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MCID: IMM167
MIFTS: 63

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
Primary Immunodeficiency Disease 12 37 15
Immunologic Deficiency Syndromes 44 73
Primary Immune Deficiency Disorder 73
Immune Deficiency Disorder 12
Immunodeficiency Syndrome 12
Primary Immunodeficiency 6
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
SNOMED-CT 68 64431000
MedGen 42 C1855771
KEGG 37 H01725
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 primary immunodeficiency disease, is related to acquired immunodeficiency syndrome and immunodeficiency with hyper-igm, type 3, and has symptoms including pathological conditions, signs and symptoms An important gene associated with Immune Deficiency Disease is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are ERK Signaling and Innate Immune System. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are cellular immunodeficiency and recurrent bacterial infections

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 757)
# Related Disease Score Top Affiliating Genes
1 acquired immunodeficiency syndrome 33.9 IL10 IL2 IL2RA
2 immunodeficiency with hyper-igm, type 3 32.5 CD40 CD40LG RAG1
3 combined t cell and b cell immunodeficiency 32.2 IL2 IL2RG RAG1 RAG2
4 graft-versus-host disease 32.1 IL10 IL1A IL2
5 agammaglobulinemia 31.8 BTK CD19 CD79A
6 b-cell expansion with nfkb and t-cell anergy 31.6 IL2 IL2RA IL2RB
7 immunoglobulin a deficiency 1 31.6 BTK CD40LG CD79A
8 immunodeficiency with hyper-igm, type 1 31.5 BTK CD40 CD40LG CD79A IL4
9 atypical mycobacteriosis, familial 31.4 CYBB IFNGR1
10 immune system disease 31.1 BTK CD19 CD40 CD40LG IL10 IL2
11 viral infectious disease 30.7 CD40LG IL10 IL2 IL4 TLR9
12 cryptosporidiosis 30.5 CD40LG CD79A IL1A
13 toxoplasmosis 30.4 CD40 CD40LG CD79A IL10 IL4 TLR9
14 meningoencephalitis 30.3 CD40LG CD79A TLR9
15 colitis 30.3 IL10 IL2 IL4 TLR9
16 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.2 BTK CD40LG IL10 IL2 IL2RA IL4
17 aspergillosis 30.2 IL10 IL4 TLR9
18 paracoccidioidomycosis 30.2 IL10 IL2 IL4
19 human immunodeficiency virus infectious disease 30.2 IL10 IL2 TLR9
20 coccidioidomycosis 30.2 IFNGR1 IL10 RAG2
21 uveitis 30.1 IL10 IL1A IL2RA IL4
22 cutaneous leishmaniasis 30.1 IL10 IL4 TLR9
23 rubella 30.1 CD40LG IL10 IL4
24 sporotrichosis 30.1 CD40LG CD79A IL10
25 scabies 30.1 IL10 IL1A
26 visceral leishmaniasis 30.1 IL10 IL2 IL4 TLR9
27 burkitt lymphoma 30.1 CD40 CD40LG IL4 SH2D1A TLR9
28 ocular toxoplasmosis 30.1 CD40LG CD79A TLR9
29 leishmaniasis 30.1 IFNGR1 IL10 IL1A IL2 IL4 TLR9
30 lymphadenitis 30.0 IFNGR1 IL10 IL12RB1
31 mycobacterium fortuitum 29.9 IFNGR1 IL12RB1
32 bronchiolitis 29.8 IL10 IL4 TLR9
33 trypanosomiasis 29.8 IL10 IL2 IL4 TLR9
34 transient hypogammaglobulinemia 29.8 CD19 IL10
35 myocarditis 29.8 CD40 CD40LG IL12RB1
36 osteomyelitis 29.8 IFNGR1 IL10 IL1A
37 lymphopenia 29.8 IL2 IL2RA IL2RG RAG1
38 chlamydia 29.8 CD79A IL10 IL1A IL4
39 milk allergy 29.8 CD79A IL10 IL4
40 immunoglobulin g deficiency 29.8 CD40LG CD79A
41 common variable immunodeficiency 29.7 BTK CD19 CD40 CD40LG CD79A IL10
42 keratoconjunctivitis 29.7 IL2 IL4 TLR9
43 autoimmune disease 29.7 CD40 CD40LG CD79A IL10 IL2 IL2RA
44 myeloma, multiple 29.7 CD19 CD40 IL2 TLR9
45 congenital toxoplasmosis 29.7 CD40LG CD79A TLR9
46 hemophagocytic lymphohistiocytosis 29.7 IL10 IL2RA IL2RB SH2D1A
47 acute graft versus host disease 29.7 IL10 IL2 IL2RA IL4
48 genital herpes 29.7 IL10 IL4 TLR9
49 cutaneous t cell lymphoma 29.7 IL2 IL2RA IL4
50 selective igg deficiency disease 29.7 CD19 CD79A

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

About this section

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

G I:
intrahepatic sclerosing cholangitis
fulminant hepatitis


Clinical features from OMIM:

242850

Human phenotypes related to Immune Deficiency Disease:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cellular immunodeficiency 32 HP:0005374
2 recurrent bacterial infections 32 HP:0002718
3 recurrent viral infections 32 HP:0004429
4 igm deficiency 32 HP:0002850
5 cholangitis 32 HP:0030151
6 fulminant hepatitis 32 HP:0004787
7 humoral immunodeficiency 32 HP:0005363

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 9.4 CD40LG IL10 IL1A IL2 IL2RA
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 BTK CD40 CD40LG IL10 IL1A IL2

MGI Mouse Phenotypes related to Immune Deficiency Disease:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.43 BTK CD19 CD40 CD40LG CD79A CYBB
2 homeostasis/metabolism MP:0005376 10.39 BTK CD19 CD40 CD40LG CD79A CYBB
3 immune system MP:0005387 10.38 BTK CD19 CD40 CD40LG CD79A CYBB
4 cellular MP:0005384 10.32 BTK CD19 CD40LG CD79A CYBB IFNGR1
5 digestive/alimentary MP:0005381 10.27 BTK CD19 CYBB IFNGR1 IL10 IL2
6 endocrine/exocrine gland MP:0005379 10.22 CD40 CD40LG IFNGR1 IL10 IL2 IL2RA
7 mortality/aging MP:0010768 10.1 BTK CD19 CD40LG CYBB IFNGR1 IL10
8 integument MP:0010771 10.07 BTK CD19 CD40LG IFNGR1 IL10 IL1A
9 liver/biliary system MP:0005370 9.97 CD19 CD79A IFNGR1 IL10 IL2 IL2RB
10 neoplasm MP:0002006 9.9 BTK CD19 CD79A CYBB IFNGR1 IL10
11 renal/urinary system MP:0005367 9.61 CD19 CD40 CD40LG CD79A CYBB IFNGR1
12 respiratory system MP:0005388 9.17 IL10 IL2 IL2RA IL2RG IL4 RAG1
Sources

Drugs & Therapeutics for Immune Deficiency Disease

About this section

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

(show all 34)
# 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 Immunoglobulins, Intravenous Phase 4,Phase 3
4 gamma-Globulins Phase 4,Phase 3
5 Immunologic Factors Phase 4,Phase 3,Phase 1,Phase 2
6 Rho(D) Immune Globulin Phase 4,Phase 3
7
Vidarabine Approved, Investigational Phase 1, Phase 2 24356-66-9 32326 21704
8
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
9
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
10 Antiviral Agents Phase 1, Phase 2,Phase 2
11 Antimetabolites, Antineoplastic Phase 1, Phase 2
12 Alkylating Agents Phase 1, Phase 2
13 Immunosuppressive Agents Phase 1, Phase 2
14 Antineoplastic Agents, Alkylating Phase 1, Phase 2
15 Antimetabolites Phase 1, Phase 2
16 Antilymphocyte Serum Phase 1, Phase 2
17 Anti-Infective Agents Phase 1, Phase 2,Phase 2
18 Anti-Bacterial Agents Phase 1, Phase 2
19
Zidovudine Approved Phase 1 30516-87-1 35370
20
Adenosine Approved, Investigational Phase 1 58-61-7 60961
21 Analgesics Phase 1
22 Peripheral Nervous System Agents Phase 1,Not Applicable
23 Anti-Arrhythmia Agents Phase 1,Not Applicable
24 Neurotransmitter Agents Phase 1
25 Vasodilator Agents Phase 1
26
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
27 Vaccines Not Applicable
28 Anesthetics Not Applicable
29 Anesthetics, Local Not Applicable
30 Diuretics, Potassium Sparing Not Applicable
31 Central Nervous System Depressants Not Applicable
32 Sodium Channel Blockers Not Applicable
33 Yellow Dock
34 Autoantibodies

Interventional clinical trials:

(show all 19)
# 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 Antiviral Cellular Therapy for Enhancing T-cell Reconstitution Before or After Hematopoietic Stem Cell Transplantation Recruiting NCT03475212 Phase 1, Phase 2
8 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 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 Targeted Literature Review and Subject Interviews in Wiskott-Aldrich Syndrome (WAS) Completed NCT03399461
14 Idiopathic CD4 Lymphocytopenia Completed NCT02113930
15 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
16 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
17 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
18 Patients Treated for Wiskott-Aldrich Syndrome (WAS) Since 1990 Active, not recruiting NCT02064933
19 Mechanisms of Immune Deficiency Not yet recruiting NCT03707782

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

About this section

Genetic tests related to Immune Deficiency Disease:

# Genetic test Affiliating Genes
1 Immune Deficiency Disease 29
Sources

Anatomical Context for Immune Deficiency Disease

About this section

MalaCards organs/tissues related to Immune Deficiency Disease:

41
Bone, Bone Marrow, T Cells, B Cells, Lung, Skin, Thyroid
Sources

Publications for Immune Deficiency Disease

About this section

Articles related to Immune Deficiency Disease:

(show top 50) (show all 106)
# Title Authors Year
1
Cytomegalovirus Retinitis in Primary Immune Deficiency Disease. ( 30327738 )
2018
2
Mannose-Binding Lectin Protein Deficiency Among Patients with Primary Immunodeficiency Disease Receiving IVIG Therapy. ( 29119939 )
2018
3
Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease; a case-series. ( 29996795 )
2018
4
Exercise Perception and Behaviors in Individuals Living with Primary Immunodeficiency Disease. ( 29307028 )
2018
5
Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. ( 29185156 )
2017
6
Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group. ( 28708268 )
2017
7
Inflammatory Duodenal Polyposis Associated with Primary Immunodeficiency Disease: A Novel Case Report. ( 28163721 )
2017
8
Supplement: Frontiers in Immunoglobulin Therapy of Primary Immunodeficiency Disease. ( 28236085 )
2017
9
RI-002, an intravenous immunoglobulin containing high titer neutralizing antibody to RSV and other respiratory viruses for use in primary immunodeficiency disease and other immune compromised populations. ( 29035131 )
2017
10
Is there clinical value in counting nucleated red blood cells and platelet indices in primary immunodeficiency disease? ( 30035397 )
2017
11
Efficacy, Safety, and Pharmacokinetics of a New 10A % Liquid Intravenous Immunoglobulin Containing High Titer Neutralizing Antibody to RSV and Other Respiratory Viruses in Subjects with Primary Immunodeficiency Disease. ( 27324887 )
2016
12
Primary immunodeficiency disease and hematology. ( 27795540 )
2016
13
How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease? ( 26815708 )
2016
14
Health-Related Quality of Life and Health Resource Utilization in Patients with Primary Immunodeficiency Disease Prior to and Following 12A Months of Immunoglobulin G Treatment. ( 27091140 )
2016
15
Evaluating dose ratio of subcutaneous to intravenous immunoglobulin therapy among patients with primary immunodeficiency disease switching to 20% subcutaneous immunoglobulin therapy. ( 27849353 )
2016
16
Selecting a polyclonal immune globulin treatment for a patient with primary immune deficiency disease: Role of the clinical pharmacist. ( 27045066 )
2016
17
Pharmacokinetics, Safety, and Tolerability of Subcutaneous Immune Globulin Injection (Human), 10 % Caprylate/Chromatography Purified (GAMUNEX®-C) in Pediatric Patients with Primary Immunodeficiency Disease. ( 27342758 )
2016
18
Health-related quality of life in patients with primary immunodeficiency disease. ( 26421019 )
2015
19
An open, prospective trial investigating the pharmacokinetics and safety, and the tolerability of escalating infusion rates of a 10% human normal immunoglobulin for intravenous infusion (IVIg), BT090, in patients with primary immunodeficiency disease. ( 25953213 )
2015
20
Validity of Primary Immunodeficiency Disease Diagnoses in United States Medicaid Data. ( 26271389 )
2015
21
Emerging Paradigm of Primary Immunodeficiency Disease: Individualizing Immunoglobulin Dose and Delivery to Enhance Outcomes. ( 24477950 )
2014
22
Economic impact of infections among patients with primary immunodeficiency disease receiving IVIG therapy. ( 24959089 )
2014
23
Current treatment options with immunoglobulin G for the individualisation of care in patients with primary immunodeficiency disease. ( 25384609 )
2014
24
Modeling Primary Immunodeficiency Disease Epidemiology and Its Treatment to Estimate Latent Therapeutic Demand for Immunoglobulin. ( 24338563 )
2013
25
Calculating the dose of subcutaneous immunoglobulin for primary immunodeficiency disease in patients switched from intravenous to subcutaneous immunoglobulin without the use of a dose-adjustment coefficient. ( 24391400 )
2013
26
Evaluation of primary immunodeficiency disease in children. ( 23939499 )
2013
27
Supplement: Frontiers in Immunoglobulin Therapy of Primary Immunodeficiency Disease. ( 23797892 )
2013
28
Using intravenous immunoglobulin (IVIG) to treat patients with primary immune deficiency disease. ( 23271459 )
2013
29
Long-term efficacy, safety, and tolerability of HizentraAr for treatment of primary immunodeficiency disease. ( 24412910 )
2013
30
Illustrative cases on individualizing immunoglobulin therapy in primary immunodeficiency disease. ( 24267400 )
2013
31
Tolerance and autoimmunity in primary immunodeficiency disease: a comprehensive review. ( 23296947 )
2013
32
Optimizing immunoglobulin treatment for patients with primary immunodeficiency disease to prevent pneumonia and infection incidence: review of the current data. ( 24267401 )
2013
33
Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. ( 22927353 )
2012
34
Subcutaneous immunoglobulins: product characteristics and their role in primary immunodeficiency disease. ( 23215767 )
2012
35
Stem cell transplantation for primary immunodeficiency disease: experience of a singapore hospital. ( 23268471 )
2012
36
Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. ( 22361515 )
2012
37
Efficacy, safety, and pharmacokinetics of a 10% liquid immune globulin preparation (GAMMAGARD LIQUID, 10%) administered subcutaneously in subjects with primary immunodeficiency disease. ( 21424824 )
2011
38
PIDO: the primary immunodeficiency disease ontology. ( 21949270 )
2011
39
Diagnosis and treatment of primary immunodeficiency disease: the role of the otolaryngologist. ( 20724030 )
2011
40
Diagnosis and treatment of primary immunodeficiency disease in patients with gastrointestinal symptoms. ( 21489888 )
2011
41
Primary immunodeficiency disease: a model for case management of chronic diseases. ( 20032632 )
2010
42
Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease. ( 20169031 )
2010
43
Primary immune deficiency disease awareness among a group of Turkish physicians. ( 21043382 )
2010
44
Pharmacokinetics and safety of subcutaneous immune globulin (human), 10% caprylate/chromatography purified in patients with primary immunodeficiency disease. ( 20550549 )
2010
45
Transplant outcomes for primary immunodeficiency disease. ( 20109615 )
2010
46
Prediction of candidate primary immunodeficiency disease genes using a support vector machine learning approach. ( 19801557 )
2009
47
Clinical experience with Flebogamma 5% DIF: a new generation of intravenous immunoglobulins in patients with primary immunodeficiency disease. ( 19630866 )
2009
48
WHIM syndrome: congenital immune deficiency disease. ( 19057201 )
2009
49
Hematopoietic stem cell transplantation for primary immunodeficiency disease. ( 17968328 )
2008
50
Current world literature. Primary immune deficiency disease. ( 18978476 )
2008
Sources

Variations for Immune Deficiency Disease

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ClinVar genetic disease variations for Immune Deficiency Disease:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAG2 NM_000536.3(RAG2): c.1433G> A (p.Cys478Tyr) single nucleotide variant Uncertain significance rs121918573 GRCh37 Chromosome 11, 36614286: 36614286
2 RAG2 NM_000536.3(RAG2): c.1433G> A (p.Cys478Tyr) single nucleotide variant Uncertain significance rs121918573 GRCh38 Chromosome 11, 36592736: 36592736
3 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Uncertain significance rs121917894 GRCh37 Chromosome 11, 36615033: 36615033
4 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Uncertain significance rs121917894 GRCh38 Chromosome 11, 36593483: 36593483
5 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Likely pathogenic rs121917895 GRCh37 Chromosome 11, 36615596: 36615596
6 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Likely pathogenic rs121917895 GRCh38 Chromosome 11, 36594046: 36594046
7 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Likely pathogenic rs121917896 GRCh37 Chromosome 11, 36614865: 36614865
8 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Likely pathogenic rs121917896 GRCh38 Chromosome 11, 36593315: 36593315
9 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh37 Chromosome 11, 36615075: 36615075
10 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh38 Chromosome 11, 36593525: 36593525
11 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Likely pathogenic rs121917897 GRCh37 Chromosome 11, 36615604: 36615604
12 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Likely pathogenic rs121917897 GRCh38 Chromosome 11, 36594054: 36594054
13 RAG2 NM_000536.3(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Likely pathogenic rs121918574 GRCh37 Chromosome 11, 36615489: 36615489
14 RAG2 NM_000536.3(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Likely pathogenic rs121918574 GRCh38 Chromosome 11, 36593939: 36593939
15 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs121918575 GRCh37 Chromosome 11, 36614367: 36614367
16 RAG2 NM_000536.3(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs121918575 GRCh38 Chromosome 11, 36592817: 36592817
17 RAG2 NM_000536.3(RAG2): c.104G> C (p.Gly35Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148508754 GRCh37 Chromosome 11, 36615615: 36615615
18 RAG2 NM_000536.3(RAG2): c.104G> C (p.Gly35Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148508754 GRCh38 Chromosome 11, 36594065: 36594065
19 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922572 GRCh37 Chromosome 11, 36614472: 36614472
20 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922572 GRCh38 Chromosome 11, 36592922: 36592922
21 RAG2 NM_000536.3(RAG2): c.1309G> A (p.Glu437Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922573 GRCh37 Chromosome 11, 36614410: 36614410
22 RAG2 NM_000536.3(RAG2): c.1309G> A (p.Glu437Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922573 GRCh38 Chromosome 11, 36592860: 36592860
23 RAG2 NM_000536.3(RAG2): c.328A> C (p.Met110Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922575 GRCh37 Chromosome 11, 36615391: 36615391
24 RAG2 NM_000536.3(RAG2): c.328A> C (p.Met110Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922575 GRCh38 Chromosome 11, 36593841: 36593841
25 RAG2 NM_000536.3(RAG2): c.1158C> A (p.Phe386Leu) single nucleotide variant Benign/Likely benign rs34629171 GRCh38 Chromosome 11, 36593011: 36593011
26 RAG2 NM_000536.3(RAG2): c.1158C> A (p.Phe386Leu) single nucleotide variant Benign/Likely benign rs34629171 GRCh37 Chromosome 11, 36614561: 36614561
27 RAG2 NM_000536.3(RAG2): c.539C> A (p.Pro180His) single nucleotide variant Pathogenic/Likely pathogenic rs1064793251 GRCh37 Chromosome 11, 36615180: 36615180
28 RAG2 NM_000536.3(RAG2): c.539C> A (p.Pro180His) single nucleotide variant Pathogenic/Likely pathogenic rs1064793251 GRCh38 Chromosome 11, 36593630: 36593630
29 RAG2 NM_000536.3(RAG2): c.479C> T (p.Ser160Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs756694972 GRCh37 Chromosome 11, 36615240: 36615240
30 RAG2 NM_000536.3(RAG2): c.479C> T (p.Ser160Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs756694972 GRCh38 Chromosome 11, 36593690: 36593690
31 RAG2 NM_000536.3(RAG2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs909264507 GRCh37 Chromosome 11, 36615526: 36615526
32 RAG2 NM_000536.3(RAG2): c.193G> T (p.Asp65Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs909264507 GRCh38 Chromosome 11, 36593976: 36593976
33 RAG2 NM_000536.3(RAG2): c.1504A> G (p.Met502Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145614809 GRCh37 Chromosome 11, 36614215: 36614215
34 RAG2 NM_000536.3(RAG2): c.1504A> G (p.Met502Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145614809 GRCh38 Chromosome 11, 36592665: 36592665
35 RAG2 NM_000536.3(RAG2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 11, 36615717: 36615717
36 RAG2 NM_000536.3(RAG2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 11, 36594167: 36594167
37 RAG2 NM_000536.3(RAG2): c.1442A> C (p.His481Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36614277: 36614277
38 RAG2 NM_000536.3(RAG2): c.1442A> C (p.His481Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36592727: 36592727
39 RAG2 NM_000536.3(RAG2): c.1421A> G (p.Asn474Ser) single nucleotide variant Likely benign rs757913323 GRCh37 Chromosome 11, 36614298: 36614298
40 RAG2 NM_000536.3(RAG2): c.1421A> G (p.Asn474Ser) single nucleotide variant Likely benign rs757913323 GRCh38 Chromosome 11, 36592748: 36592748
41 RAG2 NM_000536.3(RAG2): c.1375A> C (p.Met459Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614344: 36614344
42 RAG2 NM_000536.3(RAG2): c.1375A> C (p.Met459Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592794: 36592794
43 RAG2 NM_000536.3(RAG2): c.1366G> A (p.Ala456Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592803: 36592803
44 RAG2 NM_000536.3(RAG2): c.1366G> A (p.Ala456Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614353: 36614353
45 RAG2 NM_000536.3(RAG2): c.1357T> A (p.Trp453Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614362: 36614362
46 RAG2 NM_000536.3(RAG2): c.1357T> A (p.Trp453Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592812: 36592812
47 RAG2 NM_000536.3(RAG2): c.1338C> G (p.Cys446Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 36592831: 36592831
48 RAG2 NM_000536.3(RAG2): c.1338C> G (p.Cys446Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 36614381: 36614381
49 RAG2 NM_000536.3(RAG2): c.1332C> G (p.Ile444Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 36592837: 36592837
50 RAG2 NM_000536.3(RAG2): c.1332C> G (p.Ile444Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 36614387: 36614387

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 64)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.91 BTK CD40 CD40LG IL10 IL12RB1 IL1A
2
Innate Immune System 66
Show member pathways
 13.83 BTK CD19 CD40 CD40LG CD79A CYBB
3
PEDF Induced Signaling 64
Show member pathways
 13.74 BTK CD40 CD40LG IFNGR1 IL10 IL12RB1
4
TGF-Beta Pathway 64
Show member pathways
 13.6 BTK IFNGR1 IL10 IL12RB1 IL1A IL2
5
Akt Signaling 64
Show member pathways
 13.48 BTK CD40 CD40LG IL10 IL12RB1 IL1A
6
PAK Pathway 64
Show member pathways
 13.35 BTK CD40 CD40LG CYBB IL10 IL12RB1
7
Cytokine Signaling in Immune system 66
Show member pathways
 13.29 CD40 CD40LG IFNGR1 IL10 IL12RB1 IL1A
8
IL-2 Pathway 64
Show member pathways
 13.24 BTK CD19 CD40 CD79A IFNGR1 IL1A
9
Toll-like Receptor Signaling Pathway 37 1
Show member pathways
 13.07 BTK CD40 CYBB IFNGR1 IL10 IL2
10
PI3K-Akt signaling pathway 37
Show member pathways
 13.04 CD19 IL2 IL2RA IL2RB IL2RG IL4
11
Allograft rejection 1 37
Show member pathways
 12.98 CD40 CD40LG IFNGR1 IL10 IL12RB1 IL1A
12
Pathways in cancer 37
12.91 IFNGR1 IL12RB1 IL2 IL2RA IL2RB IL2RG
13
Influenza A 37
Show member pathways
 12.89 IFNGR1 IL1A IL2 IL2RA IL2RB IL2RG
14
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.8 IL2 IL2RA IL2RB IL2RG IL4
15
NF-KappaB Family Pathway 64
Show member pathways
 12.74 CD40 CD40LG IL1A IL2 TLR9
16
TRAF Pathway 64
Show member pathways
 12.65 BTK CD40 CD40LG IL1A TLR9
17
Th17 cell differentiation 37
Show member pathways
 12.62 IFNGR1 IL10 IL12RB1 IL1A IL2 IL2RA
18
Immune response NFAT in immune response 22
Show member pathways
 12.58 BTK CD40 CD40LG CD79A IFNGR1 IL10
19
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.51 IFNGR1 IL2 IL4 SH2D1A
20
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.5 IFNGR1 IL10 IL12RB1 IL2 IL2RA IL2RB
21
T cell receptor signaling pathway 37
Show member pathways
 12.49 CD40LG IL10 IL1A IL2 IL4
22
Human T-cell leukemia virus 1 infection 37
12.49 CD40 IL2 IL2RA IL2RB IL2RG
23
ICos-ICosL Pathway in T-Helper Cell 64
Show member pathways
 12.49 CD40 CD40LG IL2 IL2RA IL2RB IL2RG
24
Endocytosis 37
12.42 GRK3 IL2RA IL2RB IL2RG
25
Toxoplasmosis 37
Show member pathways
 12.38 CD40 CD40LG CYBB IFNGR1 IL10 IL1A
26
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.32 IL10 IL1A IL2 IL2RA IL4
27
Tuberculosis 37
12.27 IFNGR1 IL10 IL1A TLR9
28
C-type lectin receptor signaling pathway 37
Show member pathways
 12.25 BTK IL10 IL2 TLR9
29
NF-kappaB Signaling 4
12.25 BTK CD19 CD40LG CD79A IL10 IL2
30
G beta-gamma signalling through PI3Kgamma 66
Show member pathways
 12.2 IL2 IL2RA IL2RB IL2RG
31
Th1 Differentiation Pathway 65
Show member pathways
 12.19 IFNGR1 IL10 IL12RB1 IL2 IL2RG TLR9
32
IL-2 Signaling Pathway 1
Show member pathways
 12.16 BTK IL2 IL2RA IL2RB IL2RG
33
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.16 BTK IFNGR1 IL10 IL1A IL2 IL2RA
34
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 66
12.14 CD19 CD40 CD40LG SH2D1A
35
IL12-mediated signaling events 1
Show member pathways
 12.11 IL12RB1 IL2 IL2RA IL2RB IL2RG IL4
36
MAPK Pathway 72
Show member pathways
 12.09 IL1A IL2 IL2RA TLR9
37
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
12.07 CD19 CD79A IL10 IL2 IL2RA IL2RB
38
Interleukin-4 and 13 signaling 66
12.05 IL10 IL1A IL2RG IL4
39
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 12.03 IL2 IL2RA IL2RB IL2RG
40
Jak-Stat Signaling Pathway (sino) 67
12.01 IFNGR1 IL10 IL12RB1 IL2 IL2RA IL2RB
41
Hematopoietic cell lineage 37
11.97 CD19 IL1A IL2RA IL4
42
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 66
Show member pathways
 11.94 BTK CD19 CD79A
43
Innate Lymphoid Cell Differentiation Pathways 65
11.9 IL10 IL12RB1 IL2 IL2RA IL2RB IL4
44
NF-kappa B signaling pathway 37
11.88 BTK CD40 CD40LG
45
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.85 CD40LG IL2 IL2RA IL4
46
Dendritic Cells Developmental Lineage Pathway 65
11.84 CD19 IL10 IL2 TLR9
47
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.83 IL2 IL2RA IL2RB IL2RG IL4
48
Microglia Activation During Neuroinflammation: Microglia Polarization 65
11.81 CD40 IL10 IL2 IL4
49
IL4-mediated signaling events 1
11.76 CD40LG IL10 IL2RG IL4
50
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.74 IL2 IL2RA IL2RB IL2RG
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 plasma membrane GO:0005886 9.77 BTK CD19 CD40 CD40LG CD79A CYBB
2 integral component of plasma membrane GO:0005887 9.7 CD19 CD40 CD40LG CYBB IFNGR1 IL2RB
3 external side of plasma membrane GO:0009897 9.23 CD19 CD40 CD40LG CD79A IL12RB1 IL2RA

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.99 CD40 CD40LG CYBB IL10 IL1A TLR9
2 adaptive immune response GO:0002250 9.96 BTK CD79A IL2 RAG1 SH2D1A
3 MAPK cascade GO:0000165 9.94 IL2 IL2RA IL2RB IL2RG
4 regulation of immune response GO:0050776 9.92 CD19 CD40 CD40LG IL4 SH2D1A
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.9 BTK CD40 CD40LG TLR9
6 negative regulation of inflammatory response GO:0050728 9.83 IL10 IL2 IL2RA
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.81 CD40 IL2 IL4
8 immune response GO:0006955 9.81 CD40LG IL10 IL1A IL2 IL2RA IL2RG
9 positive regulation of T cell proliferation GO:0042102 9.78 CD40LG IL2 IL2RA IL4
10 positive regulation of B cell proliferation GO:0030890 9.73 CD40 IL2 IL4 TLR9
11 positive regulation of activated T cell proliferation GO:0042104 9.72 IL12RB1 IL2 IL2RA
12 positive regulation of interleukin-12 production GO:0032735 9.71 CD40 CD40LG TLR9
13 B cell proliferation GO:0042100 9.71 CD40 CD40LG CD79A IL10
14 negative regulation of B cell proliferation GO:0030889 9.67 BTK IL10
15 B cell activation GO:0042113 9.67 BTK CD40 CD79A IL4
16 regulation of regulatory T cell differentiation GO:0045589 9.66 IL2 IL2RA
17 interleukin-15-mediated signaling pathway GO:0035723 9.65 IL2RB IL2RG
18 response to molecule of bacterial origin GO:0002237 9.65 IL10 TLR9
19 V(D)J recombination GO:0033151 9.64 RAG1 RAG2
20 positive regulation of isotype switching to IgG isotypes GO:0048304 9.63 CD40 IL2 IL4
21 negative regulation of interleukin-8 production GO:0032717 9.62 IL10 TLR9
22 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IL10 IL4
23 positive regulation of T cell differentiation GO:0045582 9.62 IL2 IL2RA IL4 RAG1
24 negative regulation of lymphocyte proliferation GO:0050672 9.61 IL2 IL2RA
25 regulation of immunoglobulin secretion GO:0051023 9.61 CD40 CD40LG
26 regulation of isotype switching GO:0045191 9.59 IL10 IL4
27 type 2 immune response GO:0042092 9.58 IL10 IL4
28 pre-B cell allelic exclusion GO:0002331 9.58 RAG1 RAG2
29 regulation of T cell homeostatic proliferation GO:0046013 9.57 IL2 IL2RA
30 interleukin-2-mediated signaling pathway GO:0038110 9.56 IL2 IL2RA IL2RB IL2RG
31 B cell differentiation GO:0030183 9.43 CD40LG CD79A IL10 IL4 RAG1 RAG2
32 cytokine-mediated signaling pathway GO:0019221 9.28 IFNGR1 IL10 IL12RB1 IL1A IL2 IL2RA
33 negative regulation of apoptotic process GO:0043066 10.05 CD40LG IL10 IL2 IL2RB IL4
34 immune system process GO:0002376 10.04 BTK CD40 CD79A IL2 IL2RA SH2D1A
35 regulation of signaling receptor activity GO:0010469 10.03 CD40LG IL10 IL1A IL2 IL4

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.56 IL2 IL2RA IL2RB IL2RG
2 cytokine activity GO:0005125 9.55 CD40LG IL10 IL1A IL2 IL4
3 cytokine binding GO:0019955 9.54 IFNGR1 IL12RB1 IL2RG
4 cytokine receptor activity GO:0004896 9.5 IL12RB1 IL2RB IL2RG
5 interleukin-1 receptor binding GO:0005149 9.4 IL1A TLR9
6 interleukin-2 binding GO:0019976 9.13 IL2RA IL2RB IL2RG
7 interleukin-2 receptor activity GO:0004911 8.8 IL2RA IL2RB IL2RG
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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