MCID: AGM001
MIFTS: 71

Agammaglobulinemia

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

Aliases & Classifications for Agammaglobulinemia

MalaCards integrated aliases for Agammaglobulinemia:

Name: Agammaglobulinemia 12 77 30 56 6 45 15 41 74
Hypogammaglobulinemia 12 56 15 74
Mu Heavy Chain Deficiency 12
Mu-Heavy Chain Disease 60
Agammaglobulinemias 38
Mu-Chain Disease 74
Mu-Hcd 60
Ighm 12

Characteristics:

Orphanet epidemiological data:

60
mu-heavy chain disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:2583
KEGG 38 H00085
ICD9CM 36 279.00
MeSH 45 D000361
NCIt 51 C26931
SNOMED-CT 69 81282009
ICD10 34 D80.1
ICD10 via Orphanet 35 C88.2
UMLS via Orphanet 75 C0242310
Orphanet 60 ORPHA100024

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 Innate Immune System. The drugs Antibodies and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone and t cells, and related phenotypes are splenomegaly and abnormality of bone marrow cell morphology

Wikipedia : 77 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 424)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 1, autosomal recessive 34.1 BTK IGHM
2 agammaglobulinemia, x-linked 33.2 BTK CD40LG CD79A IGHM ITK SRC
3 congenital hypogammaglobulinemia 33.1 BLNK BTK CD19 CD79A IGLL1
4 agammaglobulinemia, non-bruton type 32.9 BLNK BTK CD79A CD79B IGHM IGLL1
5 immunoglobulin a deficiency 1 32.2 BTK CD40LG CD79A
6 immunodeficiency, common variable, 2 32.2 CD19 CR2
7 waldenstrom macroglobulinemia 32.0 BTK CD40LG IGHM
8 cryoglobulinemia, familial mixed 31.9 CD40LG IGHM
9 immunoglobulin g deficiency 31.8 CD40LG CD79A
10 common variable immunodeficiency 31.2 BTK CD19 CD40LG CD79A CR2
11 immunodeficiency with hyper-igm, type 1 29.8 BTK CD40LG CD79A
12 cryoglobulinemia 29.1 CD40LG CD79A CR2
13 transient hypogammaglobulinemia of infancy 28.8 BTK CD19 CD40LG CR2
14 b cell deficiency 28.6 BTK CD19 CD40LG CR2 IGLL1
15 leukemia, chronic lymphocytic 28.4 CD19 CD40LG CD79B CR2 IGHM
16 agammaglobulinemia 6, autosomal recessive 12.5
17 agammaglobulinemia 2, autosomal recessive 12.5
18 agammaglobulinemia 3, autosomal recessive 12.5
19 agammaglobulinemia 5, autosomal dominant 12.5
20 agammaglobulinemia 7, autosomal recessive 12.5
21 agammaglobulinemia 8, autosomal dominant 12.5
22 agammaglobulinemia 4, autosomal recessive 12.4
23 isolated growth hormone deficiency, type iii, with agammaglobulinemia 12.4
24 pulmonary alveolar proteinosis with hypogammaglobulinemia 12.4
25 whim syndrome 12.2
26 primary agammaglobulinemia 12.1
27 agammaglobulinemia, microcephaly, and severe dermatitis 12.1
28 microcephaly with chemotactic defect and transient hypogammaglobulinemia 12.1
29 retinal telangiectasia and hypogammaglobulinemia 12.1
30 osteopetrosis, autosomal recessive 7 12.1
31 x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 12.0
32 isolated agammaglobulinemia 12.0
33 immunodeficiency 61 11.8
34 mohr-tranebjaerg syndrome 11.5
35 immunodeficiency 14 11.4
36 frenkel russe syndrome 11.3
37 primary central nervous system lymphoma 11.3
38 lymphoproliferative syndrome 2 11.3
39 autoimmune lymphoproliferative syndrome, type v 11.2
40 spondyloepimetaphyseal dysplasia, sponastrime type 11.2
41 immunodeficiency, common variable, 7 11.2
42 mu chain disease 11.2
43 cold agglutinin disease 11.2
44 immunodeficiency 15b 11.2
45 short-limb skeletal dysplasia with severe combined immunodeficiency 11.2
46 isolated growth hormone deficiency type iii 11.2
47 say barber miller syndrome 11.2
48 hepatic venoocclusive disease with immunodeficiency 11.1
49 lymphoproliferative syndrome, x-linked, 2 11.1
50 immunodeficiency 47 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:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 abnormality of bone marrow cell morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005561
3 increased antibody level in blood 60 33 hallmark (90%) Very frequent (99-80%) HP:0010702
4 abnormal b cell count 33 hallmark (90%) HP:0010975
5 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
6 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
7 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
8 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
9 lymphadenopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002716
10 bence jones proteinuria 60 33 frequent (33%) Frequent (79-30%) HP:0030156
11 nephropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000112
12 osteoporosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000939
13 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
14 abnormality of b cell number 60 Very frequent (99-80%)

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 BLNK BTK CD19 CD40LG CD79A CD79B
2 cellular MP:0005384 9.96 BLNK BTK CD19 CD40LG CD79A ITK
3 immune system MP:0005387 9.8 BLNK BTK CD19 CD40LG CD79A CD79B
4 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 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
2 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
3 Immunoglobulins Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable
4 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2,Not Applicable
5 Immunoglobulin G Phase 4,Phase 3,Phase 2
6 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2,Not Applicable
7 gamma-Globulins Phase 4,Phase 3,Phase 2,Not Applicable
8
Adenosine Approved, Investigational Phase 3,Phase 1,Phase 2 58-61-7 60961
9
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
10
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
11
Methionine Approved, Nutraceutical Phase 2, Phase 3 63-68-3 6137
12 Anti-Infective Agents Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable
13 Antiviral Agents Phase 2, Phase 3
14 Anti-HIV Agents Phase 2, Phase 3
15 Adjuvants, Immunologic Phase 2, Phase 3
16 Plerixafor octahydrochloride Phase 2, Phase 3
17 Anti-Retroviral Agents Phase 2, Phase 3
18
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
19
ofatumumab Approved Phase 2 679818-59-8 6918251
20
Lenalidomide Approved Phase 2 191732-72-6 216326
21
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
22
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
23
alemtuzumab Approved, Investigational Phase 2 216503-57-0
24
Melphalan Approved Phase 2 148-82-3 460612 4053
25
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
26 Interferon-alpha Phase 2
27 Pharmaceutical Solutions Phase 2
28 interferons Phase 2
29 Interferon alpha-2 Phase 2
30 Peripheral Nervous System Agents Phase 1, Phase 2,Not Applicable
31 Neurotransmitter Agents Phase 1, Phase 2
32 Analgesics Phase 1, Phase 2
33 Anti-Arrhythmia Agents Phase 1, Phase 2
34 Vasodilator Agents Phase 1, Phase 2
35 Angiogenesis Inhibitors Phase 2
36 Antibodies, Monoclonal Phase 2
37 Angiogenesis Modulating Agents Phase 2
38 Immunosuppressive Agents Phase 2,Phase 1,Not Applicable
39 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
40 Antineoplastic Agents, Immunological Phase 2
41 Antimetabolites Phase 2,Not Applicable
42 Antimetabolites, Antineoplastic Phase 2,Not Applicable
43 Alkylating Agents Phase 2,Not Applicable
44 Interleukin-12 Phase 1, Phase 2
45 Dermatologic Agents Phase 1, Phase 2,Not Applicable
46 Vaccines Phase 2,Not Applicable
47 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
48
Mycophenolic acid Approved Phase 1 24280-93-1 446541
49
Miconazole Approved, Investigational, Vet_approved Phase 1,Not Applicable 22916-47-8 4189
50 Antibiotics, Antitubercular Phase 1,Early Phase 1

Interventional clinical trials:

(show all 41)
# 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 Efficacy, Safety and Pharmacokinetics Study of Kedrion IVIG 10% to Treat Participants With Primary Immunodeficiency (PID) Recruiting NCT03961009 Phase 3
17 Plerixafor Versus G-CSF in the Treatment of People With WHIM Syndrome Active, not recruiting NCT02231879 Phase 2, Phase 3 Plerixafor;G-CSF
18 EZN-2279 in Patients With ADA-SCID Active, not recruiting NCT01420627 Phase 3
19 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
20 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)
21 Intravenous Immunoglobulin (IVIG) in Lung Transplantation Completed NCT00115778 Phase 2 IVIG
22 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
23 Lenalidomide and Ofatumumab in Treating Participants With Previously Treated Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma Completed NCT01002755 Phase 2 Lenalidomide
24 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
25 Study of Safety, Tolerability, and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Active, not recruiting NCT02199496 Phase 1, Phase 2
26 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Active, not recruiting NCT01380990 Phase 1, Phase 2
27 Lenalidomide as Immune Adjuvant in Patient's With Chronic Lymphocytic Leukemia (CLL) Terminated NCT01924169 Phase 2 Lenalidomide
28 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
29 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
30 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
31 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
32 Investigation of Immune Disorders and Deficiencies Unknown status NCT01981785
33 Personalized Immunotherapeutic for Antibiotic-resistant Infection Unknown status NCT02508584 Early Phase 1
34 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401 Not Applicable
35 Subcutaneous Ig in Allogeneic Stem Cell Transplant Recipients Completed NCT03401268 Not Applicable subcutaneous immunoglobulin
36 Post-bypass Prophylactic IVIG in Infants and Neonates Completed NCT02043379 Not Applicable IVIG
37 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
38 Registry Study of Revcovi Treatment in Patients With ADA-SCID Not yet recruiting NCT03878069
39 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399 Not Applicable
40 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
41 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 30

Anatomical Context for Agammaglobulinemia

MalaCards organs/tissues related to Agammaglobulinemia:

42
B Cells, Bone, T Cells, Bone Marrow, Lung, Liver, Prostate

Publications for Agammaglobulinemia

Articles related to Agammaglobulinemia:

(show top 50) (show all 1503)
# Title Authors Year
1
Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan. ( 30063982 )
2019
2
Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene. ( 30072168 )
2019
3
Oral direct-acting antiviral therapy for hepatitis C virus infection in X-linked agammaglobulinemia. ( 30339854 )
2019
4
Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C. ( 30630113 )
2019
5
Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation. ( 30882382 )
2019
6
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. ( 30937141 )
2019
7
Comparison of Clinical and Immunological Features and Mortality in Common Variable Immunodeficiency and Agammaglobulinemia Patients. ( 31059734 )
2019
8
Accelerated immunodeficiency-associated vaccine derived poliovirus serotype 3 (iVDPV3) sequence evolution rate in a 3-month old boy with X-linked agammaglobulinemia and perinatal HIV exposure. ( 31086993 )
2019
9
Achromobacter xylosoxidans Sepsis Unveiling X-linked Agammaglobulinemia Masquerading as Systemic-onset Juvenile Idiopathic Arthritis. ( 31102385 )
2019
10
Functional Antibody Responses Following Allogeneic Stem Cell Transplantation for TP53 Mutant pre-B-ALL in a Patient With X-Linked Agammaglobulinemia. ( 31105705 )
2019
11
Cytomegalovirus Colitis in Primary Hypogammaglobulinemia With Normal CD4+ T Cells: Deficiency of CMV-Specific CD8+ T Cells. ( 30899266 )
2019
12
Hypermobile type Ehlers-Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case-based review on new classification, diagnosis, and multidisciplinary management. ( 30997063 )
2019
13
IgA hypogammaglobulinemia predicts outcome in chronic lymphocytic leukemia. ( 30635629 )
2019
14
Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency. ( 31058115 )
2019
15
Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings. ( 30819232 )
2019
16
Lifelong immunoglobulin replacement is not always necessary: A case description of a patient with recurrent infections and hypogammaglobulinemia. ( 30968707 )
2019
17
The Many Gaps in Our Knowledge of the Etiology, Pathogenesis, Complications, and Prognosis of Hypogammaglobulinemia and Common Variable Immune Deficiency. ( 30961841 )
2019
18
Secondary Hypogammaglobulinemia: An Increasingly Recognized Complication of Treatment with Immunomodulators and After Solid Organ Transplantation. ( 30466771 )
2019
19
Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience. ( 29424453 )
2018
20
Emergence of Carbapenem Non-susceptible Campylobacter coli after Long-term Treatment against Recurrent Bacteremia in a Patient with X-linked Agammaglobulinemia. ( 29491300 )
2018
21
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
22
Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia. ( 29543351 )
2018
23
Helicobacter cinaedi bacteremia mimicking eosinophilic fasciitis in a patient with X-linked agammaglobulinemia. ( 29693060 )
2018
24
Long-term follow-up of an activated PI3K-δ syndrome 2 in patient presenting with an agammaglobulinemia phenotype. ( 30081089 )
2018
25
Type I and III Interferon Productions Are Impaired in X-Linked Agammaglobulinemia Patients Toward Poliovirus but Not Influenza Virus. ( 30147693 )
2018
26
Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy. ( 30191508 )
2018
27
Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia. ( 30311057 )
2018
28
Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia. ( 30430354 )
2018
29
Disseminated Spiroplasma apis Infection in Patient with Agammaglobulinemia, France. ( 30457541 )
2018
30
Toll-like receptors pathway in common variable immune deficiency (CVID) and X-linked agammaglobulinemia (XLA). ( 30698158 )
2018
31
Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1. ( 29178053 )
2018
32
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains. ( 29202590 )
2018
33
An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers. ( 29307603 )
2018
34
X-linked agammaglobulinemia complicated with pulmonary aspergillosis. ( 29356289 )
2018
35
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. ( 29170023 )
2018
36
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
37
Management of hypogammaglobulinemia and recurrent infections in a chronic lymphocytic leukemia patient receiving ibrutinib. ( 29174859 )
2018
38
Colorectal malakoplakia in a patient with hypogammaglobulinemia. ( 29627491 )
2018
39
Rituximab-induced hypogammaglobulinemia in patients with neuromyelitis optica spectrum disorders. ( 30258855 )
2018
40
Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome. ( 29575308 )
2018
41
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. ( 29455859 )
2018
42
Hypogammaglobulinemia Observed One Year after Rituximab Treatment for Idiopathic Thrombocytopenic Purpura. ( 29755528 )
2018
43
Predictors of hypogammaglobulinemia during rituximab maintenance therapy in rheumatoid arthritis: A 12-year longitudinal multi-center study. ( 29548542 )
2018
44
B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy. ( 30152873 )
2018
45
Secondary Hypogammaglobulinemia After Rituximab for Neuromyelitis Optica: A Case Report. ( 29752554 )
2018
46
Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels. ( 29461210 )
2018
47
Hypogammaglobulinemia due to CAR T-cell therapy. ( 29230962 )
2018
48
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
49
Subcutaneous immunoglobulins in patients with multiple myeloma and secondary hypogammaglobulinemia: a randomized trial. ( 29191714 )
2018
50
Association of Immunoglobulin Levels, Infectious Risk, and Mortality With Rituximab and Hypogammaglobulinemia. ( 30646343 )
2018

Variations for Agammaglobulinemia

ClinVar genetic disease variations for Agammaglobulinemia:

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

Expression for Agammaglobulinemia

LifeMap Discovery
Genes differentially expressed in tissues of Agammaglobulinemia patients vs. healthy controls: 35 (show all 31)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 FCRLA Fc receptor-like A Blood - 6.98 0.000
2 CD19 CD19 molecule Blood - 6.59 0.000
3 VPREB3 pre-B lymphocyte 3 Blood - 6.37 0.000
4 CD79A CD79a molecule, immunoglobulin-associated alpha Blood - 6.11 0.000
5 OSBPL10 oxysterol binding protein-like 10 Blood - 5.82 0.000
6 TNFRSF17 tumor necrosis factor receptor superfamily, member 17 Blood - 5.79 0.000
7 CNTNAP2 contactin associated protein-like 2 Blood - 5.13 0.000
8 BLK BLK proto-oncogene, Src family tyrosine kinase Blood - 5.09 0.000
9 EBF1 early B-cell factor 1 Blood - 4.81 0.000
10 JCHAIN joining chain of multimeric IgA and IgM Blood - 4.59 0.000
11 CD22 CD22 molecule Blood - 4.46 0.000
12 POU2AF1 POU class 2 associating factor 1 Blood - 4.45 0.000
13 LARGE like-glycosyltransferase Blood - 4.37 0.000
14 TCL1A T-cell leukemia/lymphoma 1A Blood - 4.26 0.000
15 SPIB Spi-B transcription factor (Spi-1/PU.1 related) Blood - 4.15 0.000
16 KLHL14 kelch-like family member 14 Blood - 4.08 0.000
17 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B Blood - 4.07 0.000
18 CXCR5 chemokine (C-X-C motif) receptor 5 Blood - 4.03 0.000
19 CD79B CD79b molecule, immunoglobulin-associated beta Blood - 3.95 0.000
20 COBLL1 cordon-bleu WH2 repeat protein-like 1 Blood - 3.89 0.000
21 FCRL1 Fc receptor-like 1 Blood - 3.85 0.000
22 FCRL2 Fc receptor-like 2 Blood - 3.84 0.000
23 SNX22 sorting nexin 22 Blood - 3.80 0.000
24 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) Blood - 3.79 0.000
25 HLA-DOB major histocompatibility complex, class II, DO beta Blood - 3.66 0.000
26 LAMA5 laminin, alpha 5 Blood - 3.40 0.000
27 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 Blood - 3.39 0.000
28 GLDC glycine dehydrogenase (decarboxylating) Blood - 3.28 0.000
29 KIAA0125 KIAA0125 Blood - 3.21 0.000
30 KCNG1 potassium channel, voltage gated modifier subfamily G, member 1 Blood - 3.15 0.000
31 COCH cochlin Blood - 3.07 0.000
Search GEO for disease gene expression data for Agammaglobulinemia.

Pathways for Agammaglobulinemia

Pathways related to Agammaglobulinemia according to KEGG:

38
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

Pathways related to Agammaglobulinemia according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 BLNK BTK CD19 CD40LG CD79A CD79B
2
Show member pathways
13.33 BLNK BTK CD19 CD40LG CD79A CD79B
3
Show member pathways
13.24 BTK CD19 CD79A CD79B ITK PIK3R1
4
Show member pathways
13.08 BLNK BTK CD19 CD79A CD79B CR2
5
Show member pathways
12.96 BLNK BTK CD79A CD79B ITK PIK3R1
6
Show member pathways
12.81 BTK CD40LG CD79A CD79B IGHM PIK3R1
7
Show member pathways
12.59 BLNK BTK CD19 CD79A CD79B PIK3R1
8
Show member pathways
12.53 BLNK BTK CD40LG CD79A CD79B IGHM
9
Show member pathways
12.47 CD40LG ITK PIK3R1 TEC
10 12.44 BLNK BTK CD19 CD40LG CD79A ITK
11
Show member pathways
12.3 CD40LG ITK PIK3R1 TEC
12
Show member pathways
12.19 BLNK BTK CD19 CD79A CD79B CR2
13
Show member pathways
12.18 BLNK BTK CD19 CD79A CD79B CR2
14
Show member pathways
12.14 BLNK BTK PIK3R1 SRC
15
Show member pathways
12.14 BLNK BTK ITK PIK3R1 SRC TEC
16
Show member pathways
12.09 BTK PIK3R1 SRC TEC
17 12.05 BTK ITK SRC TEC
18
Show member pathways
11.99 BLNK BTK CD79A CD79B PIK3R1
19 11.98 BLNK BTK PIK3R1 TEC
20 11.94 BTK PIK3R1 SRC
21 11.94 BTK PIK3R1 SRC TEC
22 11.89 CD19 CD79A CD79B
23 11.86 PIK3R1 SRC TCF3
24
Show member pathways
11.82 BTK PIK3R1 SRC TEC
25 11.81 BLNK BTK CD40LG
26 11.51 CD19 CD40LG CR2
27 11.44 BTK SRC TEC
28 11.37 BTK ITK PIK3R1 SRC
29 11.3 BLNK BTK CD19 CD40LG CD79A IGLL1
30
Show member pathways
11.25 BLNK BTK CD19 CD79A CD79B ITK
31 10.94 PIK3R1 SRC
32 10.91 PIK3R1 SRC
33 10.91 BLNK PIK3R1
34 10.88 PIK3R1 SRC
35 10.78 PIK3R1 SRC
36 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 membrane GO:0016020 9.86 BLNK BTK CD19 CD40LG CD79A CD79B
2 B cell receptor complex GO:0019815 9.16 CD79A CD79B
3 external side of plasma membrane GO:0009897 9.1 CD19 CD40LG CD79A CD79B IGHM IGLL1
4 plasma membrane GO:0005886 10.03 BLNK BTK CD19 CD40LG CD79A CD79B

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.93 BTK ITK PIK3R1 SRC TEC
2 intracellular signal transduction GO:0035556 9.91 BLNK BTK ITK SRC TEC
3 leukocyte migration GO:0050900 9.8 IGHM IGLL1 PIK3R1 SRC
4 adaptive immune response GO:0002250 9.8 BTK CD79A CD79B IGHM ITK TEC
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 platelet activation GO:0030168 9.7 CD40LG PIK3R1 SRC
9 T cell costimulation GO:0031295 9.65 CD40LG PIK3R1 SRC
10 B cell proliferation GO:0042100 9.63 CD40LG CD79A CR2
11 peptidyl-tyrosine autophosphorylation GO:0038083 9.56 BTK ITK SRC TEC
12 B cell activation GO:0042113 9.54 BLNK BTK CD79A
13 B cell differentiation GO:0030183 9.5 BLNK CD40LG CD79A CD79B CR2 PIK3R1
14 phosphatidylinositol phosphorylation GO:0046854 9.25 PIK3R1
15 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 9.32 PIK3R1 SRC
2 transmembrane receptor protein tyrosine kinase adaptor activity GO:0005068 9.26 BLNK PIK3R1
3 protein tyrosine kinase activity GO:0004713 9.26 BTK ITK SRC TEC
4 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.92 BTK ITK SRC TEC
5 protein binding GO:0005515 10.06 BLNK BTK CD19 CD40LG CD79A CD79B

Sources for Agammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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