MCID: AGM001
MIFTS: 70

Agammaglobulinemia

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

Aliases & Classifications for Agammaglobulinemia

MalaCards integrated aliases for Agammaglobulinemia:

Name: Agammaglobulinemia 12 72 28 51 41 14 69
Hypogammaglobulinemia 12 51 69
Mu Heavy Chain Deficiency 12
Mu-Heavy Chain Disease 55
Agammaglobulinemias 36
Mu-Chain Disease 69
Mu-Hcd 55
Ighm 12

Characteristics:

Orphanet epidemiological data:

55
mu-heavy chain disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

Classifications:



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 and agammaglobulinemia, non-bruton type, and has symptoms including nephropathy, osteoporosis and splenomegaly. An important gene associated with Agammaglobulinemia is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Primary immunodeficiency and Class I MHC mediated antigen processing and presentation. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone and bone marrow, and related phenotypes are hematopoietic system and cellular

Wikipedia : 72 Hypogammaglobulinemia is a type of primary immunodeficiency disease in which not enough gamma globulins... more...

Related Diseases for Agammaglobulinemia

Diseases in the Agammaglobulinemia family:

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

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

(show top 50) (show all 219)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, x-linked 34.3 BTK IGHM SRC
2 agammaglobulinemia, non-bruton type 32.2 BLNK CD79A CD79B IGHM IGLL1 LRRC8A
3 immunoglobulin g deficiency 31.6 CD40LG CD79A
4 heavy chain disease 31.1 CD40LG CD79A
5 common variable immunodeficiency 30.1 BTK CD19 CD40LG CD79A CR2 SH2D1A
6 combined immunodeficiency, x-linked 29.6 CD19 CD40LG CD79A
7 immunodeficiency with hyper-igm, type 1 29.5 BTK CD40LG CD79A
8 macroglobulinemia 29.3 BTK CD40LG CXCL12
9 transient hypogammaglobulinemia of infancy 29.2 CD19 CD40LG CD79A
10 dysgammaglobulinemia 28.8 CD40LG CD79A SH2D1A
11 b cell deficiency 27.6 BTK CD19 CD40LG CD79A CR2 IGLL1
12 lymphoma, non-hodgkin, familial 27.5 CD19 CD40LG CR2 CXCL12 SH2D1A
13 agammaglobulinemia 1, autosomal recessive 12.3
14 agammaglobulinemia 6, autosomal recessive 12.2
15 agammaglobulinemia 2, autosomal recessive 12.2
16 agammaglobulinemia 3, autosomal recessive 12.2
17 agammaglobulinemia 4, autosomal recessive 12.2
18 agammaglobulinemia 5, autosomal dominant 12.2
19 agammaglobulinemia 7, autosomal recessive 12.2
20 agammaglobulinemia 8, autosomal dominant 12.2
21 agammaglobulinemia, x-linked, type 2 11.9
22 primary agammaglobulinemia 11.9
23 agammaglobulinemia, microcephaly, and severe dermatitis 11.9
24 achondroplasia and swiss type agammaglobulinemia 11.8
25 isolated agammaglobulinemia 11.8
26 isolated growth hormone deficiency, type iii 11.3
27 mohr-tranebjaerg syndrome 11.0
28 immunodeficiency 15 11.0
29 immunodeficiency 46 10.8
30 good syndrome 10.8
31 short-limb skeletal dysplasia with severe combined immunodeficiency 10.8
32 severe combined immunodeficiency, x-linked 10.8
33 barth syndrome 10.8
34 bird fancier's lung 10.5 CD79A IGLL1
35 selective igg deficiency disease 10.2 CD40LG CD79A
36 c1q nephropathy 10.2 CD40LG CD79A
37 meningovascular neurosyphilis 10.2 CD40LG CD79A
38 alpha chain disease 10.2 CD40LG CD79A
39 brill-zinsser disease 10.2 CD40LG CD79A
40 exudative glomerulonephritis 10.2 CD40LG CD79A
41 cork-handlers' disease 10.2 CD40LG CD79A
42 salpingo-oophoritis 10.2 CD40LG CD79A
43 arthritis 10.2
44 early yaws 10.2 CD40LG CD79A
45 chronic interstitial cystitis 10.2 CD40LG CD79A
46 axillary adenitis 10.2 CD40LG CD79A
47 cryofibrinogenemia 10.2 CD40LG CD79A
48 trichostrongyloidiasis 10.2 CD40LG CD79A
49 subacute bacterial endocarditis 10.2 CD40LG CD79A
50 heterophyiasis 10.2 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:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000112
2 osteoporosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000939
3 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
4 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
5 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
6 fever 55 31 frequent (33%) Frequent (79-30%) HP:0001945
7 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
8 lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0002716
9 osteolysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002797
10 abnormality of bone marrow cell morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005561
11 increased antibody level in blood 55 31 hallmark (90%) Very frequent (99-80%) HP:0010702
12 bence jones proteinuria 55 31 frequent (33%) Frequent (79-30%) HP:0030156
13 abnormality of b cell number 55 Very frequent (99-80%)
14 abnormality of b cell count 31 hallmark (90%) HP:0010975

MGI Mouse Phenotypes related to Agammaglobulinemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 CD40LG CD79A CD79B CR2 CXCL12 IBTK
2 cellular MP:0005384 9.96 BLNK BTK CD19 CD40LG CD79A CXCL12
3 immune system MP:0005387 9.8 BLNK BTK CD19 CD40LG CD79A CD79B
4 neoplasm MP:0002006 9.17 PIK3R1 SRC TCF3 BLNK BTK CD19

Drugs & Therapeutics for Agammaglobulinemia

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

(show top 50) (show all 82)
# 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
Adenosine Approved, Investigational Phase 3,Phase 1,Phase 2 58-61-7 60961
7
alemtuzumab Approved, Investigational Phase 2 216503-57-0
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
Melphalan Approved Phase 2 148-82-3 460612 4053
10 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
11
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
12
Lenalidomide Approved Phase 2 191732-72-6 216326
13 Pharmaceutical Solutions Phase 2
14 Analgesics Phase 1, Phase 2
15 Anti-Arrhythmia Agents Phase 1, Phase 2
16 Neurotransmitter Agents Phase 1, Phase 2
17 Peripheral Nervous System Agents Phase 1, Phase 2
18 Vasodilator Agents Phase 1, Phase 2
19 Alkylating Agents Phase 2
20 Antimetabolites Phase 2
21 Antimetabolites, Antineoplastic Phase 2
22 Immunosuppressive Agents Phase 2,Phase 1
23 Anti-Infective Agents Phase 2,Phase 1,Early Phase 1
24 Antiviral Agents Phase 2,Phase 1
25 Vaccines Phase 2
26 Anti-Bacterial Agents Phase 2,Phase 1,Early Phase 1
27 Interferon-alpha Phase 2
28 interferons Phase 2
29 Adjuvants, Immunologic Phase 2
30 Angiogenesis Inhibitors Phase 2
31 Angiogenesis Modulating Agents Phase 2
32 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
33
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
34
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 1 24280-93-1 446541
36 Anti-HIV Agents Phase 1
37 Anti-Retroviral Agents Phase 1
38 JM 3100 Phase 1
39 Antibiotics, Antitubercular Phase 1,Early Phase 1
40 Antifungal Agents Phase 1
41 Antirheumatic Agents Phase 1
42 Antitubercular Agents Phase 1
43 Calcineurin Inhibitors Phase 1
44 Cyclosporins Phase 1
45 Dermatologic Agents Phase 1
46
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
47
Busulfan Approved, Investigational 55-98-1 2478
48
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
49
Etoposide Approved 33419-42-0 36462
50
Methotrexate Approved 1959-05-2, 59-05-2 126941

Interventional clinical trials:

(show all 37)

# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4 Vivaglobin
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 Immunoglobulins Intravenous (Human)
5 Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
6 Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
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 IVIG-L
9 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
10 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
11 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
12 Cytomegalovirus Hyperimmune Globulin (CMV-Ig) Replacement in Hypogammaglobulinemic Lung Transplant Recipients Completed NCT00137748 Phase 2, Phase 3 CMV-Ig
13 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
14 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
15 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
16 Intravenous Immunoglobulin (IVIG) in Lung Transplantation Unknown status NCT00115778 Phase 2 Intravenous immunoglobulin
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 Immune Globulin Intravenous (Human), 10% TVR (Triple Virally Reduced) Solution;Gammagard S/D (Solvent/Detergent)
18 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
19 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
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 pegylated interferon alfa 2
22 Lenalidomide as Immune Adjuvant in Patient's With Chronic Lymphocytic Leukemia (CLL) Terminated NCT01924169 Phase 2 Lenalidomide
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 Mozobil (TM)
25 Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Active, not recruiting NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
26 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
27 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
28 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401
29 Post-bypass Prophylactic IVIG in Infants and Neonates Completed NCT02043379 IVIG
30 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
31 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Recruiting NCT02960399
32 Subcutaneous Ig in Allogeneic Stem Cell Transplant Recipients Recruiting NCT03401268 subcutaneous immunoglobulin
33 Investigation of Immune Disorders and Deficiencies Active, not recruiting NCT01981785
34 Personalized Immunotherapeutic for Antibiotic-resistant Infection Enrolling by invitation NCT02508584 Early Phase 1
35 Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs) Not yet recruiting NCT03232203 STRIMVELIS
36 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
37 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:

# Genetic test Affiliating Genes
1 Agammaglobulinemia 28

Anatomical Context for Agammaglobulinemia

MalaCards organs/tissues related to Agammaglobulinemia:

38
B Cells, Bone, Bone Marrow, T Cells, Lung, Monocytes, Thymus

Publications for Agammaglobulinemia

Articles related to Agammaglobulinemia:

(show top 50) (show all 572)
# Title Authors Year
1
Clinical and Genetic Features of the Patients with X-Linked Agammaglobulinemia from Turkey: Single Center Experience. ( 29424453 )
2018
2
Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1. ( 29178053 )
2018
3
X-linked agammaglobulinemia complicated with pulmonary aspergillosis. ( 29356289 )
2018
4
An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers. ( 29307603 )
2018
5
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains. ( 29202590 )
2018
6
Serial Serum Immunoglobulin G (IgG) Trough Levels in Patients with X-linked Agammaglobulinemia on Replacement Therapy with Intravenous Immunoglobulin: Its Correlation with Infections in Indian Children. ( 28321612 )
2017
7
Bruton Agammaglobulinemia ( 28846295 )
2017
8
Autosomal recessive agammaglobulinemia due to defect in I1 heavy chain caused by a novel mutation in the IGHM gene. ( 28769069 )
2017
9
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia. ( 28705765 )
2017
10
Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center. ( 28261296 )
2017
11
Pseudomonas aeruginosa Liver Abscess as the First Manifestation of X-Linked Agammaglobulinemia With a Novel Mutation. ( 28398200 )
2017
12
A child with X-linked agammaglobulinemia and Kawasaki disease: an unusual association. ( 28365793 )
2017
13
Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia. ( 28761297 )
2017
14
Helicobacter bilis-Associated Suppurative Cholangitis in a Patient with X-Linked Agammaglobulinemia. ( 28856582 )
2017
15
Gastrointestinal Manifestations in X-linked Agammaglobulinemia. ( 28236219 )
2017
16
Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis. ( 28807838 )
2017
17
X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan. ( 28304004 )
2017
18
IVIG-triggered tubulointerstitial nephritis in X-linked agammaglobulinemia. ( 28707726 )
2017
19
Nitazoxanide Is an Ineffective Treatment of Chronic Norovirus in Patients With X-Linked Agammaglobulinemia and May Yield False-Negative Polymerase Chain Reaction Findings in Stool Specimens. ( 28362905 )
2017
20
The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement. ( 28422989 )
2017
21
Intracranial abscess as a complication of X-linked agammaglobulinemia. ( 27550432 )
2016
22
Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy. ( 27713031 )
2016
23
Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. ( 26883540 )
2016
24
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs(*)5), in a Korean family with X-linked agammaglobulinemia. ( 28018445 )
2016
25
Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. ( 26873735 )
2016
26
Helicobacter cinaedi bacteremia resulting from antimicrobial resistance acquired during treatment for X-linked agammaglobulinemia. ( 27040158 )
2016
27
Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK. ( 27091141 )
2016
28
Spondylodiscitis in a Boy with X-linked Agammaglobulinemia: an Unusual Occurrence. ( 26961362 )
2016
29
Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation. ( 27576013 )
2016
30
Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia. ( 28928935 )
2016
31
X-linked agammaglobulinemia: Twenty years of single-center experience from North West India. ( 27593100 )
2016
32
Bruton's agammaglobulinemia in an adult male due to a novel mutation: a case report. ( 27867589 )
2016
33
Treatment of Chronic Enterovirus Encephalitis With Fluoxetine in a Patient With X-Linked Agammaglobulinemia. ( 27640319 )
2016
34
Nucleotide variation in Sabin type 3 poliovirus from an Albanian infant with agammaglobulinemia and vaccine associated poliomyelitis. ( 27287521 )
2016
35
Clinical and mutational features of X-linked agammaglobulinemia in Mexico. ( 26960951 )
2016
36
Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature. ( 27722150 )
2016
37
X-linked Agammaglobulinemia. ( 26909497 )
2016
38
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects. ( 26910880 )
2016
39
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
40
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). ( 27512878 )
2016
41
High-throughput sequencing reveals an altered T cell repertoire in X-linked agammaglobulinemia. ( 26360253 )
2015
42
Are patients with X-linked agammaglobulinemia at increased risk of developing acute lymphoblastic leukemia? ( 25631529 )
2015
43
Successful hematopoietic cell transplantation in a patient with X-linked agammaglobulinemia and acute myeloid leukemia. ( 25900577 )
2015
44
X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis. ( 25757060 )
2015
45
X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia. ( 25591849 )
2015
46
X-linked agammaglobulinemia in a child conceived using a donor egg:A a medicolegal quandary. ( 25704966 )
2015
47
Nutritional Status in Agammaglobulinemia: An Italian Multicenter Study. ( 26384979 )
2015
48
A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient. ( 25680287 )
2015
49
PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT. ( 26603238 )
2015
50
Splice-correction strategies for treatment of x-linked agammaglobulinemia. ( 25638286 )
2015

Variations for Agammaglobulinemia

Expression for Agammaglobulinemia

LifeMap Discovery
Genes differentially expressed in tissues of Agammaglobulinemia patients vs. healthy controls: 35 (show all 31)
# 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 KEGG:

36
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

Pathways related to Agammaglobulinemia according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 BLNK BTK CD19 CD40LG CD79A CD79B
2
Show member pathways
13.18 BTK CD19 CD79A CD79B CXCL12 PIK3R1
3
Show member pathways
13.08 BLNK BTK CD19 CD79A CD79B CR2
4
Show member pathways
12.94 BLNK BTK CD79A CD79B CXCL12 PIK3R1
5
Show member pathways
12.74 BTK CD79A CD79B CXCL12 IGHM PIK3R1
6
Show member pathways
12.59 BLNK BTK CD19 CD79A CD79B PIK3R1
7
Show member pathways
12.47 BLNK BTK CD40LG CD79A CD79B IGHM
8 12.37 BLNK BTK CD19 CD40LG CD79A CXCL12
9
Show member pathways
12.14 BLNK BTK CD19 CD79A CD79B CR2
10
Show member pathways
12.13 BLNK BTK CD19 CD79A CD79B CR2
11
Show member pathways
11.97 BLNK BTK CD79A CD79B PIK3R1
12 11.9 BTK PIK3R1 SRC
13 11.9 BTK PIK3R1 SRC
14 11.85 CD19 CD79A CD79B
15 11.82 PIK3R1 SRC TCF3
16
Show member pathways
11.82 BLNK BTK CD19 CD79A CD79B PIK3R1
17 11.8 BLNK BTK CD40LG CXCL12
18
Show member pathways
11.75 BTK PIK3R1 SRC
19 11.62 CXCL12 PIK3R1 SRC
20 11.45 CD19 CD40LG CR2
21 11.33 BTK PIK3R1 SRC
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 10.67 BLNK BTK CD19 CD40LG CD79A IGLL1
28 10.58 PIK3R1 SRC

GO Terms for Agammaglobulinemia

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 BLNK BTK CD19 CD40LG CD79A CD79B
2 external side of plasma membrane GO:0009897 9.17 CD19 CD40LG CD79A CD79B CXCL12 IGHM
3 B cell receptor complex GO:0019815 8.96 CD79A CD79B
4 membrane GO:0016020 10.1 BLNK BTK CD19 CD40LG CD79A CD79B

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.85 CD40LG CD79B CR2 CXCL12 IGLL1
2 innate immune response GO:0045087 9.8 BTK CR2 IGHM IGLL1 SH2D1A SRC
3 leukocyte migration GO:0050900 9.73 IGHM IGLL1 PIK3R1 SRC
4 immune system process GO:0002376 9.7 BTK CD79A CD79B CR2 IGHM SH2D1A
5 platelet activation GO:0030168 9.67 CD40LG PIK3R1 SRC
6 T cell costimulation GO:0031295 9.65 CD40LG PIK3R1 SRC
7 adaptive immune response GO:0002250 9.65 BTK CD79A CD79B IGHM SH2D1A
8 B cell proliferation GO:0042100 9.58 CD40LG CD79A CR2
9 B cell activation GO:0042113 9.54 BLNK BTK CD79A
10 B cell receptor signaling pathway GO:0050853 9.43 BTK CD19 CD79A CD79B IGHM IGLL1
11 B cell differentiation GO:0030183 9.17 BLNK CD40LG CD79A CD79B CR2 PIK3R1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 8.96 BLNK PIK3R1
2 SH3/SH2 adaptor activity GO:0005070 8.8 BLNK SH2D1A SRC

Sources for Agammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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