IGHM
MCID: AGM001
MIFTS: 71

Agammaglobulinemia (IGHM)

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

Aliases & Classifications for Agammaglobulinemia

MalaCards integrated aliases for Agammaglobulinemia:

Name: Agammaglobulinemia 12 76 29 55 6 44 15 40 73
Hypogammaglobulinemia 12 55 15 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:



External Ids:

Disease Ontology 12 DOID:2583
ICD10 33 D80.1
ICD9CM 35 279.00
MeSH 44 D000361
NCIt 50 C26931
SNOMED-CT 68 81282009
Orphanet 59 ORPHA100024
UMLS via Orphanet 74 C0242310
ICD10 via Orphanet 34 C88.2
KEGG 37 H00085

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 Immunologic Factors and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone, and related phenotypes are splenomegaly and hepatomegaly

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 387)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 1, autosomal recessive 33.9 BTK IGHM
2 agammaglobulinemia, x-linked 33.5 AGMX2 BTK CD79A IGHM ITK SRC
3 congenital hypogammaglobulinemia 33.0 BLNK BTK CD19 CD79A IGLL1
4 agammaglobulinemia, non-bruton type 32.9 BLNK BTK CD79A CD79B IGHM IGLL1
5 immunoglobulin a deficiency 1 32.3 BTK CD79A
6 immunodeficiency, common variable, 2 32.2 CD19 CR2
7 mohr-tranebjaerg syndrome 31.8 BTK TIMM8A
8 common variable immunodeficiency 31.8 BTK CD19 CD79A CR2
9 immunodeficiency with hyper-igm, type 1 29.6 BTK CD79A
10 transient hypogammaglobulinemia of infancy 29.4 BTK CD19 CR2
11 b cell deficiency 29.3 BTK CD19 CR2 IGLL1
12 leukemia, chronic lymphocytic 29.1 CD19 CD79B CR2 IGHM
13 agammaglobulinemia 6, autosomal recessive 12.4
14 agammaglobulinemia 2, autosomal recessive 12.4
15 agammaglobulinemia 3, autosomal recessive 12.4
16 agammaglobulinemia 4, autosomal recessive 12.4
17 agammaglobulinemia 5, autosomal dominant 12.4
18 agammaglobulinemia 7, autosomal recessive 12.4
19 pulmonary alveolar proteinosis with hypogammaglobulinemia 12.3
20 agammaglobulinemia 8, autosomal dominant 12.3
21 isolated growth hormone deficiency, type iii, with agammaglobulinemia 12.3
22 whim syndrome 12.1
23 agammaglobulinemia, x-linked, type 2 12.1
24 primary agammaglobulinemia 12.1
25 agammaglobulinemia, microcephaly, and severe dermatitis 12.1
26 microcephaly with chemotactic defect and transient hypogammaglobulinemia 12.0
27 retinal telangiectasia and hypogammaglobulinemia 12.0
28 osteopetrosis, autosomal recessive 7 12.0
29 x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 12.0
30 achondroplasia and swiss type agammaglobulinemia 12.0
31 isolated agammaglobulinemia 11.9
32 frenkel russe syndrome 11.3
33 waldenstrom macroglobulinemia 11.2
34 rabies 11.2
35 primary central nervous system lymphoma 11.2
36 lymphoproliferative syndrome 2 11.2
37 autoimmune lymphoproliferative syndrome, type v 11.2
38 immunodeficiency 15 11.1
39 cryoglobulinemia, familial mixed 11.1
40 mu chain disease 11.1
41 cold agglutinin disease 11.1
42 isolated growth hormone deficiency type iii 11.1
43 say barber miller syndrome 11.1
44 hepatic venoocclusive disease with immunodeficiency 11.1
45 lymphoproliferative syndrome, x-linked, 2 11.1
46 immunodeficiency 47 11.0
47 immunodeficiency 50 11.0
48 immunodeficiency, common variable, 1 11.0
49 lymphoproliferative syndrome 1 11.0
50 immunodeficiency 11 11.0

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 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
3 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
4 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
5 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
6 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
7 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
8 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
9 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.93 BTK
2 Decreased viability GR00221-A-2 9.93 BTK
3 Decreased viability GR00221-A-3 9.93 BTK IBTK
4 Decreased viability GR00221-A-4 9.93 BTK ITK
5 Decreased viability GR00301-A 9.93 BTK IBTK ITK SRC TEC
6 Decreased viability GR00342-S-1 9.93 ITK
7 Decreased viability GR00342-S-2 9.93 ITK
8 Decreased viability GR00342-S-3 9.93 ITK
9 Decreased viability GR00402-S-2 9.93 BTK IBTK ITK SRC TEC
10 Decreased viability in HMC1.1 cells GR00105-A-0 8.62 ITK SRC

MGI Mouse Phenotypes related to Agammaglobulinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 BLNK BTK CD19 CD79A CD79B CR2
2 immune system MP:0005387 9.77 BLNK BTK CD19 CD79A CD79B CR2
3 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 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
2 Antibodies Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
3 Immunoglobulins Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
4 gamma-Globulins Phase 4,Phase 3,Phase 2,Not Applicable
5 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2,Not Applicable
6 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2,Not Applicable
7 Immunoglobulin G Phase 4,Phase 3,Phase 2
8
Adenosine Approved, Investigational Phase 3,Phase 1,Phase 2 58-61-7 60961
9
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
10
Ofatumumab Approved Phase 2 679818-59-8 6918251
11
Lenalidomide Approved Phase 2 191732-72-6 216326
12
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
13
Melphalan Approved Phase 2 148-82-3 4053 460612
14
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16 Pharmaceutical Solutions Phase 2
17 interferons Phase 2
18 Anti-Infective Agents Phase 2,Phase 1,Early Phase 1,Not Applicable
19 Interferon-alpha Phase 2
20 Antiviral Agents Phase 2,Phase 1
21 Anti-Bacterial Agents Phase 2,Phase 1,Early Phase 1
22 Anti-Arrhythmia Agents Phase 1, Phase 2
23 Analgesics Phase 1, Phase 2
24 Neurotransmitter Agents Phase 1, Phase 2
25 Peripheral Nervous System Agents Phase 1, Phase 2,Not Applicable
26 Vasodilator Agents Phase 1, Phase 2
27 Immunosuppressive Agents Phase 2,Phase 1,Not Applicable
28 Angiogenesis Inhibitors Phase 2
29 Antibodies, Monoclonal Phase 2
30 Angiogenesis Modulating Agents Phase 2
31 Antimetabolites Phase 2,Not Applicable
32 Antimetabolites, Antineoplastic Phase 2,Not Applicable
33 Alkylating Agents Phase 2,Not Applicable
34 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
35 Adjuvants, Immunologic Phase 2
36 Vaccines Phase 2,Not Applicable
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
38
Mycophenolic acid Approved Phase 1 24280-93-1 446541
39
Miconazole Approved, Investigational, Vet_approved Phase 1,Not Applicable 22916-47-8 4189
40 Antibiotics, Antitubercular Phase 1,Early Phase 1
41 Anti-HIV Agents Phase 1
42 JM 3100 Phase 1
43 Anti-Retroviral Agents Phase 1
44 Dermatologic Agents Phase 1,Not Applicable
45 Calcineurin Inhibitors Phase 1,Not Applicable
46 Antirheumatic Agents Phase 1,Not Applicable
47 Antifungal Agents Phase 1,Not Applicable
48 Cyclosporins Phase 1,Not Applicable
49 Antitubercular Agents Phase 1
50
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337

Interventional clinical trials:

(show all 38)
# 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 A Study of PRN1008 in Patients With Pemphigus Recruiting NCT03762265 Phase 3 PRN1008 Oral Tablet;Placebo Oral Tablet
16 EZN-2279 in Patients With ADA-SCID Active, not recruiting NCT01420627 Phase 3
17 Intravenous Immunoglobulin (IVIG) in Lung Transplantation Unknown status NCT00115778 Phase 2 Intravenous immunoglobulin
18 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
19 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)
20 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
21 Lenalidomide and Ofatumumab in Treating Participants With Previously Treated Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma Completed NCT01002755 Phase 2 Lenalidomide
22 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
23 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Active, not recruiting NCT01380990 Phase 1, Phase 2
24 Lenalidomide as Immune Adjuvant in Patient's With Chronic Lymphocytic Leukemia (CLL) Terminated NCT01924169 Phase 2 Lenalidomide
25 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
26 A Phase I Study of Mozobil in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1 Mozobil (TM)
27 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
28 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
29 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
30 Personalized Immunotherapeutic for Antibiotic-resistant Infection Unknown status NCT02508584 Early Phase 1
31 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401 Not Applicable
32 Post-bypass Prophylactic IVIG in Infants and Neonates Completed NCT02043379 Not Applicable IVIG
33 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
34 Subcutaneous Ig in Allogeneic Stem Cell Transplant Recipients Recruiting NCT03401268 Not Applicable subcutaneous immunoglobulin
35 Investigation of Immune Disorders and Deficiencies Active, not recruiting NCT01981785
36 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399 Not Applicable
37 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
38 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, T Cells, Bone, Bone Marrow, Lung, Skin, Myeloid

Publications for Agammaglobulinemia

Articles related to Agammaglobulinemia:

(show top 50) (show all 1301)
# Title Authors Year
1
Secondary Hypogammaglobulinemia: An Increasingly Recognized Complication of Treatment with Immunomodulators and After Solid Organ Transplantation. ( 30466771 )
2019
2
Emergence of Carbapenem Non-susceptible Campylobacter coli after Long-term Treatment against Recurrent Bacteremia in a Patient with X-linked Agammaglobulinemia. ( 29491300 )
2018
3
Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia. ( 29543351 )
2018
4
X-linked agammaglobulinemia complicated with pulmonary aspergillosis. ( 29356289 )
2018
5
Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1. ( 29178053 )
2018
6
<i>Helicobacter cinaedi</i> bacteremia mimicking eosinophilic fasciitis in a patient with X-linked agammaglobulinemia. ( 29693060 )
2018
7
An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers. ( 29307603 )
2018
8
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains. ( 29202590 )
2018
9
Clinical and Genetic Features of the Patients with X-Linked Agammaglobulinemia from Turkey: Single Center Experience. ( 29424453 )
2018
10
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
11
Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan. ( 30063982 )
2018
12
Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene. ( 30072168 )
2018
13
Long-term follow-up of an activated PI3K-δ syndrome 2 in patient presenting with an agammaglobulinemia phenotype. ( 30081089 )
2018
14
Type I and III Interferon Productions Are Impaired in X-Linked Agammaglobulinemia Patients Toward Poliovirus but Not Influenza Virus. ( 30147693 )
2018
15
Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy. ( 30191508 )
2018
16
Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia. ( 30311057 )
2018
17
Oral direct-acting antiviral therapy for hepatitis C virus infection in X-linked agammaglobulinemia. ( 30339854 )
2018
18
Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia. ( 30430354 )
2018
19
Disseminated Spiroplasma apis Infection in Patient with Agammaglobulinemia, France. ( 30457541 )
2018
20
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. ( 30243016 )
2018
21
Management of hypogammaglobulinemia and recurrent infections in a chronic lymphocytic leukemia patient receiving ibrutinib. ( 29174859 )
2018
22
Secondary Hypogammaglobulinemia After Rituximab for Neuromyelitis Optica: A Case Report. ( 29752554 )
2018
23
Rituximab-induced hypogammaglobulinemia in patients with neuromyelitis optica spectrum disorders. ( 30258855 )
2018
24
Hypogammaglobulinemia Observed One Year after Rituximab Treatment for Idiopathic Thrombocytopenic Purpura. ( 29755528 )
2018
25
B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy. ( 30152873 )
2018
26
Hypogammaglobulinemia due to CAR T-cell therapy. ( 29230962 )
2018
27
Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features. ( 30511102 )
2018
28
Anemia and hypogammaglobulinemia caused by Ménétrier's disease. ( 29027113 )
2018
29
B cell aplasia and hypogammaglobulinemia associated with levetiracetam. ( 29313528 )
2018
30
Prevalence of Hypogammaglobulinemia in Adult Invasive Pneumococcal Disease. ( 29401274 )
2018
31
Predictors of hypogammaglobulinemia during rituximab maintenance therapy in rheumatoid arthritis: A 12-year longitudinal multi-center study. ( 29548542 )
2018
32
The Significance of B-cell Subsets in Patients with Unclassified Hypogammaglobulinemia and Association with Intravenous Immunoglobulin Replacement Requirement. ( 29549228 )
2018
33
Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. ( 29569510 )
2018
34
Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management. ( 29709555 )
2018
35
A Prospective Observational Study of Hypogammaglobulinemia in the First Year After Lung Transplantation. ( 30255132 )
2018
36
Hypogammaglobulinemia with decreased class-switched B-cells and dysregulated T-follicular-helper cells in IPEX syndrome. ( 30368009 )
2018
37
Mild Hypogammaglobulinemia Can Be a Serious Condition. ( 30374358 )
2018
38
Detrimental Association of Hypogammaglobulinemia With Chronic Lung Allograft Dysfunction and Death Is Not Mitigated by On-Demand Immunoglobulin G Replacement After Lung Transplantation. ( 30537897 )
2018
39
Bruton Agammaglobulinemia ( 28846295 )
2017
40
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
41
Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis. ( 28807838 )
2017
42
Helicobacter bilis-Associated Suppurative Cholangitis in a Patient with X-Linked Agammaglobulinemia. ( 28856582 )
2017
43
IVIG-triggered tubulointerstitial nephritis in X-linked agammaglobulinemia. ( 28707726 )
2017
44
X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan. ( 28304004 )
2017
45
A child with X-linked agammaglobulinemia and Kawasaki disease: an unusual association. ( 28365793 )
2017
46
Gastrointestinal Manifestations in X-linked Agammaglobulinemia. ( 28236219 )
2017
47
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
48
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia. ( 28705765 )
2017
49
The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement. ( 28422989 )
2017
50
Autosomal recessive agammaglobulinemia due to defect in I1 heavy chain caused by a novel mutation in the IGHM gene. ( 28769069 )
2017

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 GRCh38 Chromosome X, 101375164: 101375164
2 BTK NM_000061.2(BTK): c.121G> A (p.Glu41Lys) single nucleotide variant Likely pathogenic rs1057520045 GRCh37 Chromosome X, 100630152: 100630152

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 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 BLNK BTK CD19 CD79A CD79B ITK
2
Show member pathways
13.24 BTK CD19 CD79A CD79B ITK PIK3R1
3
Show member pathways
13.08 BLNK BTK CD19 CD79A CD79B CR2
4
Show member pathways
12.95 BLNK BTK CD79A CD79B ITK PIK3R1
5
Show member pathways
12.84 BTK CD79A CD79B IGHM PIK3R1 SRC
6
Show member pathways
12.59 BLNK BTK CD19 CD79A CD79B PIK3R1
7
Show member pathways
12.47 BLNK BTK CD79A CD79B IGHM ITK
8 12.38 BLNK BTK CD19 CD79A ITK TCF3
9 12.2 BLNK BTK CD19 CR2 PIK3R1
10
Show member pathways
12.19 BLNK BTK CD19 CD79A CD79B CR2
11
Show member pathways
12.18 BLNK BTK CD19 CD79A CD79B CR2
12
Show member pathways
12.14 BLNK BTK PIK3R1 SRC
13
Show member pathways
12.13 BLNK BTK ITK PIK3R1 SRC TEC
14
Show member pathways
12.09 BTK PIK3R1 SRC TEC
15 12.04 BTK ITK SRC TEC
16
Show member pathways
11.99 BLNK BTK CD79A CD79B PIK3R1
17 11.97 BLNK BTK PIK3R1 TEC
18 11.93 BTK PIK3R1 SRC TEC
19 11.92 BTK PIK3R1 SRC
20 11.88 CD19 CD79A CD79B
21 11.85 PIK3R1 SRC TCF3
22
Show member pathways
11.81 BTK PIK3R1 SRC TEC
23 11.44 BTK SRC TEC
24 11.37 BTK ITK PIK3R1 SRC
25
Show member pathways
11.25 BLNK BTK CD19 CD79A CD79B ITK
26 11.22 BLNK BTK CD19 CD79A IGLL1
27 10.93 PIK3R1 SRC
28 10.9 PIK3R1 SRC
29 10.9 BLNK PIK3R1
30 10.86 PIK3R1 SRC
31 10.77 PIK3R1 SRC
32 10.62 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 9.02 CD19 CD79A CD79B IGHM IGLL1
2 B cell receptor complex GO:0019815 8.96 CD79A CD79B
3 membrane GO:0016020 10.03 BLNK BTK CD19 CD79A CD79B CR2
4 plasma membrane GO:0005886 10 BLNK BTK CD19 CD79A CD79B CR2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.89 BTK ITK PIK3R1 SRC TEC
2 intracellular signal transduction GO:0035556 9.88 BLNK BTK ITK SRC TEC
3 adaptive immune response GO:0002250 9.8 BTK CD79A CD79B IGHM ITK TEC
4 leukocyte migration GO:0050900 9.76 IGHM IGLL1 PIK3R1 SRC
5 immune system process GO:0002376 9.76 BTK CD79A CD79B CR2 IGHM ITK
6 T cell receptor signaling pathway GO:0050852 9.73 BTK ITK PIK3R1 TEC
7 Fc-epsilon receptor signaling pathway GO:0038095 9.71 BTK ITK PIK3R1 TEC
8 phosphatidylinositol phosphorylation GO:0046854 9.69 CD19 PIK3R1 SRC
9 peptidyl-tyrosine autophosphorylation GO:0038083 9.56 BTK ITK SRC TEC
10 B cell activation GO:0042113 9.54 BLNK BTK CD79A
11 B cell differentiation GO:0030183 9.43 BLNK CD79A CD79B CR2 PIK3R1 TCF3
12 B cell receptor signaling pathway GO:0050853 9.23 BTK CD19 CD79A CD79B IGHM IGLL1

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

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.37 PIK3R1 SRC
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 CD19 PIK3R1 SRC
3 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 9.26 BLNK PIK3R1
4 protein tyrosine kinase activity GO:0004713 9.26 BTK ITK SRC TEC
5 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.92 BTK ITK SRC TEC
6 protein binding GO:0005515 10.2 BLNK BTK CD19 CD79A CD79B CR2

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
Content
Loading form....