MCID: AGM001
MIFTS: 69

Agammaglobulinemia

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

Aliases & Classifications for Agammaglobulinemia

MalaCards integrated aliases for Agammaglobulinemia:

Name: Agammaglobulinemia 12 76 29 55 6 44 15 40 73
Hypogammaglobulinemia 12 55 73
Mu Heavy Chain Deficiency 12
Mu-Heavy Chain Disease 59
Agammaglobulinemias 37
Mu-Chain Disease 73
Mu-Hcd 59
Ighm 12

Characteristics:

Orphanet epidemiological data:

59
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 1, autosomal recessive and agammaglobulinemia, x-linked. 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 nephropathy and osteoporosis

Wikipedia : 76 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 206)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 1, autosomal recessive 34.7 BTK IGHM
2 agammaglobulinemia, x-linked 34.4 BTK IGHM SRC
3 immunoglobulin g deficiency 31.8 CD40LG CD79A
4 agammaglobulinemia, non-bruton type 31.4 BLNK BTK CD79A CD79B IGHM IGLL1
5 heavy chain disease 31.3 CD40LG CD79A
6 common variable immunodeficiency 29.8 BTK CD19 CD40LG CD79A SH2D1A
7 immunodeficiency with hyper-igm, type 1 29.7 BTK CD40LG CD79A
8 combined immunodeficiency, x-linked 29.5 CD19 CD40LG CD79A
9 macroglobulinemia 29.2 BTK CD40LG CXCL12
10 transient hypogammaglobulinemia of infancy 29.1 CD19 CD40LG CD79A
11 dysgammaglobulinemia 28.6 CD40LG CD79A SH2D1A
12 b cell deficiency 27.3 BTK CD19 CD40LG CD79A IGLL1 SH2D1A
13 lymphoma, non-hodgkin, familial 26.7 CD19 CD40LG CD79A CXCL12 SH2D1A
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 11.2
27 mohr-tranebjaerg syndrome 11.0
28 immunodeficiency 15 11.0
29 immunodeficiency 46 10.8
30 good syndrome 10.8
31 bird fancier's lung 10.8 CD79A IGLL1
32 short-limb skeletal dysplasia with severe combined immunodeficiency 10.8
33 severe combined immunodeficiency, x-linked 10.8
34 barth syndrome 10.8
35 selective igg deficiency disease 10.4 CD40LG CD79A
36 c1q nephropathy 10.4 CD40LG CD79A
37 meningovascular neurosyphilis 10.4 CD40LG CD79A
38 alpha chain disease 10.4 CD40LG CD79A
39 brill-zinsser disease 10.4 CD40LG CD79A
40 exudative glomerulonephritis 10.4 CD40LG CD79A
41 cork-handlers' disease 10.4 CD40LG CD79A
42 salpingo-oophoritis 10.4 CD40LG CD79A
43 early yaws 10.4 CD40LG CD79A
44 chronic interstitial cystitis 10.4 CD40LG CD79A
45 axillary adenitis 10.4 CD40LG CD79A
46 cryofibrinogenemia 10.4 CD40LG CD79A
47 trichostrongyloidiasis 10.4 CD40LG CD79A
48 subacute bacterial endocarditis 10.4 CD40LG CD79A
49 heterophyiasis 10.4 CD40LG CD79A
50 orbital granuloma 10.3 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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
2 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
3 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
4 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
5 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
6 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
7 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
8 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
9 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
10 abnormality of bone marrow cell morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005561
11 increased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0010702
12 bence jones proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0030156
13 abnormality of b cell number 59 Very frequent (99-80%)
14 abnormal b cell count 32 hallmark (90%) HP:0010975

MGI Mouse Phenotypes related to Agammaglobulinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 CD79A CD79B CXCL12 IBTK LRRC8A BLNK
2 cellular MP:0005384 9.96 CD79A CXCL12 LRRC8A BLNK PIK3R1 BTK
3 immune system MP:0005387 9.77 CD79A CD79B CXCL12 IBTK LRRC8A BLNK
4 neoplasm MP:0002006 9.17 CD79A BLNK PIK3R1 BTK SRC CD19

Drugs & Therapeutics for Agammaglobulinemia

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

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
2 Immunoglobulins Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
3 gamma-Globulins Phase 4,Phase 3,Phase 2,Not Applicable
4 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2,Not Applicable
5 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2,Not Applicable
6 Immunoglobulin G Phase 4,Phase 3
7
Adenosine Approved, Investigational Phase 3,Phase 1,Phase 2 58-61-7 60961
8
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
Melphalan Approved Phase 2 148-82-3 4053 460612
12
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
13
Lenalidomide Approved Phase 2 191732-72-6 216326
14 Anti-Infective Agents Phase 2,Phase 1,Early Phase 1,Not Applicable
15 Antiviral Agents Phase 2,Phase 1
16 Interferon-alpha Phase 2
17 interferons Phase 2
18 Pharmaceutical Solutions Phase 2
19 Analgesics Phase 1, Phase 2
20 Anti-Arrhythmia Agents Phase 1, Phase 2
21 Neurotransmitter Agents Phase 1, Phase 2
22 Peripheral Nervous System Agents Phase 1, Phase 2,Not Applicable
23 Vasodilator Agents Phase 1, Phase 2
24 Alkylating Agents Phase 2,Not Applicable
25 Antimetabolites Phase 2,Not Applicable
26 Antimetabolites, Antineoplastic Phase 2,Not Applicable
27 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
28 Immunosuppressive Agents Phase 2,Phase 1,Not Applicable
29 Anti-Bacterial Agents Phase 2,Phase 1,Early Phase 1
30 Adjuvants, Immunologic Phase 2
31 Angiogenesis Inhibitors Phase 2
32 Angiogenesis Modulating Agents Phase 2
33 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
34 Vaccines Phase 2,Not Applicable
35
Miconazole Approved, Investigational, Vet_approved Phase 1,Not Applicable 22916-47-8 4189
36
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
37
Mycophenolic acid Approved Phase 1 24280-93-1 446541
38 Anti-HIV Agents Phase 1
39 Anti-Retroviral Agents Phase 1
40 JM 3100 Phase 1
41 Antibiotics, Antitubercular Phase 1,Early Phase 1
42 Antifungal Agents Phase 1,Not Applicable
43 Antirheumatic Agents Phase 1,Not Applicable
44 Antitubercular Agents Phase 1
45 Calcineurin Inhibitors Phase 1,Not Applicable
46 Cyclosporins Phase 1,Not Applicable
47 Dermatologic Agents Phase 1,Not Applicable
48
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
49
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
50
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907

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 Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled Trial Unknown status NCT02661477 Phase 2 pegylated interferon alfa 2
18 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)
19 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
20 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
21 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 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 Not Applicable
29 Post-bypass Prophylactic IVIG in Infants and Neonates Completed NCT02043379 Not Applicable IVIG
30 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
31 Subcutaneous Ig in Allogeneic Stem Cell Transplant Recipients Recruiting NCT03401268 Not Applicable subcutaneous immunoglobulin
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 Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs) Not yet recruiting NCT03232203 STRIMVELIS
35 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399 Not Applicable
36 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable 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 29

Anatomical Context for Agammaglobulinemia

MalaCards organs/tissues related to Agammaglobulinemia:

41
B Cells, Bone, Bone Marrow, T Cells, Lung, Monocytes, Thymus

Publications for Agammaglobulinemia

Articles related to Agammaglobulinemia:

(show top 50) (show all 597)
# Title Authors Year
1
Emergence of Carbapenem Non-susceptible Campylobacter coli after Long-term Treatment against Recurrent Bacteremia in a Patient with X-linked Agammaglobulinemia. ( 29491300 )
2018
2
Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia. ( 29543351 )
2018
3
X-linked agammaglobulinemia complicated with pulmonary aspergillosis. ( 29356289 )
2018
4
Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1. ( 29178053 )
2018
5
<i>Helicobacter cinaedi</i> bacteremia mimicking eosinophilic fasciitis in a patient with X-linked agammaglobulinemia. ( 29693060 )
2018
6
An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers. ( 29307603 )
2018
7
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains. ( 29202590 )
2018
8
Clinical and Genetic Features of the Patients with X-Linked Agammaglobulinemia from Turkey: Single Center Experience. ( 29424453 )
2018
9
Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country. ( 29503650 )
2018
10
Bruton Agammaglobulinemia ( 28846295 )
2017
11
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
12
Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis. ( 28807838 )
2017
13
Helicobacter bilis-Associated Suppurative Cholangitis in a Patient with X-Linked Agammaglobulinemia. ( 28856582 )
2017
14
IVIG-triggered tubulointerstitial nephritis in X-linked agammaglobulinemia. ( 28707726 )
2017
15
X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan. ( 28304004 )
2017
16
A child with X-linked agammaglobulinemia and Kawasaki disease: an unusual association. ( 28365793 )
2017
17
Gastrointestinal Manifestations in X-linked Agammaglobulinemia. ( 28236219 )
2017
18
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
19
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia. ( 28705765 )
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
Autosomal recessive agammaglobulinemia due to defect in I1 heavy chain caused by a novel mutation in the IGHM gene. ( 28769069 )
2017
22
Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center. ( 28261296 )
2017
23
Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia. ( 28761297 )
2017
24
Pseudomonas aeruginosa Liver Abscess as the First Manifestation of X-Linked Agammaglobulinemia With a Novel Mutation. ( 28398200 )
2017
25
Nucleotide variation in Sabin type 3 poliovirus from an Albanian infant with agammaglobulinemia and vaccine associated poliomyelitis. ( 27287521 )
2016
26
Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation. ( 27576013 )
2016
27
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
28
X-linked agammaglobulinemia: Twenty years of single-center experience from North West India. ( 27593100 )
2016
29
Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature. ( 27722150 )
2016
30
Intracranial abscess as a complication of X-linked agammaglobulinemia. ( 27550432 )
2016
31
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
32
Clinical and mutational features of X-linked agammaglobulinemia in Mexico. ( 26960951 )
2016
33
Treatment of Chronic Enterovirus Encephalitis With Fluoxetine in a Patient With X-Linked Agammaglobulinemia. ( 27640319 )
2016
34
Helicobacter cinaedi bacteremia resulting from antimicrobial resistance acquired during treatment for X-linked agammaglobulinemia. ( 27040158 )
2016
35
Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy. ( 27713031 )
2016
36
Spondylodiscitis in a Boy with X-linked Agammaglobulinemia: an Unusual Occurrence. ( 26961362 )
2016
37
Bruton's agammaglobulinemia in an adult male due to a novel mutation: a case report. ( 27867589 )
2016
38
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects. ( 26910880 )
2016
39
Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. ( 26883540 )
2016
40
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). ( 27512878 )
2016
41
Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK. ( 27091141 )
2016
42
X-linked Agammaglobulinemia. ( 26909497 )
2016
43
Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. ( 26873735 )
2016
44
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs(*)5), in a Korean family with X-linked agammaglobulinemia. ( 28018445 )
2016
45
Evolving practice: x-linked agammaglobulinemia and lung transplantation. ( 25736826 )
2015
46
Nutritional Status in Agammaglobulinemia: An Italian Multicenter Study. ( 26384979 )
2015
47
A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient. ( 25680287 )
2015
48
X-linked agammaglobulinemia in a child conceived using a donor egg:A a medicolegal quandary. ( 25704966 )
2015
49
PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT. ( 26603238 )
2015
50
High-throughput sequencing reveals an altered T cell repertoire in X-linked agammaglobulinemia. ( 26360253 )
2015

Variations for Agammaglobulinemia

ClinVar genetic disease variations for Agammaglobulinemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BTK NM_000061.2(BTK): c.121G> A (p.Glu41Lys) single nucleotide variant Likely pathogenic rs1057520045 GRCh37 Chromosome X, 100630152: 100630152
2 BTK NM_000061.2(BTK): c.121G> A (p.Glu41Lys) single nucleotide variant Likely pathogenic rs1057520045 GRCh38 Chromosome X, 101375164: 101375164

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:

37
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

Pathways related to Agammaglobulinemia according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 BLNK BTK CD19 CD40LG CD79A CD79B
2
Show member pathways
13.18 BTK CD40LG CXCL12 PIK3R1 SRC TCF3
3
Show member pathways
13.18 BTK CD19 CD79A CD79B CXCL12 PIK3R1
4
Show member pathways
12.94 BLNK BTK CD79A CD79B CXCL12 PIK3R1
5
Show member pathways
12.77 BTK CD40LG CD79A CD79B CXCL12 IGHM
6
Show member pathways
12.7 BLNK BTK CD19 CD79A CD79B PIK3R1
7
Show member pathways
12.55 BLNK BTK CD19 CD79A CD79B PIK3R1
8
Show member pathways
12.47 BLNK BTK CD79A CD79B IGHM PIK3R1
9
Show member pathways
12.29 BLNK BTK CD19 CD79A CD79B IGHM
10
Show member pathways
12.24 BLNK BTK CD19 CD79A CD79B IBTK
11
Show member pathways
12.09 BLNK BTK PIK3R1 SRC
12 12.07 BLNK BTK CD19 CD40LG CD79A CXCL12
13
Show member pathways
11.97 BLNK BTK CD79A CD79B PIK3R1
14 11.93 BLNK BTK PIK3R1
15 11.9 BTK PIK3R1 SRC
16 11.89 BTK PIK3R1 SRC
17 11.85 CD19 CD79A CD79B
18 11.82 PIK3R1 SRC TCF3
19 11.8 BLNK BTK CD40LG CXCL12
20
Show member pathways
11.76 BLNK BTK CD19 CD79A CD79B PIK3R1
21
Show member pathways
11.75 BTK PIK3R1 SRC
22 11.62 CXCL12 PIK3R1 SRC
23 11.33 BTK PIK3R1 SRC
24 10.92 PIK3R1 SRC
25 10.88 PIK3R1 SRC
26 10.87 BLNK PIK3R1
27 10.84 PIK3R1 SRC
28 10.74 PIK3R1 SRC
29 10.67 BLNK BTK CD19 CD40LG CD79A IGLL1
30 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 external side of plasma membrane GO:0009897 9.17 CD19 CD40LG CD79A CD79B CXCL12 IGHM
2 B cell receptor complex GO:0019815 8.96 CD79A CD79B
3 plasma membrane GO:0005886 10 BLNK BTK CD19 CD40LG CD79A CD79B
4 membrane GO:0016020 10 BLNK BTK CD19 CD40LG CD79A CD79B

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.83 BTK IGHM IGLL1 SH2D1A SRC
2 immune system process GO:0002376 9.73 BTK CD79A CD79B IGHM SH2D1A SRC
3 leukocyte migration GO:0050900 9.67 IGHM IGLL1 PIK3R1 SRC
4 platelet activation GO:0030168 9.65 CD40LG PIK3R1 SRC
5 phosphatidylinositol phosphorylation GO:0046854 9.63 CD19 PIK3R1 SRC
6 T cell costimulation GO:0031295 9.58 CD40LG PIK3R1 SRC
7 adaptive immune response GO:0002250 9.55 BTK CD79A CD79B IGHM SH2D1A
8 B cell activation GO:0042113 9.5 BLNK BTK CD79A
9 B cell receptor signaling pathway GO:0050853 9.43 BTK CD19 CD79A CD79B IGHM IGLL1
10 B cell differentiation GO:0030183 9.1 BLNK CD40LG CD79A CD79B PIK3R1 TCF3

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 9.16 BLNK PIK3R1
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 CD19 PIK3R1 SRC
3 SH3/SH2 adaptor activity GO:0005070 8.8 BLNK SH2D1A SRC
4 protein binding GO:0005515 10.13 BLNK BTK CD19 CD40LG CD79A CD79B

Sources for Agammaglobulinemia

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
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