variant Likely benign rs958258553 GRCh37 Chromosome 16, 69727547: 69727547
45 NFAT5 NM_138714.3(NFAT5): c.2873A> G (p.Gln958Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 69726883: 69726883
46 NFAT5 NM_138714.3(NFAT5): c.2873A> G (p.Gln958Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 69692980: 69692980
47 NFAT5 NM_138714.3(NFAT5): c.3534G> A (p.Gln1178=) single nucleotide variant Likely benign rs777901572 GRCh38 Chromosome 16, 69693641: 69693641
48 NFAT5 NM_138714.3(NFAT5): c.3534G> A (p.Gln1178=) single nucleotide variant Likely benign rs777901572 GRCh37 Chromosome 16, 69727544: 69727544

Copy number variations for Immune Deficiency Disease from CNVD:

7 (show all 19)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13971 1 102000000 107000000 Microdeletion Immune disease
2 13972 1 102000000 107000000 Microdeletion Immune disease
3 21626 1 159859611 159867782 Copy number FCGR3B Immune disease
4 85226 14 41000000 43200000 Microdeletion Immune disease
5 85227 14 41000000 43200000 Microdeletion Immune disease
6 107138 17 1225928 31649843 Copy number CCL3L1 Immune disease
7 139885 2 189100000 191600000 Microdeletion Immune disease
8 139886 2 189100000 191600000 Microdeletion Immune disease
9 160793 22 16300000 24300000 Deletion Primary immunodeficiency
10 168392 3 129680959 129694718 Deletion GATA2 Primary immunodeficiency
11 211042 6 3197570 32111174 Copy number C4 Immune disease
12 211162 6 32100000 33500000 Both Immune disease
13 242386 8 7200000 45200000 Copy number FGFR1 Immune disease
14 242533 8 7259842 7791647 Copy number DEFB4 Immune disease
15 243228 8 80300000 84900000 Microdeletion Immune disease
16 243229 8 80300000 84900000 Microdeletion Immune disease
17 250206 9 204864 455254 Deletion DOCK8 Primary immunodeficiency
18 264118 X 6000000 9500000 Microdeletion Immune disease
19 265703 X 8611093 8611616 Microdeletion KAL1 Immune disease
Sources

Expression for Immune Deficiency Disease

About this section
Search GEO for disease gene expression data for Immune Deficiency Disease.
Sources

Pathways for Immune Deficiency Disease

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Pathways related to Immune Deficiency Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 14.05 BTK CCR5 CD40 CD40LG CD79A IFNG
2
ERK Signaling 64
Show member pathways
 13.87 ATM BTK CCR5 CD40 CD40LG CXCR4
3
PEDF Induced Signaling 64
Show member pathways
 13.72 BTK CCR5 CD40 CD40LG CXCR4 IFNG
4
TGF-Beta Pathway 64
Show member pathways
 13.51 BTK CXCR4 IFNG IFNGR1 IL10 IL2
5
Akt Signaling 64
Show member pathways
 13.41 BTK CCR5 CD40 CD40LG CXCR4 IL10
6
Cytokine Signaling in Immune system 66
Show member pathways
 13.35 CCR5 CD40 CD40LG IFNG IFNGR1 IL10
7
PAK Pathway 64
Show member pathways
 13.21 BTK CCR5 CD40 CD40LG CXCR4 IL10
8
Toll-like Receptor Signaling Pathway 37 1
Show member pathways
 13.01 BTK CD40 IFNG IFNGR1 IL10 IL2
9
Development Angiotensin activation of ERK 22
Show member pathways
 12.94 BTK CD40 CD40LG CD79A CXCR4 TNFRSF13B
10
Pathways in cancer 37
12.86 CXCR4 IFNG IFNGR1 IL2 IL2RA IL4
11
IL-2 Pathway 64
Show member pathways
 12.83 BTK CD40 CD79A IFNG IFNGR1 IL2
12
Influenza A 37
Show member pathways
 12.82 IFNG IFNGR1 IL2 IL2RA IL4 SH2D1A
13
Allograft rejection 1 37
Show member pathways
 12.74 CD40 CD40LG CXCR4 IFNG IFNGR1 IL10
14
4-1BB Pathway 64
Show member pathways
 12.71 CCR5 CD40 CD40LG CXCR4 IFNG IFNGR1
15
Regulation of IFNA signaling 66
Show member pathways
 12.7 IFNG IFNGR1 IL10 IL2 IL2RA IL4
16
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.58 IFNG IFNGR1 IL2 IL4 SH2D1A WAS
17
Th17 cell differentiation 37
Show member pathways
 12.51 IFNG IFNGR1 IL10 IL2 IL2RA IL4
18
T cell receptor signaling pathway 37
Show member pathways
 12.46 CCR5 CD40LG IFNG IL10 IL2 IL4
19
HTLV-I infection 37
12.42 ATM CD40 IL2 IL2RA
20
ICos-ICosL Pathway in T-Helper Cell 64
Show member pathways
 12.42 CD40 CD40LG IL2 IL2RA WAS
21
Endocytosis 37
12.4 CCR5 CXCR4 IL2RA WAS
22
Th1 Differentiation Pathway 65
Show member pathways
 12.25 IFNG IFNGR1 IL10 IL2
23
Tuberculosis 37
12.23 IFNG IFNGR1 IL10 RFXAP
24
Toxoplasmosis 37
Show member pathways
 12.18 CCR5 CD40 CD40LG IFNG IFNGR1 IL10
25
NF-kappaB Signaling 4
12.17 BTK CD40LG CD79A CXCR4 IFNG IL10
26
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.15 BTK IFNG IFNGR1 IL10 IL2 IL2RA
27
IL-2 Signaling Pathway 1
Show member pathways
 12.09 BTK IFNG IL2 IL2RA
28
IL12-mediated signaling events 1
Show member pathways
 12.06 CCR5 IFNG IL2 IL2RA IL4
29
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
12 CD79A IFNG IL10 IL2 IL2RA IL4
30
NF-kappa B signaling pathway 37
11.92 ATM BTK CD40 CD40LG
31
Innate Lymphoid Cell Differentiation Pathways 65
11.86 IFNG IL10 IL2 IL2RA IL4
32
Salmonella infection (KEGG) 37
11.82 IFNG IFNGR1 WAS
33
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.82 CD40LG IFNG IL2 IL2RA IL4
34
Jak-Stat Signaling Pathway 67
11.81 CCR5 CXCR4 IFNG IFNGR1 IL10 IL2
35
Glucocorticoid receptor regulatory network 1
11.79 IFNG IL2 IL4
36
Dendritic Cells Developmental Lineage Pathway 65
11.75 IFNG IL10 IL2
37
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.74 CD40 CD40LG TNFRSF13B
38
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.7 IL2 IL2RA IL4
39
Regulation of Telomerase 1
11.69 ATM IFNG IL2
40
IL4-mediated signaling events 1
11.67 CD40LG IL10 IL4
41
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.66 CD40LG IFNG IL2
42
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.65 IFNG IL2 IL2RA
43
Malaria 37
11.61 CD40 CD40LG IFNG IL10
44
B Cell Development Pathways 65
11.6 CD40 CD40LG CXCR4 IL10 TNFRSF13B
45
Interleukin-10 signaling 66
11.54 CCR5 IL10 IL4
46
Th2 Differentiation Pathway 65
11.49 IFNG IL10 IL2 IL2RA IL4
47
Cytokines and Inflammatory Response 1
11.36 IFNG IL10 IL2 IL4
48
CD40/CD40L signaling 1
11.31 CD40 CD40LG IL4
49
OX40 Pathway 64
11.28 IFNG IL10 IL2 IL4
50
IL12 signaling mediated by STAT4 1
11.27 IFNG IL2 IL2RA
Sources

GO Terms for Immune Deficiency Disease

About this section

Cellular components related to Immune Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.43 ADA CCR5 CD40 CD40LG CXCR4 IL2RA
2 external side of plasma membrane GO:0009897 9.1 ADA CCR5 CD40 CD40LG CD79A IL2RA

Biological processes related to Immune Deficiency Disease according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.97 CCR5 CD79A IFNG IL2RA TNFRSF13B
2 cytokine-mediated signaling pathway GO:0019221 9.97 CCR5 IFNGR1 IL10 IL2 IL2RA IL4
3 regulation of immune response GO:0050776 9.95 CD40 CD40LG IL4 SH2D1A
4 adaptive immune response GO:0002250 9.93 BTK CD79A IFNG IL2 SH2D1A TNFRSF13B
5 immune system process GO:0002376 9.92 ATM BTK CD40 CD79A IL2 IL2RA
6 negative regulation of inflammatory response GO:0050728 9.86 ADA IL10 IL2 IL2RA
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.82 CD40 IFNG IL2
8 positive regulation of T cell proliferation GO:0042102 9.81 CD40LG IL2 IL2RA IL4
9 calcium-mediated signaling GO:0019722 9.8 BTK CCR5 CXCR4
10 T cell activation GO:0042110 9.79 ADA IL4 WAS
11 positive regulation of B cell proliferation GO:0030890 9.73 ADA CD40 IL2 IL4
12 positive regulation of interleukin-12 production GO:0032735 9.72 CD40 CD40LG IFNG
13 B cell proliferation GO:0042100 9.71 CD40 CD40LG CD79A IL10
14 regulation of regulatory T cell differentiation GO:0045589 9.7 IFNG IL2 IL2RA
15 B cell activation GO:0042113 9.67 BTK CD40 CD79A IL4
16 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.66 IFNG IFNGR1
17 V(D)J recombination GO:0033151 9.66 ATM RAG2
18 interleukin-2-mediated signaling pathway GO:0038110 9.65 IL2 IL2RA
19 positive regulation of isotype switching to IgG isotypes GO:0048304 9.65 CD40 IL2 IL4
20 B cell differentiation GO:0030183 9.65 CD40LG CD79A IL10 IL4 RAG2
21 positive regulation of MHC class II biosynthetic process GO:0045348 9.64 IL10 IL4
22 fusion of virus membrane with host plasma membrane GO:0019064 9.63 CCR5 CXCR4
23 negative regulation of lymphocyte proliferation GO:0050672 9.62 IL2 IL2RA
24 type 2 immune response GO:0042092 9.62 IL10 IL4
25 regulation of immunoglobulin secretion GO:0051023 9.61 CD40 CD40LG
26 entry into host cell GO:0030260 9.6 CCR5 CXCR4
27 regulation of isotype switching GO:0045191 9.59 IL10 IL4
28 regulation of T cell homeostatic proliferation GO:0046013 9.58 IL2 IL2RA
29 pre-B cell allelic exclusion GO:0002331 9.58 ATM RAG2
30 positive regulation of T cell differentiation GO:0045582 9.46 ADA IL2 IL2RA IL4
31 immune response GO:0006955 9.28 CCR5 CD40 CD40LG IFNG IL10 IL2
32 negative regulation of B cell proliferation GO:0030889 9.26 ATM BTK IL10 TNFRSF13B
33 regulation of signaling receptor activity GO:0010469 10.04 CD40LG IFNG IL10 IL2 IL4
34 inflammatory response GO:0006954 10.01 CCR5 CD40 CD40LG CXCR4 IL10 IL2RA

Molecular functions related to Immune Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 ADA ATM BTK CCR5 CD40 CD40LG
2 cytokine activity GO:0005125 9.35 CD40LG IFNG IL10 IL2 IL4
3 C-C chemokine binding GO:0019957 9.16 CCR5 CXCR4
Sources

Sources for Immune Deficiency Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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