IGHM
MCID: AGM001
MIFTS: 67

Agammaglobulinemia (IGHM)

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

Aliases & Classifications for Agammaglobulinemia

MalaCards integrated aliases for Agammaglobulinemia:

Name: Agammaglobulinemia 12 73 58 29 54 6 44 15 39 70
Hypogammaglobulinemia 12 54 6 15 70
Mu Heavy Chain Deficiency 12
Mu-Heavy Chain Disease 58
Agammaglobulinemias 36
Mu-Chain Disease 70
Mu-Hcd 58
Ighm 12

Characteristics:

Orphanet epidemiological data:

58
mu-heavy chain disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 58  
Rare haematological diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:2583
KEGG 36 H00085
ICD9CM 34 279.00
MeSH 44 D000361
NCIt 50 C26931
SNOMED-CT 67 119250001 267512002
ICD10 32 D80.1
MESH via Orphanet 45 D000361
ICD10 via Orphanet 33 C88.2
UMLS via Orphanet 71 C0001768 C0242310
UMLS 70 C0001768 C0086438 C0242310

Summaries for Agammaglobulinemia

KEGG : 36 There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (a) consists of agammaglobulinaemias. Defects in early B cell development are characterized by the onset of recurrent bacterial infections in the first 5 years of life, profound hypogammaglobulinemia, markedly reduced or absent B cells in the peripheral circulation, and (in the bone marrow) a severe block in B cell differentiation before the production of surface immunoglobulin-positive B cells. Mutations in Btk, the gene responsible for X-linked agammaglobulinemia (XLA), account for approximately 85% of affected patients. Approximately half of the remaining patients have mutations in genes encoding components of the pre-B cell receptor (pre-BCR) or BCR, including mu heavy chain (IGHM); the signal transduction molecules Ig-alpha (CD79A) and Ig-beta (CD79B); and lambda 5 (IGLL1), which forms the surrogate light chain with Vpre-B. A small number of patients with defects in BLNK, a scaffold protein that assembles signal transduction molecules activated by cross-linking of the BCR, have been reported.

MalaCards based summary : Agammaglobulinemia, also known as hypogammaglobulinemia, is related to agammaglobulinemia 1, autosomal recessive and agammaglobulinemia 4, autosomal recessive. An important gene associated with Agammaglobulinemia is SYK (Spleen Associated Tyrosine Kinase), and among its related pathways/superpathways are Primary immunodeficiency and Innate Immune System. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone marrow and t cells, and related phenotypes are splenomegaly and abnormality of bone marrow cell morphology

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

Wikipedia : 73 Hypogammaglobulinemia is a problem with the immune system in which not enough gamma globulins are... 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 717)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 1, autosomal recessive 33.0 IGHM IGH BTK
2 agammaglobulinemia 4, autosomal recessive 32.6 SYK CD79B BLNK
3 agammaglobulinemia, non-bruton type 32.2 TCF3 PIK3R1 LRRC8A IGLL1 IGHM CD79B
4 mu chain disease 31.9 IGLL1 IGHM
5 common variable immunodeficiency 31.8 TNFRSF13B SH2D1A CD79A CD40LG BTK
6 immunoglobulin g deficiency 31.8 CD79A CD40LG
7 agammaglobulinemia, x-linked 31.7 TNFRSF13B TEC SYK SRC LRRC8A IGLL1
8 immunodeficiency 14 31.5 SH2D1A PIK3R1 BTK
9 primary agammaglobulinemia 31.5 TNFRSF13B SYK SEC61A1
10 plasmacytoma 30.2 IGH CD79B CD79A
11 tetanus 30.2 SRC CD79A CD40LG
12 congenital hypogammaglobulinemia 30.1 IGLL1 BTK BLNK
13 lambda 5 deficiency 30.1 IGLL1 CD79B BLNK
14 immunodeficiency with hyper-igm, type 1 30.1 TNFRSF13B CD79A CD40LG BTK
15 b cell deficiency 29.9 TNFRSF13B TEC SH2D1A IGLL1 CD40LG BTK
16 cryoglobulinemia, familial mixed 29.9 IGHM CD40LG
17 dysgammaglobulinemia 29.9 TNFRSF13B SH2D1A CD79A
18 immune deficiency disease 29.9 TNFRSF13B TEC SYK SH2D1A CD79A CD40LG
19 waldenstroem's macroglobulinemia 29.9 IGHM CD40LG BTK
20 macroglobulinemia 29.9 TNFRSF13B SYK CD40LG BTK BLNK
21 diffuse large b-cell lymphoma 29.8 SYK CD79B CD79A BTK
22 lymphoma, mucosa-associated lymphoid type 29.8 IGH CD79B CD79A
23 immunoglobulin alpha deficiency 29.8 TNFRSF13B CD79A CD40LG
24 leukemia, acute lymphoblastic 29.7 TCF3 SYK SRC IGH BTK BLNK
25 immunoglobulin a deficiency 1 29.7 TNFRSF13B CD79A CD40LG BTK
26 lymphoplasmacytic lymphoma 29.7 IGH CD79B CD79A CD40LG BTK
27 cd40 ligand deficiency 29.6 TNFRSF13B SH2D1A CD40LG BTK
28 wiskott-aldrich syndrome 29.6 SYK SRC PIK3R1 BTK
29 mantle cell lymphoma 29.6 SYK IGH CD40LG BTK
30 leukemia, chronic lymphocytic 29.1 TNFRSF13B SYK IGHM IGH IBTK CD79B
31 lymphoma, non-hodgkin, familial 28.9 TNFRSF13B SYK SH2D1A IGH CD79B CD79A
32 whim syndrome 11.6
33 agammaglobulinemia 5, autosomal dominant 11.5
34 isolated growth hormone deficiency, type iii, with agammaglobulinemia 11.5
35 agammaglobulinemia 6, autosomal recessive 11.5
36 agammaglobulinemia 2, autosomal recessive 11.5
37 agammaglobulinemia 3, autosomal recessive 11.5
38 agammaglobulinemia 7, autosomal recessive 11.5
39 osteopetrosis, autosomal recessive 7 11.5
40 agammaglobulinemia 8, autosomal dominant 11.5
41 immunodeficiency 61 11.5
42 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 11.4
43 immunodeficiency, common variable, 2 11.2
44 pulmonary alveolar proteinosis with hypogammaglobulinemia 11.2
45 agammaglobulinemia, microcephaly, and severe dermatitis 11.2
46 microcephaly with chemotactic defect and transient hypogammaglobulinemia 11.2
47 good syndrome 11.2
48 lymphoproliferative syndrome 2 11.1
49 isolated growth hormone deficiency type iii 11.1
50 isolated growth hormone deficiency 11.1

Graphical network of the top 20 diseases related to Agammaglobulinemia:



Diseases related to Agammaglobulinemia

Symptoms & Phenotypes for Agammaglobulinemia

Human phenotypes related to Agammaglobulinemia:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 abnormality of bone marrow cell morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005561
3 abnormal b cell count 58 31 hallmark (90%) Very frequent (99-80%) HP:0010975
4 increased circulating antibody level 31 hallmark (90%) HP:0010702
5 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
6 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
7 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
8 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
9 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
10 bence jones proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0030156
11 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
12 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
13 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
14 increased antibody level in blood 58 Very frequent (99-80%)

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.78 SYK
2 Decreased viability GR00055-A-2 9.78 SYK
3 Decreased viability GR00154-A 9.78 BTK
4 Decreased viability GR00221-A-1 9.78 BTK PIK3R1 SYK
5 Decreased viability GR00221-A-2 9.78 BTK SYK
6 Decreased viability GR00221-A-3 9.78 BTK IBTK PIK3R1 SYK
7 Decreased viability GR00221-A-4 9.78 BTK
8 Decreased viability GR00249-S 9.78 SYK
9 Decreased viability GR00301-A 9.78 BTK IBTK SRC TEC
10 Decreased viability GR00386-A-1 9.78 SYK
11 Decreased viability GR00402-S-2 9.78 SYK TEC

MGI Mouse Phenotypes related to Agammaglobulinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 BLNK BTK CD40LG CD79A LRRC8A PIK3R1
2 hematopoietic system MP:0005397 10 BLNK BTK CD40LG CD79A CD79B IBTK
3 immune system MP:0005387 9.8 BLNK BTK CD40LG CD79A CD79B IBTK
4 neoplasm MP:0002006 9.17 BLNK BTK CD79A PIK3R1 SRC TCF3

Drugs & Therapeutics for Agammaglobulinemia

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3 Immunoglobulins, Intravenous Phase 4
4 Immunologic Factors Phase 4
5 gamma-Globulins Phase 4
6 Rho(D) Immune Globulin Phase 4
7 Immunoglobulin G Phase 4
8
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
9 Anti-Infective Agents Phase 2, Phase 3
10 Antiviral Agents Phase 2, Phase 3
11 Anti-Retroviral Agents Phase 2, Phase 3
12 Plerixafor octahydrochloride Phase 2, Phase 3
13 Anti-HIV Agents Phase 2, Phase 3
14 Pharmaceutical Solutions Phase 3
15 Liver Extracts Phase 3
16
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
17
ofatumumab Approved Phase 2 679818-59-8 6918251
18
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
alemtuzumab Approved, Investigational Phase 2 216503-57-0
21
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
22
Lenalidomide Approved Phase 2 191732-72-6 216326
23 interferons Phase 2
24 Interferon alpha-2 Phase 2
25 Interferon-alpha Phase 2
26 Antibodies, Monoclonal Phase 2
27 Immunosuppressive Agents Phase 2
28 Alkylating Agents Phase 2
29 Antineoplastic Agents, Immunological Phase 2
30 Vaccines Phase 2
31 Angiogenesis Inhibitors Phase 2
32 Adjuvants, Immunologic Phase 2
33 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
34
tannic acid Approved 1401-55-4
35
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
36
rituximab Approved 174722-31-7 10201696
37
Methylprednisolone Approved, Vet_approved 83-43-2 6741
38
Prednisolone Approved, Vet_approved 50-24-8 5755
39
Etoposide Approved 33419-42-0 36462
40
Methylprednisolone hemisuccinate Approved 2921-57-5
41
Methotrexate Approved 1959-05-2, 59-05-2 126941
42
Levoleucovorin Approved, Investigational 68538-85-2 149436
43
Prednisolone phosphate Approved, Vet_approved 302-25-0
44
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
45
Busulfan Approved, Investigational 55-98-1 2478
46
Prednisone Approved, Vet_approved 53-03-2 5865
47
Clotrimazole Approved, Vet_approved 23593-75-1 2812
48
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
49
Prednisolone acetate Approved, Vet_approved 52-21-1
50
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
2 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
3 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
4 An Open Study to Evaluate the Safety and Efficacy of IVIG-F10 in Patients With Primary Immunodeficiency Diseases (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
5 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
6 Does Replacement With CMVIG in Hypogammaglobulinemic Patients Decrease the Rate of Opportunistic Infections and Chronic Rejection? Completed NCT00137748 Phase 2, Phase 3 CMV-Ig
7 Kinetics, Efficacy and Safety of IVIG-L (Human Normal Intravenous Immunoglobulin for Intravenous Use) in Hypogammaglobulinemia Patients Completed NCT00138697 Phase 2, Phase 3 IVIG-L
8 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
9 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
10 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
11 A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients With WHIM Syndrome. Completed NCT02231879 Phase 2, Phase 3 Plerixafor;G-CSF
12 Multicenter, Open-label, Historically Controlled, Phase III Study to Assess the Efficacy, Tolerability, Safety and Pharmacokinetics of Kedrion IVIG 10% in Adult and Pediatric Subjects With Primary Immunodeficiency (PID). Completed NCT01581593 Phase 3
13 A Phase III, Multicenter, Open-label, Randomized, Two-Period, Crossover Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
14 A Multicentre Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency Completed NCT00542997 Phase 3
15 Effects of Plasma Exchange With Human Serum Albumin 5% (PE-A 5%) on Short-term Survival in Subjects With "Acute-On-Chronic Liver Failure" (ACLF) at High Risk of Hospital Mortality Recruiting NCT03702920 Phase 3
16 Double-blind, Randomized, Placebo-controlled, Prospective Phase III Study Evaluating Efficacy and Safety of Panzyga in Primary Infection Prophylaxis in Patients With Chronic Lymphocytic Leukemia ("PRO-SID" Study) Recruiting NCT04502030 Phase 3
17 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial to Evaluate the Efficacy and Safety of Oral BTK Inhibitor PRN1008 in Moderate to Severe Pemphigus Active, not recruiting NCT03762265 Phase 3 PRN1008 Oral Tablet;Placebo Oral Tablet
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 Prospective Open-Label Study of Pharmacokinetics, Efficacy and Safety of Immune Globulin Intravenous (Human), 10% TVR Solution in Patients With Hypo- or Agammaglobulinemia Completed NCT00161993 Phase 2 Immune Globulin Intravenous (Human), 10% TVR (Triple Virally Reduced) Solution;Gammagard S/D (Solvent/Detergent)
20 IVIG for Acquired Immunodeficiency in Lung Transplant Patients Completed NCT00115778 Phase 2 IVIG
21 Combination of Lenalidomide and Ofatumumab in Patients With Previously Treated Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma (CLL/SLL) Completed NCT01002755 Phase 2 Lenalidomide
22 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
23 A Study of Immune-adjuvant Effect of Lenalidomide in Patients With Chronic Lymphocytic Leukemia and Hypogammaglobulinemia and Impaired Response to Vaccinations - RV-CL-CLL-PI-002544 Terminated NCT01924169 Phase 2 Lenalidomide
24 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
25 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
26 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
27 A Pilot Study to Assess Tolerability of Subcutaneous Immunoglobulin Treatment (Hizentra) in Patients Undergoing Allogeneic Hematopoietic Cell Transplantation Completed NCT03401268 subcutaneous immunoglobulin
28 Intravenous Immunoglobulin for Early Prevention of Cardiopulmonary Bypass Induced Hypogammaglobulinemia in Infants and Neonates Completed NCT02043379 IVIG
29 Personalized Immunotherapeutic for Antibiotic-resistant Infection Completed NCT02508584 Early Phase 1
30 Serum IgG Antibody to Streptococcus Pneumoniae, Haemophilus Influenzae Type b and Tetanus Toxoid in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Infusions Completed NCT00661401
31 Hypogammaglobulinemia and Immunization Responses to Measles in Rituximab-treated Multiple Sclerosis Patients Recruiting NCT04283747
32 Antibodies Production After Covid-19 Vaccination Among Patients With Medical History of Cancer and Anti-CD-20 Treatment Recruiting NCT04779996
33 Analysis of Medical Therapy and History as Risks of Immunodeficiency in Multiple Sclerosis Patients Not yet recruiting NCT04447937
34 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
35 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399
36 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:

40
B Cells, Bone Marrow, T Cells, Bone, Lung, Liver, Thymus

Publications for Agammaglobulinemia

Articles related to Agammaglobulinemia:

(show top 50) (show all 4529)
# Title Authors PMID Year
1
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). 6 61
28782633 2018
2
Early arrest in B cell development in transgenic mice that express the E41K Bruton's tyrosine kinase mutant under the control of the CD19 promoter region. 61 6
10352268 1999
3
IgA and IgG hypogammaglobulinemia in Waldenström's macroglobulinemia. 61 54
19903677 2010
4
The outcome of patients with unclassified hypogammaglobulinemia in early childhood. 61 54
19196447 2009
5
Massive empyema associated with transient hypogammaglobulinemia of infancy and IgA deficiency. 54 61
19399287 2009
6
Hematopoietic engraftment of XLA bone marrow CD34(+) cells in NOG/SCID mice. 61 54
19235603 2009
7
Transcriptional regulatory defects in the first intron of Bruton's tyrosine kinase. 54 61
19067895 2008
8
Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. 61 54
18780950 2008
9
Small neutralizing molecules to inhibit actions of the chemokine CXCL12. 54 61
18556651 2008
10
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome. 61 54
18436740 2008
11
Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia. 61 54
17765309 2008
12
Asthma and allergic rhinitis in a patient with BTK deficiency. 61 54
18714539 2008
13
Alterations in humoral immunity in relatives of patients with common variable immunodeficiency. 54 61
18714534 2008
14
Mutations of the Igbeta gene cause agammaglobulinemia in man. 54 61
17709424 2007
15
[Cellular and humoral immunodeficiency in children with vaccine-associated paralytic poliomyelitis]. 54 61
17297880 2006
16
Hypogammaglobulinemia and exacerbated CD8 T-cell-mediated immunopathology in SAP-deficient mice with chronic LCMV infection mimics human XLP disease. 54 61
16788096 2006
17
X-linked agammaglobulinemia: report on a United States registry of 201 patients. 61 54
16862044 2006
18
The expression of CD40 on monocytes of children with primary humoral immunodeficiencies. 54 61
16641210 2006
19
X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency. 54 61
16328363 2006
20
A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. 54 61
16159644 2005
21
[Gene diagnosis of X-linked agammaglobulinemia]. 54 61
16053733 2005
22
Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells. 61 54
15761493 2005
23
Autosomal-dominant primary immunodeficiencies. 61 54
15604887 2005
24
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. 54 61
15026312 2004
25
The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. 61 54
15100680 2004
26
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia. 54 61
14974089 2004
27
Loss of circulating CD27+ memory B cells and CCR4+ T cells occurring in association with elevated EBV loads in XLP patients surviving primary EBV infection. 54 61
14604960 2004
28
Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation. 61 54
12958074 2004
29
Gene symbol: btk. Disease: Bruton agammaglobulinemia. 54 61
12974276 2003
30
Indications for the immunological evaluation of patients with meningitis. 61 54
12522751 2003
31
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. 54 61
12204007 2002
32
Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia. 61 54
12148599 2002
33
G Protein beta gamma subunits act on the catalytic domain to stimulate Bruton's agammaglobulinemia tyrosine kinase. 61 54
11698416 2002
34
Spontaneous resolution of profound hypogammaglobulinemia. 61 54
11811863 2001
35
Role of the PHTH module in protein substrate recognition by Bruton's agammaglobulinemia tyrosine kinase. 54 61
11577078 2001
36
Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia. 54 61
11668622 2001
37
Variations in the human phospholipase Cgamma2 gene in patients with B-cell defects of unknown etiology. 54 61
11685467 2001
38
SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. 54 61
11493483 2001
39
Molecular analysis of Bruton's tyrosine kinase gene in Spain. 54 61
11438999 2001
40
Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA). 54 61
11102316 2000
41
The cellular phenotype conditions Btk for cell survival or apoptosis signaling. 54 61
11213806 2000
42
Analysis of the genetic alterations in a case of juvenile multiple colon carcinoma with hypogammaglobulinemia. 54 61
11034248 2000
43
X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group. 61 54
10859027 2000
44
Mutations in Igalpha (CD79a) result in a complete block in B-cell development. 61 54
10525050 1999
45
Synergistic activation of the human Btk promoter by transcription factors Sp1/3 and PU.1. 54 61
10362515 1999
46
Effect of bacterial antigen lysate on IgG and IgA levels in children with recurrent infections and hypogammaglobulinemia. 61 54
10412680 1999
47
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 61 54
10220140 1999
48
The Tec family protein-tyrosine kinases: a subset of kinases for a subset of signalings. 61 54
10641436 1999
49
Plasma immunoglobulins in patients with severe ovarian hyperstimulation syndrome. 61 54
9935124 1999
50
[Cytokines in children with immunodeficiencies]. 61 54
10909468 1999

Variations for Agammaglobulinemia

ClinVar genetic disease variations for Agammaglobulinemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYK NM_003177.7(SYK):c.1649C>T (p.Ser550Phe) SNV Pathogenic 989386 GRCh37: 9:93650098-93650098
GRCh38: 9:90887816-90887816
2 SYK NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr) SNV Pathogenic 989389 GRCh37: 9:93650098-93650098
GRCh38: 9:90887816-90887816
3 SYK NM_003177.7(SYK):c.1024C>A (p.Pro342Thr) SNV Likely pathogenic 989387 GRCh37: 9:93636974-93636974
GRCh38: 9:90874692-90874692
4 BTK NM_000061.2(BTK):c.121G>A (p.Glu41Lys) SNV Likely pathogenic 376751 rs1057520045 GRCh37: X:100630152-100630152
GRCh38: X:101375164-101375164
5 SEC61A1 NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp) SNV Likely pathogenic 549498 rs1553721236 GRCh37: 3:127775585-127775585
GRCh38: 3:128056742-128056742
6 SYK NM_003177.7(SYK):c.1350G>A (p.Met450Ile) SNV Likely pathogenic 989237 GRCh37: 9:93640021-93640021
GRCh38: 9:90877739-90877739

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 V-set pre-B cell surrogate light chain 3 Blood - 6.37 0.000
4 CD79A CD79a molecule Blood - 6.11 0.000
5 OSBPL10 oxysterol binding protein like 10 Blood - 5.82 0.000
6 TNFRSF17 TNF receptor superfamily member 17 Blood - 5.79 0.000
7 CNTNAP2 contactin associated protein 2 Blood - 5.13 0.000
8 BLK BLK proto-oncogene, Src family tyrosine kinase Blood - 5.09 0.000
9 EBF1 EBF transcription 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 homeobox associating factor 1 Blood - 4.45 0.000
13 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 Blood - 4.37 0.000
14 TCL1A TCL1 family AKT coactivator A Blood - 4.26 0.000
15 SPIB Spi-B transcription factor Blood - 4.15 0.000
16 KLHL14 kelch like family member 14 Blood - 4.08 0.000
17 TNFRSF13B TNF receptor superfamily member 13B Blood - 4.07 0.000
18 CXCR5 C-X-C motif chemokine receptor 5 Blood - 4.03 0.000
19 CD79B CD79b molecule 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 receptor II Blood - 3.79 0.000
25 HLA-DOB major histocompatibility complex, class II, DO beta Blood - 3.66 0.000
26 LAMA5 laminin subunit alpha 5 Blood - 3.40 0.000
27 MS4A1 membrane spanning 4-domains A1 Blood - 3.39 0.000
28 GLDC glycine decarboxylase Blood - 3.28 0.000
29 FAM30A family with sequence similarity 30 member A Blood - 3.21 0.000
30 KCNG1 potassium voltage-gated channel 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 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 TNFRSF13B TEC SYK SRC SH2D1A SEC61A1
2
Show member pathways
13.37 SYK SRC SH2D1A SEC61A1 PIK3R1 CD79B
3
Show member pathways
13.35 TNFRSF13B TEC SYK SRC PIK3R1 CD40LG
4
Show member pathways
13.3 TNFRSF13B TEC SYK SRC PIK3R1 CD40LG
5
Show member pathways
13.16 TEC SYK SRC PIK3R1 CD79B CD79A
6
Show member pathways
13.03 SYK SRC PIK3R1 CD79B CD79A BTK
7
Show member pathways
12.77 SYK SRC PIK3R1 IGHM IGH CD79B
8
Show member pathways
12.64 SYK SRC PIK3R1 CD79B CD79A BTK
9 12.48 TEC TCF3 SYK SH2D1A CD79A CD40LG
10
Show member pathways
12.47 SYK PIK3R1 IGHM IGH CD79B CD79A
11
Show member pathways
12.44 SYK SH2D1A PIK3R1 IGH
12
Show member pathways
12.36 TNFRSF13B SYK SRC PIK3R1
13
Show member pathways
12.34 SYK SRC PIK3R1 IGHM IGH CD79B
14
Show member pathways
12.33 TEC SYK PIK3R1 CD40LG
15
Show member pathways
12.32 TEC SYK PIK3R1 IBTK CD79B CD79A
16
Show member pathways
12.24 SYK SRC PIK3R1 BTK
17
Show member pathways
12.24 SYK SRC PIK3R1 BTK
18
Show member pathways
12.18 SYK SRC PIK3R1 BTK BLNK
19
Show member pathways
12.13 TEC SYK SRC PIK3R1 BTK
20 12.08 TEC SYK SRC SH2D1A BTK
21
Show member pathways
12.02 SYK PIK3R1 CD79B CD79A BTK BLNK
22 12 SYK SRC PIK3R1 BTK
23 11.99 TEC SRC PIK3R1 BTK
24 11.98 TEC SYK PIK3R1 BTK BLNK
25 11.9 SYK CD40LG BTK BLNK
26 11.89 TCF3 SRC PIK3R1
27
Show member pathways
11.86 TEC SRC PIK3R1 BTK
28
Show member pathways
11.56 SYK SRC PIK3R1
29
Show member pathways
11.53 TEC SYK PIK3R1 CD79B CD79A BTK
30 11.47 TEC SRC BTK
31 11.4 SRC PIK3R1 BTK
32 10.99 SYK PIK3R1 BLNK
33 10.95 SRC PIK3R1
34 10.93 SRC PIK3R1
35 10.9 SRC PIK3R1
36 10.86 SYK SRC PIK3R1
37 10.68 TNFRSF13B IGLL1 CD79A CD40LG BTK BLNK
38 10.64 SRC PIK3R1

GO Terms for Agammaglobulinemia

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.06 TNFRSF13B TEC SYK SRC SEC61A1 PIK3R1
2 external side of plasma membrane GO:0009897 9.35 IGLL1 IGHM CD79B CD79A CD40LG
3 B cell receptor complex GO:0019815 8.8 SYK CD79B CD79A

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.98 TEC SYK SRC PIK3R1 BTK
2 innate immune response GO:0045087 9.97 SYK SRC SH2D1A IGLL1 IGHM BTK
3 intracellular signal transduction GO:0035556 9.96 TEC SYK SRC BTK BLNK
4 immune system process GO:0002376 9.91 TNFRSF13B TEC SYK SRC SH2D1A IGHM
5 cell surface receptor signaling pathway GO:0007166 9.89 TNFRSF13B SYK CD79B CD79A
6 leukocyte migration GO:0050900 9.85 SRC PIK3R1 IGLL1 IGHM
7 Fc-epsilon receptor signaling pathway GO:0038095 9.83 TEC SYK PIK3R1 BTK
8 peptidyl-tyrosine phosphorylation GO:0018108 9.76 TEC SYK SRC BTK
9 adaptive immune response GO:0002250 9.76 TNFRSF13B TEC SYK SH2D1A IGHM CD79B
10 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.75 TEC SYK SRC
11 T cell costimulation GO:0031295 9.71 SRC PIK3R1 CD40LG
12 platelet activation GO:0030168 9.67 SYK SRC PIK3R1 CD40LG
13 integrin-mediated signaling pathway GO:0007229 9.62 TEC SYK SRC CD40LG
14 B cell activation GO:0042113 9.61 CD79A BTK BLNK
15 negative regulation of B cell proliferation GO:0030889 9.6 TNFRSF13B BTK
16 peptidyl-tyrosine autophosphorylation GO:0038083 9.58 TEC SYK SRC
17 positive regulation of B cell differentiation GO:0045579 9.57 SYK BTK
18 regulation of platelet activation GO:0010543 9.51 TEC SYK
19 cellular response to molecule of fungal origin GO:0071226 9.48 SYK BTK
20 B cell differentiation GO:0030183 9.43 TCF3 PIK3R1 CD79B CD79A CD40LG BLNK
21 B cell receptor signaling pathway GO:0050853 9.23 TEC SYK IGLL1 IGHM CD79B CD79A

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

# Name GO ID Score Top Affiliating Genes
1 SH2 domain binding GO:0042169 9.33 SYK SRC BLNK
2 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 9.26 PIK3R1 BLNK
3 protein tyrosine kinase activity GO:0004713 9.26 TEC SYK SRC BTK
4 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.92 TEC SYK SRC BTK

Sources for Agammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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