IGHM
MCID: AGM001
MIFTS: 65

Agammaglobulinemia (IGHM)

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

Aliases & Classifications for Agammaglobulinemia

MalaCards integrated aliases for Agammaglobulinemia:

Name: Agammaglobulinemia 12 74 58 29 54 6 43 15 39 71
Hypogammaglobulinemia 12 15 71
Mu Heavy Chain Deficiency 12
Mu-Heavy Chain Disease 58
Agammaglobulinemias 36
Mu-Chain Disease 71
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 43 D000361
NCIt 49 C26931
SNOMED-CT 67 81282009
ICD10 32 D80.1
MESH via Orphanet 44 D000361
ICD10 via Orphanet 33 C88.2
UMLS via Orphanet 72 C0001768 C0242310
UMLS 71 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, non-bruton type 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 Vaccines and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone, 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 : 74 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 705)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, non-bruton type 33.7 TCF3 PIK3R1 LRRC8A IGLL1 IGHM CD79B
2 agammaglobulinemia, x-linked 33.1 TEC SRC PLEK ITK IGHM CD79A
3 immunodeficiency, common variable, 2 33.1 CR2 CD19
4 common variable immunodeficiency 32.7 CR2 CD79A CD40LG CD19 BTK
5 isolated growth hormone deficiency type iii 32.1 CD40LG BTK
6 immunoglobulin g deficiency 32.0 CD79A CD40LG
7 mu chain disease 31.9 IGLL1 IGHM CD40LG
8 heavy chain disease 30.8 CD79A CD40LG
9 immune deficiency disease 30.7 TEC CR2 CD79A CD40LG BTK
10 macroglobulinemia 30.4 CD40LG BTK BLNK
11 immunodeficiency with hyper-igm, type 1 30.1 CD79A CD40LG BTK
12 wiskott-aldrich syndrome 30.1 SRC PLEK PIK3R1 BTK
13 cryoglobulinemia 29.9 CR2 CD79A CD40LG
14 immunoglobulin a deficiency 1 29.9 CD79A CD40LG BTK
15 diffuse large b-cell lymphoma 29.9 CD79B CD79A CD19 BTK
16 transient hypogammaglobulinemia 29.8 CD40LG CD19 BTK
17 cryoglobulinemia, familial mixed 29.7 IGHM CD40LG
18 plasma cell neoplasm 29.7 CD79A CD40LG CD19
19 pfeiffer syndrome 29.7 CR2 CD40LG CD19
20 immunoglobulin alpha deficiency 29.7 CD79A CD40LG CD19 BTK
21 b cell deficiency 29.6 TEC ITK IGLL1 CR2 CD40LG CD19
22 congenital hypogammaglobulinemia 29.6 IGLL1 CD40LG CD19 BTK BLNK
23 transient hypogammaglobulinemia of infancy 29.6 CR2 CD40LG CD19 BTK
24 cd40 ligand deficiency 29.5 CD40LG CD19 BTK
25 lymphoplasmacytic lymphoma 29.3 IGHM CD79A CD40LG CD19 BTK
26 myeloma, multiple 29.3 SRC CD79A CD40LG CD19 BTK
27 lymphoma, non-hodgkin, familial 29.2 CR2 CD79B CD79A CD40LG CD19 BTK
28 lymphoma, mucosa-associated lymphoid type 29.2 CR2 CD79B CD79A CD40LG CD19
29 leukemia, chronic lymphocytic 28.8 SRC IGHM IBTK CR2 CD79B CD79A
30 agammaglobulinemia 1, autosomal recessive 12.7
31 agammaglobulinemia 5, autosomal dominant 12.7
32 agammaglobulinemia 6, autosomal recessive 12.6
33 agammaglobulinemia 2, autosomal recessive 12.6
34 agammaglobulinemia 3, autosomal recessive 12.6
35 agammaglobulinemia 7, autosomal recessive 12.6
36 isolated growth hormone deficiency, type iii, with agammaglobulinemia 12.6
37 agammaglobulinemia 8, autosomal dominant 12.6
38 agammaglobulinemia 4, autosomal recessive 12.6
39 pulmonary alveolar proteinosis with hypogammaglobulinemia 12.5
40 agammaglobulinemia, microcephaly, and severe dermatitis 12.4
41 whim syndrome 12.3
42 retinal telangiectasia and hypogammaglobulinemia 12.3
43 microcephaly with chemotactic defect and transient hypogammaglobulinemia 12.3
44 isolated agammaglobulinemia 12.3
45 primary agammaglobulinemia 12.3
46 osteopetrosis, autosomal recessive 7 12.2
47 x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 12.2
48 immunodeficiency 61 12.2
49 syndromic agammaglobulinemia 12.1
50 isolated growth hormone deficiency 11.6

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 13)
# 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 increased antibody level in blood 58 31 hallmark (90%) Very frequent (99-80%) HP:0010702
4 abnormal b cell count 58 31 hallmark (90%) Very frequent (99-80%) HP:0010975
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

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 BLNK BTK CD19 CD40LG CD79A CD79B
2 immune system MP:0005387 9.83 BLNK BMX BTK CD19 CD40LG CD79A
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 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
3
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
4 Pharmaceutical Solutions Phase 3
5 Liver Extracts Phase 3
6 Antiviral Agents Phase 2, Phase 3
7 Plerixafor octahydrochloride Phase 2, Phase 3
8 Anti-Retroviral Agents Phase 2, Phase 3
9 Anti-HIV Agents Phase 2, Phase 3
10
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
11
ofatumumab Approved Phase 2 679818-59-8 6918251
12
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
13
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
14
Melphalan Approved Phase 2 148-82-3 4053 460612
15
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
16
alemtuzumab Approved, Investigational Phase 2 216503-57-0
17
Busulfan Approved, Investigational Phase 2 55-98-1 2478
18
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
19
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
20
Mycophenolic acid Approved Phase 2 24280-93-1 446541
21
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
22
Lenalidomide Approved Phase 2 191732-72-6 216326
23
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
24 Interferon-alpha Phase 2
25 Interferon alpha-2 Phase 2
26 interferons Phase 2
27 Antibodies, Monoclonal Phase 2
28 Protein Kinase Inhibitors Phase 2
29 Interleukin-12 Phase 1, Phase 2
30 Immunoglobulin G Phase 2
31 Antibodies Phase 2
32 Immunoglobulins Phase 2
33 Rho(D) Immune Globulin Phase 2
34 Immunoglobulins, Intravenous Phase 2
35 Immunologic Factors Phase 2
36 gamma-Globulins Phase 2
37 Adjuvants, Immunologic Phase 2
38 Angiogenesis Inhibitors Phase 2
39 Immunosuppressive Agents Phase 2
40 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
41 Antilymphocyte Serum Phase 2
42 Thymoglobulin Phase 2
43 Isoantibodies Phase 2
44
tannic acid Approved 1401-55-4
45
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
46
Adenosine Approved, Investigational 58-61-7 60961
47
Methotrexate Approved 1959-05-2, 59-05-2 126941
48
Methylprednisolone Approved, Vet_approved 83-43-2 6741
49
Methylprednisolone hemisuccinate Approved 2921-57-5
50
leucovorin Approved 58-05-9 6006 143

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
2 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
3 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
4 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). Unknown status NCT01581593 Phase 3
5 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
6 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)
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 Does Replacement With CMVIG in Hypogammaglobulinemic Patients Decrease the Rate of Opportunistic Infections and Chronic Rejection? Completed NCT00137748 Phase 2, Phase 3 CMV-Ig
9 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
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 Multicentre Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency Completed NCT00542997 Phase 3
12 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
13 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
14 A Clinical Study of Immune Globulin Intravenous (Human) Omr-IgG-am IGIV in Subjects With Primary Immune Deficiency Diseases Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
15 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
16 A Phase III, Open-label, Prospective, Multicenter Study to Assess Efficacy, Safety and Pharmacokinetics of Kedrion Intravenous Immunoglobulin (IVIg) 10% in Primary Immunodeficiency Disease (PID) Patients Recruiting NCT03961009 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 Recruiting NCT03762265 Phase 3 PRN1008 Oral Tablet;Placebo Oral Tablet
18 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
19 A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients With WHIM Syndrome. Active, not recruiting NCT02231879 Phase 2, Phase 3 Plerixafor;G-CSF
20 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
21 IVIG for Acquired Immunodeficiency in Lung Transplant Patients Completed NCT00115778 Phase 2 IVIG
22 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)
23 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
24 Open Label, Phase I/II Trial of Rituximab for Chronic, Severe Idiopathic Thrombocytopenic Purpura (ITP)in Children and Adolescents Completed NCT01713738 Phase 1, Phase 2 rituximab
25 Combination of Lenalidomide and Ofatumumab in Patients With Previously Treated Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma (CLL/SLL) Completed NCT01002755 Phase 2 Lenalidomide
26 A Phase II Study of Dasatinib in Chronic Lymphocytic Leukemia in Patients Who Exhibit in Vitro Dasatinib Sensitivity Completed NCT01441882 Phase 2 Dasatinib
27 Study of Immune Responses and Safety of Recombinant CD40 Ligand in Patients With X-Linked Hyper IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
28 Feasibility and Safety of Immunoglobulin (Ig) Treatment in COPD Outpatients With Frequent Exacerbations: Pilot Study 1 Completed NCT03018652 Phase 2 Intravenous immunoglobulin;Normal Saline
29 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
30 A Phase I Study of Mozobil (TM) in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1, Phase 2 Mozobil (TM)
31 Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning - Closed with amendment L;Reduced Intensity Conditioning;Myeloablative Conditioning-Closed with amendment L;GVHD Prophylaxis
32 An Open-Label Phase I/II Pilot Study to Assess the Safety/Tolerability and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Active, not recruiting NCT02199496 Phase 1, Phase 2
33 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
34 Multi-Drug Desensitization Protocol for Heart Transplant Candidates Terminated NCT01556347 Phase 2 Bortezomib, Thymoglobulin, Rituximab, Gamimune N, (IVIG), Plasmapheresis
35 A Randomized Trial Comparing Higher Doses of Rituximab (Rituxan) With Standard Doses of Rituxan in Combination With CVP (Cyclophosphamide, Vincristine,and Prednisone) in Subjects With Chronic ITP Who Have Failed/Relapsed After Rituxan Treatment Withdrawn NCT00161564 Phase 2 Rituximab
36 A Phase I Study of the CXCR-4 Inhibitor AMD3100 for the Treatment of Neutropenia Due to Mutations of CXCR-4, the Myelokathexis Syndrome Completed NCT01058993 Phase 1 AMD3100 or plerixafor
37 Personalized Immunotherapeutic for Antibiotic-resistant Infection Unknown status NCT02508584 Early Phase 1
38 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
39 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
40 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
41 Improving the Diagnosis of CVID by Analysis of Innate and Adaptive Signaling Pathways Unknown status NCT02680652
42 A Pilot Study to Assess Tolerability of Subcutaneous Immunoglobulin Treatment (Hizentra) in Patients Undergoing Allogeneic Hematopoietic Cell Transplantation Completed NCT03401268 subcutaneous immunoglobulin
43 Intravenous Immunoglobulin for Early Prevention of Cardiopulmonary Bypass Induced Hypogammaglobulinemia in Infants and Neonates Completed NCT02043379 IVIG
44 Immunoglobulin Levels and Occurrence of Infections After Lung Transplantation and Impact of IgG Replacement - Observational Arm Completed NCT01361178 SQ IVIG
45 The Predictive Value of Clinical and Immunological Factors in the Development of Pneumonia After Traumatic Brain Injury Completed NCT00929448
46 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
47 Genetic Studies of the X-Linked Lymphoproliferative Disease Completed NCT00359411
48 Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes Recruiting NCT00001244
49 Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) Diagnosed in Children and Young Adults With Common Variable Immunodeficiency Recruiting NCT03648567
50 Improving the Diagnosis of Common Variable Immune Deficiency by Analysis of Innate and Adaptive Signaling Pathways Recruiting NCT03335605

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, T Cells, Bone, Bone Marrow, Lung, Liver, Heart

Publications for Agammaglobulinemia

Articles related to Agammaglobulinemia:

(show top 50) (show all 4258)
# Title Authors PMID Year
1
Hematopoietic engraftment of XLA bone marrow CD34(+) cells in NOG/SCID mice. 54 61
19235603 2009
2
Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia. 54 61
17765309 2008
3
Asthma and allergic rhinitis in a patient with BTK deficiency. 54 61
18714539 2008
4
Mutations of the Igbeta gene cause agammaglobulinemia in man. 54 61
17709424 2007
5
[Cellular and humoral immunodeficiency in children with vaccine-associated paralytic poliomyelitis]. 54 61
17297880 2006
6
A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. 54 61
16159644 2005
7
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia. 54 61
14974089 2004
8
Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation. 54 61
12958074 2004
9
Gene symbol: btk. Disease: Bruton agammaglobulinemia. 54 61
12974276 2003
10
Indications for the immunological evaluation of patients with meningitis. 54 61
12522751 2003
11
Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia. 54 61
12148599 2002
12
G Protein beta gamma subunits act on the catalytic domain to stimulate Bruton's agammaglobulinemia tyrosine kinase. 54 61
11698416 2002
13
Role of the PHTH module in protein substrate recognition by Bruton's agammaglobulinemia tyrosine kinase. 54 61
11577078 2001
14
Molecular analysis of Bruton's tyrosine kinase gene in Spain. 54 61
11438999 2001
15
Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA). 54 61
11102316 2000
16
The cellular phenotype conditions Btk for cell survival or apoptosis signaling. 54 61
11213806 2000
17
Analysis of the genetic alterations in a case of juvenile multiple colon carcinoma with hypogammaglobulinemia. 54 61
11034248 2000
18
X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group. 54 61
10859027 2000
19
Synergistic activation of the human Btk promoter by transcription factors Sp1/3 and PU.1. 54 61
10362515 1999
20
The Tec family protein-tyrosine kinases: a subset of kinases for a subset of signalings. 54 61
10641436 1999
21
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 54 61
10220140 1999
22
BTKbase, mutation database for X-linked agammaglobulinemia (XLA). 54 61
9399844 1998
23
BTK, the tyrosine kinase affected in X-linked agammaglobulinemia. 54 61
9159207 1997
24
BTKbase, mutation database for X-linked agammaglobulinemia (XLA) 54 61
9016530 1997
25
Cell specific expression of human Bruton's agammaglobulinemia tyrosine kinase gene (Btk) is regulated by Sp1- and Spi-1/PU.1-family members. 54 61
8934542 1996
26
X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease. 54 61
8885720 1996
27
[Unexplained remission of common variable immunodeficiency: analysis of a clinical case]. 54 61
9041731 1996
28
BTKbase, mutation database for X-linked agammaglobulinemia (XLA). 54 61
8594569 1996
29
Structural basis for X-linked agammaglobulinemia (XLA): mutations at interacting Btk residues R562, W563, and A582. 54 61
7554468 1995
30
Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci. 54 61
7989760 1994
31
Structural basis of SH2 domain mutations in X-linked agammaglobulinemia. 54 61
7528500 1994
32
Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells. 54 61
7524098 1994
33
CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers. 54 61
7916370 1994
34
Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. 54 61
8090769 1994
35
Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). 54 61
7519238 1994
36
Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. 54 61
8283037 1994
37
Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. 54 61
8332900 1993
38
Autoimmunity and immunodeficiency. 61
31977526 2020
39
Subcutaneous immunoglobulin replacement following CD19-specific chimeric antigen receptor T-cell therapy for B-cell acute lymphoblastic leukemia in pediatric patients. 61
31793170 2020
40
Acute mastoiditis in a newborn with 11 days of life: Case report. 61
31812003 2020
41
Immunoglobulin serum levels in rituximab-treated patients with steroid-dependent nephrotic syndrome. 61
31705306 2020
42
Rituximab in children with myelin oligodendrocyte glycoprotein antibody and relapsing neuroinflammatory disease. 61
31468511 2020
43
A case of IgE myeloma transformed into IgE-producing plasma cell leukaemia. 61
31839726 2020
44
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience. 61
32009323 2020
45
Efficacy and safety of bortezomib in refractory lupus nephritis: a single-center experience. 61
31865857 2020
46
B-cell depletion induces prolonged remission in patients with giant cell hepatitis and autoimmune hemolytic anemia. 61
31076361 2020
47
Treosulfan-based reduced toxicity hematopoietic stem cell transplantation in X-linked agammaglobulinemia: A cost-effective alternative to long-term immunoglobulin replacement in developing countries. 61
31821668 2020
48
X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic. 61
31754776 2020
49
Profound effect of post-rituximab mycophenolate mofetil administration for persistent hypogammaglobulinemia in young children with steroid-dependent nephrotic syndrome. 61
32037470 2020
50
Pneumocystis jiroveci. 61
32000290 2020

Variations for Agammaglobulinemia

ClinVar genetic disease variations for Agammaglobulinemia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTK NM_000061.2(BTK):c.121G>A (p.Glu41Lys)SNV Likely pathogenic 376751 rs1057520045 X:100630152-100630152 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:

36
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

Pathways related to Agammaglobulinemia according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 SRC PIK3R1 ITK CD79B CD79A CD40LG
2
Show member pathways
13.33 TEC SRC PIK3R1 ITK CD40LG BTK
3
Show member pathways
13.24 SRC PIK3R1 ITK CD79B CD79A CD19
4
Show member pathways
13.12 TEC SRC PIK3R1 CR2 CD79B CD79A
5
Show member pathways
12.98 SRC PIK3R1 ITK CD79B CD79A BTK
6
Show member pathways
12.75 SRC PIK3R1 IGHM CD79B CD79A BTK
7
Show member pathways
12.73 PIK3R1 CR2 CD19 BTK BLNK
8
Show member pathways
12.59 SRC PIK3R1 CD79B CD79A CD19 BTK
9
Show member pathways
12.53 PIK3R1 ITK IGHM CD79B CD79A CD40LG
10 12.49 TEC TCF3 ITK CD79A CD40LG CD19
11
Show member pathways
12.3 TEC PIK3R1 ITK CD40LG
12
Show member pathways
12.2 TEC PIK3R1 IBTK CR2 CD79B CD79A
13
Show member pathways
12.19 SRC PIK3R1 ITK IGHM CR2 CD79B
14
Show member pathways
12.13 SRC PIK3R1 BTK BLNK
15
Show member pathways
12.09 TEC SRC PIK3R1 BTK
16 12.06 TEC SRC ITK BTK BMX
17 11.98 TEC PIK3R1 BTK BLNK
18
Show member pathways
11.97 PIK3R1 CD79B CD79A BTK BLNK
19 11.95 TEC SRC PIK3R1 BTK
20 11.87 TCF3 SRC PIK3R1
21 11.83 CD40LG BTK BLNK
22
Show member pathways
11.82 TEC SRC PIK3R1 BTK
23 11.51 SRC PIK3R1 BMX
24 11.5 CR2 CD40LG CD19
25 11.42 TEC SRC BTK
26 11.35 SRC PIK3R1 ITK BTK
27 11.31 IGLL1 CD79A CD40LG CD19 BTK BLNK
28
Show member pathways
11.25 TEC PIK3R1 ITK CD79B CD79A CD19
29 10.91 PIK3R1 BLNK
30 10.91 SRC PIK3R1
31 10.88 SRC PIK3R1
32 10.78 SRC PIK3R1
33 10.62 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 10.16 TEC SRC PLEK PIK3R1 LRRC8A IGLL1
2 plasma membrane GO:0005886 9.8 TEC SRC PLEK PIK3R1 LRRC8A IGHM
3 ruffle membrane GO:0032587 9.5 SRC PLEK BMX
4 B cell receptor complex GO:0019815 9.16 CD79B CD79A
5 external side of plasma membrane GO:0009897 9.1 IGLL1 IGHM CD79B CD79A CD40LG CD19

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.97 TEC SRC PIK3R1 ITK BTK BMX
2 intracellular signal transduction GO:0035556 9.87 TEC SRC PLEK ITK BTK BMX
3 leukocyte migration GO:0050900 9.85 SRC PIK3R1 IGLL1 IGHM
4 Fc-epsilon receptor signaling pathway GO:0038095 9.81 TEC PIK3R1 ITK BTK
5 immune system process GO:0002376 9.81 TEC SRC ITK IGHM CR2 CD79B
6 adaptive immune response GO:0002250 9.8 TEC ITK IGHM CD79B CD79A CD19
7 peptidyl-tyrosine phosphorylation GO:0018108 9.78 TEC SRC BTK BMX
8 platelet activation GO:0030168 9.73 SRC PIK3R1 CD40LG
9 T cell costimulation GO:0031295 9.7 SRC PIK3R1 CD40LG
10 integrin-mediated signaling pathway GO:0007229 9.67 TEC SRC PLEK CD40LG
11 B cell proliferation GO:0042100 9.63 CR2 CD79A CD40LG
12 B cell activation GO:0042113 9.61 CD79A BTK BLNK
13 peptidyl-tyrosine autophosphorylation GO:0038083 9.58 TEC SRC ITK
14 positive regulation of integrin activation GO:0033625 9.54 SRC PLEK
15 B cell differentiation GO:0030183 9.5 TCF3 PIK3R1 CR2 CD79B CD79A CD40LG
16 B cell receptor signaling pathway GO:0050853 9.23 TEC ITK IGLL1 IGHM CD79B CD79A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.11 TEC TCF3 SRC PLEK PIK3R1 LRRC8A
2 protein kinase activity GO:0004672 9.72 TEC SRC ITK BTK BMX
3 protein tyrosine kinase activity GO:0004713 9.35 TEC SRC ITK BTK BMX
4 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 9.26 PIK3R1 BLNK
5 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.02 TEC SRC ITK BTK BMX

Sources for Agammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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