IGHM
MCID: AGM001
MIFTS: 64

Agammaglobulinemia (IGHM) malady

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

Aliases & Classifications for Agammaglobulinemia

Aliases & Descriptions for Agammaglobulinemia:

Name: Agammaglobulinemia 12 29 52 42 14 69
Hypogammaglobulinemia 12 52 14 69
Mu Heavy Chain Deficiency 12
Mu-Heavy Chain Disease 56
Mu-Chain Disease 69
Mu-Hcd 56
Ighm 12

Characteristics:

Orphanet epidemiological data:

56
mu-heavy chain disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:2583
ICD10 33 D80.1
ICD9CM 35 279.00
MeSH 42 D000361
NCIt 47 C26931
Orphanet 56 ORPHA100024
ICD10 via Orphanet 34 C88.2

Summaries for Agammaglobulinemia

Disease Ontology : 12 A B cell deficiency that is caused by a reduction in all types of gamma globulins.

MalaCards based summary : Agammaglobulinemia, also known as hypogammaglobulinemia, is related to agammaglobulinemia, x-linked 1 and agammaglobulinemia 1, and has symptoms including fever, splenomegaly and hepatomegaly. An important gene associated with Agammaglobulinemia is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and CREB Pathway. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone, and related phenotypes are Decreased viability and hematopoietic system

Related Diseases for Agammaglobulinemia

Diseases in the Agammaglobulinemia family:

Agammaglobulinemia 7, Autosomal Recessive Agammaglobulinemia 5
Agammaglobulinemia 4 Agammaglobulinemia 1
Agammaglobulinemia 6 Agammaglobulinemia 3
Agammaglobulinemia 2 Primary Agammaglobulinemia
Agammaglobulinemia 8, Autosomal Dominant

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

(show top 50) (show all 177)
id Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, x-linked 1 12.3
2 agammaglobulinemia 1 12.2
3 agammaglobulinemia, non-bruton type 12.1
4 agammaglobulinemia 7, autosomal recessive 12.1
5 agammaglobulinemia 5 12.1
6 agammaglobulinemia 4 12.1
7 agammaglobulinemia 6 12.1
8 agammaglobulinemia 3 12.1
9 agammaglobulinemia 2 12.1
10 agammaglobulinemia 8, autosomal dominant 12.0
11 agammaglobulinemia and isolated hormone deficiency 11.8
12 primary agammaglobulinemia 11.8
13 agammaglobulinemia, microcephaly, and severe dermatitis 11.8
14 agammaglobulinemia x-linked type 2 11.8
15 achondroplasia and swiss type agammaglobulinemia 11.7
16 isolated agammaglobulinemia 11.7
17 common variable immunodeficiency 11.2
18 immunodeficiency 15 10.9
19 severe combined immunodeficiency, x-linked 10.8
20 immunoglobulin g deficiency 10.7
21 good syndrome 10.7
22 immunodeficiency 46 10.7
23 barth syndrome 10.7
24 short-limb skeletal dysplasia with severe combined immunodeficiency 10.7
25 heavy chain disease 10.5
26 alcoholic neuropathy 10.2 CD40LG CD79A
27 camptodactyly vertebral fusion 10.2 CD40LG CD79A
28 spinal polio 10.1 CD40LG CD79A
29 rabies 10.1 CD40LG CD79A
30 unilateral retinoblastoma 10.1 CD40LG CD79A
31 mesangial proliferative glomerulonephritis 10.1 CD40LG CD79A
32 delta chain disease 10.1 CD40LG CD79A
33 discitis 10.1 CD40LG CD79A
34 spinal canal and spinal cord meningioma 10.1 CD40LG CD79A
35 trichostrongyloidiasis 10.1 CD40LG CD79A
36 arthritis 10.1
37 colloid adenoma 10.1 CD40LG CD79A
38 heart septal defect 10.1 CD40LG CD79A
39 cutaneous polyarteritis nodosa 10.1 CD40LG CD79A
40 mild pre-eclampsia 10.1 CD40LG CD79A
41 pediatric meningioma 10.1 CD40LG CD79A
42 diabetic angiopathy 10.1 BTK CD40LG CD79A
43 retinal microaneurysm 10.1 CD40LG CD79A IGLL1
44 hypoparathyroidism, x-linked 10.1 BTK CD40LG CD79A
45 tonsil cancer 10.1 CD40LG CD79A
46 indomethacin antenatal infection 10.1 CD40LG CD79A
47 postcricoid region cancer 10.1 CD40LG CD79A
48 beach ear 10.0 CD40LG CD79A
49 mental retardation, x-linked, syndromic, chudley-schwartz type 10.0 BTK IGHM ITK SRC
50 acute kidney tubular necrosis 10.0 CD40LG CD79A

Graphical network of the top 20 diseases related to Agammaglobulinemia:



Diseases related to Agammaglobulinemia

Symptoms & Phenotypes for Agammaglobulinemia

Human phenotypes related to Agammaglobulinemia:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Frequent (79-30%) HP:0001945
2 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
3 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
4 nephropathy 56 32 Occasional (29-5%) HP:0000112
5 osteoporosis 56 32 Occasional (29-5%) HP:0000939
6 anemia 56 32 Frequent (79-30%) HP:0001903
7 weight loss 56 32 Frequent (79-30%) HP:0001824
8 osteolysis 56 32 Occasional (29-5%) HP:0002797
9 lymphadenopathy 56 32 Frequent (79-30%) HP:0002716
10 increased antibody level in blood 56 32 Very frequent (99-80%) HP:0010702
11 abnormality of b cell number 56 32 Very frequent (99-80%) HP:0010975
12 bence jones proteinuria 56 32 Frequent (79-30%) HP:0030156
13 abnormality of bone marrow cell morphology 56 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Agammaglobulinemia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.77 BTK
2 Decreased viability GR00221-A-2 9.77 BTK
3 Decreased viability GR00221-A-3 9.77 BTK IBTK
4 Decreased viability GR00221-A-4 9.77 BTK ITK
5 Decreased viability GR00301-A 9.77 BTK IBTK ITK SRC
6 Decreased viability GR00342-S-1 9.77 ITK
7 Decreased viability GR00342-S-2 9.77 ITK
8 Decreased viability GR00342-S-3 9.77 ITK
9 Decreased viability in HMC1.1 cells GR00105-A-0 8.62 ITK SRC

MGI Mouse Phenotypes related to Agammaglobulinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 BLNK BTK CD19 CD40LG CD79A CD79B
2 cellular MP:0005384 10 BLNK BTK CD19 CD40LG CD79A CXCL12
3 immune system MP:0005387 9.83 SRC TCF3 BLNK BTK CD19 CD40LG
4 neoplasm MP:0002006 9.17 BLNK BTK CD19 CD79A PIK3R1 SRC

Drugs & Therapeutics for Agammaglobulinemia

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

(show top 50) (show all 81)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3,Phase 2,Early Phase 1
2 Immunoglobulins Phase 4,Phase 3,Phase 2,Early Phase 1
3 gamma-Globulins Phase 4,Phase 3,Phase 2
4 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
5 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
6 Immunoglobulin G Phase 4,Phase 3
7
Adenosine Approved, Investigational Phase 3,Phase 1,Phase 2 58-61-7 60961
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
Melphalan Approved Phase 2 148-82-3 4053 460612
11
Thiotepa Approved Phase 2 52-24-4 5453
12
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
13
Lenalidomide Approved Phase 2 191732-72-6 216326
14 Pharmaceutical Solutions Phase 2
15 Analgesics Phase 1, Phase 2
16 Anti-Arrhythmia Agents Phase 1, Phase 2
17 Neurotransmitter Agents Phase 1, Phase 2
18 Peripheral Nervous System Agents Phase 1, Phase 2
19 Vasodilator Agents Phase 1, Phase 2
20 Alkylating Agents Phase 2
21 Antimetabolites Phase 2
22 Antimetabolites, Antineoplastic Phase 2
23 Antineoplastic Agents, Alkylating Phase 2
24 Immunosuppressive Agents Phase 2
25 Anti-Infective Agents Phase 2,Phase 1,Early Phase 1
26 Antiviral Agents Phase 2,Phase 1
27 Vaccines Phase 2
28 Anti-Bacterial Agents Phase 2,Early Phase 1
29 Interferon-alpha Phase 2
30 interferons Phase 2
31 Adjuvants, Immunologic Phase 2
32 Angiogenesis Inhibitors Phase 2
33 Angiogenesis Modulating Agents Phase 2
34 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
35 Anti-HIV Agents Phase 1
36 Anti-Retroviral Agents Phase 1
37 JM 3100 Phase 1
38
Benzocaine Approved 1994-09-7, 94-09-7 2337
39
Busulfan Approved, Investigational 55-98-1 2478
40
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
41
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
42
Etoposide Approved 33419-42-0 36462
43
Methotrexate Approved 1959-05-2, 59-05-2 126941
44
Methylprednisolone Approved, Vet_approved 83-43-2 6741
45
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
46
Prednisolone Approved, Vet_approved 50-24-8 5755
47
Prednisone Approved, Vet_approved 53-03-2 5865
48 tannic acid Approved, Nutraceutical
49
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
50
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143

Interventional clinical trials:

(show all 35)
id Name Status NCT ID Phase
1 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4
2 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
3 Efficacy and Safety Study of Kedrion IVIG 10% to Treat Subjects With Primary Immunodeficiency (PID) Unknown status NCT01581593 Phase 3
4 Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00322556 Phase 3
5 Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168025 Phase 3
6 Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168012 Phase 3
7 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
8 Kinetics, Efficacy and Safety of IVIG-L in Hypogammaglobulinemia Patients Completed NCT00138697 Phase 2, Phase 3
9 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
10 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3
11 Cytomegalovirus Hyperimmune Globulin (CMV-Ig) Replacement in Hypogammaglobulinemic Lung Transplant Recipients Completed NCT00137748 Phase 2, Phase 3
12 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3
13 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
14 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
15 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Active, not recruiting NCT01884311 Phase 3
16 Intravenous Immunoglobulin (IVIG) in Lung Transplantation Unknown status NCT00115778 Phase 2
17 Safety, Pharmacokinetic and Efficacy Study of a 10% Triple Virally Reduced Intravenous Immune Globulin Solution in Patients With Primary Immunodeficiency (Hypo- or Agammaglobulinemia) Completed NCT00161993 Phase 2
18 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
19 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
20 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
21 Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled Trial Not yet recruiting NCT02661477 Phase 2
22 Lenalidomide as Immune Adjuvant in Patient's With Chronic Lymphocytic Leukemia (CLL) Terminated NCT01924169 Phase 2
23 Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector Completed NCT02022696 Phase 1
24 A Phase I Study of Mozobil in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1
25 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
26 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
27 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401
28 Post-bypass Prophylactic IVIG in Infants and Neonates Completed NCT02043379
29 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
30 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Recruiting NCT02960399
31 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
32 Investigation of Immune Disorders and Deficiencies Active, not recruiting NCT01981785
33 Personalized Immunotherapeutic for Antibiotic-resistant Infection Enrolling by invitation NCT02508584 Early Phase 1
34 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054
35 Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents Withdrawn NCT01182857

Search NIH Clinical Center for Agammaglobulinemia

Cochrane evidence based reviews: agammaglobulinemia

Genetic Tests for Agammaglobulinemia

Genetic tests related to Agammaglobulinemia:

id Genetic test Affiliating Genes
1 Agammaglobulinemia 29

Anatomical Context for Agammaglobulinemia

MalaCards organs/tissues related to Agammaglobulinemia:

39
B Cells, T Cells, Bone, Bone Marrow, Monocytes, Thymus, Skin

Publications for Agammaglobulinemia

Articles related to Agammaglobulinemia:

(show top 50) (show all 552)
id Title Authors Year
1
The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement. ( 28422989 )
2017
2
Spondylodiscitis in a Boy with X-linked Agammaglobulinemia: an Unusual Occurrence. ( 26961362 )
2016
3
Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature. ( 27722150 )
2016
4
Clinical and mutational features of X-linked agammaglobulinemia in Mexico. ( 26960951 )
2016
5
Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. ( 26873735 )
2016
6
Intracranial abscess as a complication of X-linked agammaglobulinemia. ( 27550432 )
2016
7
Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy. ( 27713031 )
2016
8
X-linked Agammaglobulinemia. ( 26909497 )
2016
9
Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation. ( 27576013 )
2016
10
Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK. ( 27091141 )
2016
11
Nucleotide variation in Sabin type 3 poliovirus from an Albanian infant with agammaglobulinemia and vaccine associated poliomyelitis. ( 27287521 )
2016
12
Bruton's agammaglobulinemia in an adult male due to a novel mutation: a case report. ( 27867589 )
2016
13
X-linked agammaglobulinemia: Twenty years of single-center experience from North West India. ( 27593100 )
2016
14
Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. ( 26883540 )
2016
15
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs(*)5), in a Korean family with X-linked agammaglobulinemia. ( 28018445 )
2016
16
Helicobacter cinaedi bacteremia resulting from antimicrobial resistance acquired during treatment for X-linked agammaglobulinemia. ( 27040158 )
2016
17
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). ( 27512878 )
2016
18
Treatment of Chronic Enterovirus Encephalitis With Fluoxetine in a Patient With X-Linked Agammaglobulinemia. ( 27640319 )
2016
19
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
20
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects. ( 26910880 )
2016
21
Splice-correction strategies for treatment of x-linked agammaglobulinemia. ( 25638286 )
2015
22
X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia. ( 25591849 )
2015
23
Are patients with X-linked agammaglobulinemia at increased risk of developing acute lymphoblastic leukemia? ( 25631529 )
2015
24
X-linked Agammaglobulinemia With Normal Immunoglobulin and Near-Normal Vaccine Seroconversion. ( 26527549 )
2015
25
High-throughput sequencing reveals an altered T cell repertoire in X-linked agammaglobulinemia. ( 26360253 )
2015
26
Nutritional Status in Agammaglobulinemia: An Italian Multicenter Study. ( 26384979 )
2015
27
A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient. ( 25680287 )
2015
28
X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis. ( 25757060 )
2015
29
X-linked agammaglobulinemia in a child conceived using a donor egg:A a medicolegal quandary. ( 25704966 )
2015
30
Evolving practice: x-linked agammaglobulinemia and lung transplantation. ( 25736826 )
2015
31
Successful hematopoietic cell transplantation in a patient with X-linked agammaglobulinemia and acute myeloid leukemia. ( 25900577 )
2015
32
PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT. ( 26603238 )
2015
33
Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia. ( 26387629 )
2015
34
Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model. ( 25105368 )
2014
35
Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia. ( 24885015 )
2014
36
Epiphora as the presenting sign of relapsed non-Hodgkin lymphoma in a child with Bruton agammaglobulinemia. ( 24832039 )
2014
37
Autoimmunity and inflammation in X-linked agammaglobulinemia. ( 24909997 )
2014
38
Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia. ( 24947966 )
2014
39
Bruton's tyrosine kinase: from X-linked agammaglobulinemia toward targeted therapy for B-cell malignancies. ( 24778403 )
2014
40
Acral lympho-histiocytic dermatitis in X-linked agammaglobulinemia: a case report showing clonal CD8(+) T cells with indolent clinical behaviour. ( 25388899 )
2014
41
Intrahepatic cholestasis in Bruton's agammaglobulinemia receiving mesalamine for co-morbid Crohn's disease. ( 24799817 )
2014
42
A case of Bruton-type agammaglobulinemia with infection problem of the hemodialysis vascular access. ( 24500850 )
2014
43
Tubulointerstitial nephritis complicating IVIG therapy for X-linked agammaglobulinemia. ( 25005715 )
2014
44
Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. ( 24985406 )
2014
45
Membranoproliferative glomerulonephritis and x-linked agammaglobulinemia: an uncommon association. ( 24716070 )
2014
46
Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a. ( 24481606 )
2014
47
X-linked agammaglobulinemia combined with juvenile idiopathic arthritis and invasive Klebsiella pneumoniae polyarticular septic arthritis. ( 24567239 )
2014
48
X-Linked agammaglobulinemia in a child with Klinefelter's syndrome. ( 24477949 )
2014
49
Progressive neurodegenerative syndrome in a patient with X-linked agammaglobulinemia receiving intravenous immunoglobulin therapy. ( 25237746 )
2014
50
Autosomal recessive agammaglobulinemia: the third case of IgI^ deficiency due to a novel non-sense mutation. ( 24722855 )
2014

Variations for Agammaglobulinemia

Expression for Agammaglobulinemia

LifeMap Discovery
Genes differentially expressed in tissues of Agammaglobulinemia patients vs. healthy controls: 35 (show all 31)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 FCRLA Fc receptor-like A Blood - 6.98 0.000
2 CD19 CD19 molecule Blood - 6.59 0.000
3 VPREB3 pre-B lymphocyte 3 Blood - 6.37 0.000
4 CD79A CD79a molecule, immunoglobulin-associated alpha Blood - 6.11 0.000
5 OSBPL10 oxysterol binding protein-like 10 Blood - 5.82 0.000
6 TNFRSF17 tumor necrosis factor receptor superfamily, member 17 Blood - 5.79 0.000
7 CNTNAP2 contactin associated protein-like 2 Blood - 5.13 0.000
8 BLK BLK proto-oncogene, Src family tyrosine kinase Blood - 5.09 0.000
9 EBF1 early B-cell factor 1 Blood - 4.81 0.000
10 JCHAIN joining chain of multimeric IgA and IgM Blood - 4.59 0.000
11 CD22 CD22 molecule Blood - 4.46 0.000
12 POU2AF1 POU class 2 associating factor 1 Blood - 4.45 0.000
13 LARGE like-glycosyltransferase Blood - 4.37 0.000
14 TCL1A T-cell leukemia/lymphoma 1A Blood - 4.26 0.000
15 SPIB Spi-B transcription factor (Spi-1/PU.1 related) Blood - 4.15 0.000
16 KLHL14 kelch-like family member 14 Blood - 4.08 0.000
17 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B Blood - 4.07 0.000
18 CXCR5 chemokine (C-X-C motif) receptor 5 Blood - 4.03 0.000
19 CD79B CD79b molecule, immunoglobulin-associated beta Blood - 3.95 0.000
20 COBLL1 cordon-bleu WH2 repeat protein-like 1 Blood - 3.89 0.000
21 FCRL1 Fc receptor-like 1 Blood - 3.85 0.000
22 FCRL2 Fc receptor-like 2 Blood - 3.84 0.000
23 SNX22 sorting nexin 22 Blood - 3.80 0.000
24 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) Blood - 3.79 0.000
25 HLA-DOB major histocompatibility complex, class II, DO beta Blood - 3.66 0.000
26 LAMA5 laminin, alpha 5 Blood - 3.40 0.000
27 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 Blood - 3.39 0.000
28 GLDC glycine dehydrogenase (decarboxylating) Blood - 3.28 0.000
29 KIAA0125 KIAA0125 Blood - 3.21 0.000
30 KCNG1 potassium channel, voltage gated modifier subfamily G, member 1 Blood - 3.15 0.000
31 COCH cochlin Blood - 3.07 0.000
Search GEO for disease gene expression data for Agammaglobulinemia.

Pathways for Agammaglobulinemia

Pathways related to Agammaglobulinemia according to GeneCards Suite gene sharing:

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 BLNK BTK CD19 CD40LG CD79A CD79B
2
Show member pathways
13.23 BTK CD19 CD79A CD79B CXCL12 ITK
3
Show member pathways
13.11 BLNK BTK CD19 CD79A CD79B CR2
4
Show member pathways
12.97 BLNK BTK CD79A CD79B CXCL12 ITK
5
Show member pathways
12.81 BTK CD79A CD79B CXCL12 IGHM PIK3R1
6
Show member pathways
12.59 BLNK BTK CD19 CD79A CD79B PIK3R1
7
Show member pathways
12.53 BLNK BTK CD40LG CD79A CD79B IGHM
8
Show member pathways
12.3 BLNK BTK CD19 CD79A CD79B CR2
9 12.3 BLNK BTK CD19 CD40LG CD79A CXCL12
10 12.01 BTK ITK SH2D1A SRC
11
Show member pathways
12.01 BLNK BTK CD79A CD79B PIK3R1
12 11.87 CD19 CD79A CD79B
13
Show member pathways
11.85 BLNK BTK CD19 CD79A CD79B CR2
14 11.83 PIK3R1 SRC TCF3
15
Show member pathways
11.83 BLNK BTK CD19 CD79A CD79B ITK
16 11.82 BLNK BTK CD40LG CXCL12
17
Show member pathways
11.75 BTK PIK3R1 SRC
18 11.63 CXCL12 PIK3R1 SRC
19 11.47 CD19 CD40LG CR2
20 11.37 BTK ITK PIK3R1 SRC
21 11 BLNK BTK CD19 CD40LG CD79A IGLL1
22 10.91 PIK3R1 SRC
23 10.88 PIK3R1 SRC
24 10.87 BLNK PIK3R1
25 10.84 PIK3R1 SRC
26 10.74 PIK3R1 SRC
27 10.58 PIK3R1 SRC

GO Terms for Agammaglobulinemia

Cellular components related to Agammaglobulinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 BLNK BTK CD19 CD40LG CD79A CD79B
2 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.43 BTK ITK SRC
3 external side of plasma membrane GO:0009897 9.17 CD19 CD40LG CD79A CD79B CXCL12 IGHM
4 B cell receptor complex GO:0019815 8.96 CD79A CD79B

Biological processes related to Agammaglobulinemia according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.89 CD40LG CD79B CR2 CXCL12 IGLL1
2 innate immune response GO:0045087 9.87 BTK CR2 IGHM IGLL1 ITK SH2D1A
3 immune system process GO:0002376 9.8 BTK CD79A CD79B CR2 ITK SH2D1A
4 leukocyte migration GO:0050900 9.78 IGHM IGLL1 PIK3R1 SRC
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.71 BLNK BTK ITK
6 platelet activation GO:0030168 9.7 CD40LG PIK3R1 SRC
7 T cell costimulation GO:0031295 9.69 CD40LG PIK3R1 SRC
8 cellular defense response GO:0006968 9.63 CD19 ITK SH2D1A
9 adaptive immune response GO:0002250 9.63 BTK CD79A CD79B IGHM ITK SH2D1A
10 peptidyl-tyrosine autophosphorylation GO:0038083 9.61 BTK ITK SRC
11 B cell proliferation GO:0042100 9.58 CD40LG CD79A CR2
12 B cell activation GO:0042113 9.54 BLNK BTK CD79A
13 B cell receptor signaling pathway GO:0050853 9.43 BTK CD19 CD79A CD79B IGHM IGLL1
14 B cell differentiation GO:0030183 9.17 BLNK CD40LG CD79A CD79B CR2 PIK3R1

Molecular functions related to Agammaglobulinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 9.16 BLNK PIK3R1
2 SH3/SH2 adaptor activity GO:0005070 9.13 BLNK SH2D1A SRC
3 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.8 BTK ITK SRC

Sources for Agammaglobulinemia

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