MCID: PRM038
MIFTS: 47

Primary Agammaglobulinemia

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

Aliases & Classifications for Primary Agammaglobulinemia

Summaries for Primary Agammaglobulinemia

MalaCards based summary : Primary Agammaglobulinemia, also known as immunoglobulin deficiency, is related to immunodeficiency, common variable, 2 and common variable immunodeficiency. An important gene associated with Primary Agammaglobulinemia is SYK (Spleen Associated Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Mechlorethamine and Infliximab have been mentioned in the context of this disorder. Affiliated tissues include liver, prostate and t cells, and related phenotype is Reduced mammosphere formation.

Wikipedia : 74 Hypogammaglobulinemia is a problem with the immune system in which not enough gamma globulins are... more...

Related Diseases for Primary 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 Primary Agammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3290)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 2 31.8 TNFRSF13C TNFRSF13B
2 common variable immunodeficiency 31.3 TNFRSF13C TNFRSF13B
3 immunoglobulin alpha deficiency 30.2 TNFRSF13C TNFRSF13B
4 agammaglobulinemia 30.1 TNFRSF13B SYK SEC61A1
5 immunodeficiency with hyper-igm, type 1 29.7 TNFRSF13C TNFRSF13B
6 cryptococcal meningitis 29.7 TNFRSF13C TNFRSF13B
7 thrombocytopenia due to platelet alloimmunization 29.6 TNFRSF13B SYK
8 selective igg deficiency disease 29.6 TNFRSF13C TNFRSF13B
9 agammaglobulinemia, x-linked 29.4 TNFRSF13C TNFRSF13B SYK
10 macroglobulinemia 29.2 TNFRSF13C TNFRSF13B SYK
11 transient hypogammaglobulinemia of infancy 29.2 TNFRSF13C TNFRSF13B
12 b cell deficiency 29.1 TNFRSF13C TNFRSF13B
13 follicular lymphoma 29.0 TNFRSF13C SYK
14 autoimmune disease 28.9 TNFRSF13C TNFRSF13B SYK
15 leukemia, chronic lymphocytic 28.9 TNFRSF13C TNFRSF13B SYK
16 thrombocytopenia 28.7 TNFRSF13C TNFRSF13B SYK
17 lymphoma, non-hodgkin, familial 28.7 TNFRSF13C TNFRSF13B SYK
18 systemic lupus erythematosus 28.3 TNFRSF13C TNFRSF13B SYK
19 autoinflammation, antibody deficiency, and immune dysregulation 11.7
20 familial cold autoinflammatory syndrome 3 11.7
21 specific antibody deficiency 11.6
22 antiphospholipid syndrome 11.5
23 immunodeficiency, common variable, 1 11.5
24 immunodeficiency, common variable, 3 11.4
25 roifman syndrome 11.4
26 warm antibody hemolytic anemia 11.4
27 immunodeficiency, common variable, 4 11.4
28 immunodeficiency, common variable, 6 11.4
29 immunodeficiency, common variable, 5 11.4
30 goodpasture syndrome 11.3
31 selective immunoglobulin deficiency disease 11.2
32 cold agglutinin disease 11.1
33 pemphigus vulgaris, familial 11.1
34 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.1
35 immunodeficiency-centromeric instability-facial anomalies syndrome 2 11.1
36 immunodeficiency 36 11.1
37 specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of b cells 11.1
38 anti-pit-1 antibody syndrome 11.1
39 myasthenia gravis 11.0
40 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis 11.0
41 castleman disease 11.0
42 alopecia antibody deficiency 11.0
43 lichtenstein syndrome 11.0
44 pauci-immune glomerulonephritis without anca 11.0
45 antigen identified by monoclonal antibody 30.2a8 11.0
46 antigen msk41 identified by monoclonal antibody e3 11.0
47 waldenstroem's macroglobulinemia 11.0
48 b-cell expansion with nfkb and t-cell anergy 11.0
49 miller fisher syndrome 11.0
50 microscopic polyangiitis 11.0

Graphical network of the top 20 diseases related to Primary Agammaglobulinemia:



Diseases related to Primary Agammaglobulinemia

Symptoms & Phenotypes for Primary Agammaglobulinemia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.8 SYK TNFRSF13B TNFRSF13C

Drugs & Therapeutics for Primary Agammaglobulinemia

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

(show top 50) (show all 711)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
2
Infliximab Approved Phase 4 170277-31-3
3
Azathioprine Approved Phase 4 446-86-6 2265
4 Certoparin Approved, Investigational Phase 4
5
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
6
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
9
Interferon beta-1a Approved, Investigational Phase 4 145258-61-3 6438354
10
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
11
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
12
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
13
Ranibizumab Approved Phase 4 347396-82-1 459903
14 Benralizumab Approved, Investigational Phase 4 1044511-01-4
15
Sulfamethoxazole Approved Phase 4 723-46-6 5329
16
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
17
Lactitol Approved, Investigational Phase 4 585-86-4 157355
18
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 637568 5271565
19
Zinc Approved, Investigational Phase 4 7440-66-6 32051
20
Povidone Approved Phase 4 9003-39-8 131751496
21
Hydroxychloroquine Approved Phase 4 118-42-3 3652
22 Vedolizumab Approved Phase 4 943609-66-3
23
Dalteparin Approved Phase 4 9005-49-6
24
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
25
Empagliflozin Approved Phase 4 864070-44-0
26
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
27
Ravulizumab Approved, Investigational Phase 4 1803171-55-2
28
Digoxin Approved Phase 4 20830-75-5 30322 2724385
29
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
30
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
31
Dolutegravir Approved Phase 4 1051375-16-6 54726191
32
Enoxaparin Approved Phase 4 9005-49-6 772
33
Pancrelipase Approved, Investigational Phase 4 53608-75-6
34
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
35
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
36
Oxaliplatin Approved, Investigational Phase 4 61825-94-3 5310940 9887054 6857599 43805
37
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
38
Gemcitabine Approved Phase 4 95058-81-4 60750
39
Etoposide Approved Phase 4 33419-42-0 36462
40
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
41
Ifosfamide Approved Phase 4 3778-73-2 3690
42
Epirubicin Approved Phase 4 56420-45-2 41867
43 Brodalumab Approved, Investigational Phase 4 1174395-19-7
44 Ixekizumab Approved, Investigational Phase 4 1143503-69-8
45
Bevacizumab Approved, Investigational Phase 4 216974-75-3
46
Cetuximab Approved Phase 4 205923-56-4 56842117 2333
47
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
48
Warfarin Approved Phase 4 81-81-2 6691 54678486
49
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
50
Evolocumab Approved Phase 4 1256937-27-5

Interventional clinical trials:

(show top 50) (show all 4352)
# Name Status NCT ID Phase Drugs
1 Immune Modulation Therapy for ERT-naïve or ERT-treated Pompe Disease Patients Unknown status NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
2 The Polysaccharide Antibody Response Study: Typhim Vi Response and Allohemagglutinins Versus Pneumovax 23 Vaccine Response in the Diagnosis of Specific Polysaccharide Antibody Deficiency Unknown status NCT02429531 Phase 4
3 A Study Comparing the Effectiveness of Two Different Vaccination Schedules of the Combined Hepatitis A and B Vaccine(Twinrix Adult1440/20) Unknown status NCT00216229 Phase 4
4 A Randomised Controlled Comparison of Campath-Tacrolimus vs IL2R MoAb-Tacrolimus/MMMF in Kidney Transplantation Unknown status NCT00246129 Phase 4 Alemtuzumab;Daclizumab
5 Persistence of Rabies Antibody 1-5 Years After the Post-exposure Prophylaxis With Vero Cell Antirabies Vaccine and Antibody Response to a Single Booster Dose Unknown status NCT01173302 Phase 4
6 Non-randomized Phase-IV-study to Investigate the Efficacy of FOLFIRI in Combination With Cetuximab in the First-line Treatment of Metastatic Colorectal Cancer Including a Regular Dermal Prophylaxis to Prevent Acneiforme Follicular Exanthema Unknown status NCT01315990 Phase 4 FOLFIRI + Cetuximab
7 Management of Active and Established Corneal Neovascularisation to Prevent Visual Impairment Unknown status NCT02594423 Phase 4 Bevacizumab
8 Research of Pure Red Cell Aplasia in Patients With Chronic Kidney Disease and in Use of Epoetin Alfa Produced by Immunobiological Technology Institute (Bio-Manguinhos) From Oswaldo Cruz Foundation (Bio-Manguinhos / Fiocruz) Unknown status NCT02648126 Phase 4
9 Random, Open-label Multicenter, Phase IV Study Assessing the Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Unknown status NCT02810808 Phase 4 Ranibizumab
10 Immune Intervention With Anti-CD20 Monoclonal Antibody to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4 rituximab
11 GLM Dose Optimisation to Adequate Levels to Achieve Response in Colitis (GOAL-ARC). A Nationwide Multi-centred Randomised Controlled Trial (RCT) Investigating the Use of GLM Dose Adjustment in Ulcerative Colitis (UC). Unknown status NCT02687724 Phase 4 Golimumab (GLM)
12 Assessment of Antibody Response of a Boosted Japanese Encephalitis Chimeric Virus Vaccine (JE-CV) in Children Previously Immunized With a Single Dose of JE-CV Unknown status NCT01954810 Phase 4
13 The Effects of Xolair (Omalizumab) on Airway Hyperresponsiveness Unknown status NCT00208234 Phase 4 Omalizumab;Placebo for Omalizumab;omalizumab
14 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Unknown status NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
15 Optimization of Golimumab Treatment in Ulcerative Colitis Unknown status NCT03669029 Phase 4 Golimumab 50 mg in patients <80 kg and Golimumab 100 mg in patients >80 kg;Golimumab treatment optimization.
16 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
17 Hepatitis B Virus (HBV) Antibody (Anti-HBs) Booster Program for the Production of Hepatitis B Immune Globulin (HBIG) Unknown status NCT01311674 Phase 4
18 Effect of Monoclonal Anti-IL6 Antibody (Tocilizumab) on the Cardiovascular Risk in Patients With Rheumatoid Arthritis Unknown status NCT01752335 Phase 4
19 A Phase IV, Single Center, Open-Label, Controlled, Randomized Study to Evaluate the Memory Response of Children Previously Vaccinated With Chiron Meningococcal C Conjugate Vaccine, Menjugate® and Describe the Kinetic of the Antibody Response and Maturation on Days 2-7 and 28 After Challenge With Pasteur Merieux Meningococcal A/C Polysaccharide Vaccine or Menjugate® Unknown status NCT00262015 Phase 4
20 Immunogenicity and Safety of 4- vs. 3-standard Doses HBV Vaccination in HIV-infected Adults With Isolated Anti-HBc Antibody Unknown status NCT03212911 Phase 4
21 A Phase 4, Randomized, Open-Label Study to Assess Humoral and Intestinal Polio Immunity Following a Three-Dose Trivalent Inactivated Polio Vaccine Schedule Relative to Two Sequential Schedules of IPV/Bivalent Oral Polio Vaccines Unknown status NCT01841671 Phase 4
22 Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Unknown status NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
23 Immune Modulation Study in Patients With Metastatic Melanoma Treated With Anti-PD1 Monoclonal Antibodies Unknown status NCT02626065 Phase 4 Nivolumab
24 Addition of Azathioprine to the Switch of Anti-TNF Drug in IBD Patients in Clinical Relapse With Undectectable Anti-TNF Trough Levels and Anti-drug Antibodies : a Prospective Randomized Trial Unknown status NCT03580876 Phase 4 addition of azathioprine;Switch to a second anti-TNF drug alone
25 Randomized-Double Blind Trial to Assess the Incidence and Clinical Relevance of Heparin-Induced Thrombocytopenia (HIT) Antibodies in Trauma Patients Treated With Unfractionated or Low-Molecular Weight Heparin, the HIT-TRAP Trial Unknown status NCT00196417 Phase 4 Standard heparin (UFH) versus certoparin (LMWH)
26 A Randomised Trial of an Additional Measles Vaccine at 4 Months of Age to Reduce Child Mortality and to Explore the Role of Maternal Measles Antibodies for the Beneficial Non-specific Effects of Measles Vaccine Unknown status NCT01486355 Phase 4
27 Use of Combined Measurements of Serum Infliximab and Anti-infliximab Antibodies in the Treatment of Patients With Crohns Disease Failing Infliximab Therapy Unknown status NCT00851565 Phase 4
28 Evaluation of the Effects of Sirolimus Addition to the Triple Immunosuppression Protocol on Peripheral Blood Lymphocytes and Development of Anti-HLA Antibodies in Sensitized Kidney Transplant Recipients - a Pilot Study Unknown status NCT02208791 Phase 4 Sirolimus;No intervention
29 A Multicentre, Open Label, Non-Comparative Trial Investigating the Recovering of INF-Beta Efficacy in Breakthrough Relapsing-Remitting Multiple Sclerosis Patients With Neutralizing Interferon-Beta Antibodies Completed NCT00492466 Phase 4 Interferon-beta-1a;methylprednisolone
30 A Study of the Safety and Efficacy of an Intravenous Immunoglobulin (Vigam® Liquid) in Patients With Primary or Secondary Antibody Deficiency. Completed NCT02247154 Phase 4
31 Correlates of HBV-Specific B Cell Memory Following Vaccination in HIV-Infected Adolescents and HIV-Uninfected Adolescents: A Substudy of ATN 024 and ATN 025 Completed NCT00142753 Phase 4
32 Short-Course Glucocorticoids and Rituximab in ANCA-Associated Vasculitis Completed NCT02169219 Phase 4 Glucocorticoids;Rituximab
33 The De-novo Use of Eculizumab Alongside Conventional Therapy in Presensitized Patients Receiving Cardiac Transplantation: An Open-Label, Investigator-Initiated Pilot Trial: [The DUET Cardiac Trial] Completed NCT02013037 Phase 4 Eculizumab
34 Rivaroxaban in Antiphospholipid Syndrome Pilot Study: A Multicenter Feasibility Study of Rivaroxaban for Patients With Antiphospholipid Syndrome and Prior Arterial or Venous Thrombosis Completed NCT02116036 Phase 4 Rivaroxaban
35 Non-interference and Safety of Concomitant Administration of Measles-rubella and Rotavirus Vaccines at 9 Months of Age in Rural Bangladesh Completed NCT01700621 Phase 4
36 A Prospective, Open-Label, Single-Arm Clinical Trial to Assess the Anti-Hepatitis A Virus (HAV) Antibody Levels, Pharmacokinetics, and Safety of a Single Intramuscular Dose of a Polyvalent Human Immune Globulin in HAV Seronegative Healthy Subjects Completed NCT03351933 Phase 4
37 Multicentre Double-blind Placebo-controlled Parallel-group Randomized Clinical Trial of Efficacy and Safety of Subetta in the Combined Treatment of Patients With Type II Diabetes Mellitus Completed NCT01868646 Phase 4 Subetta;Placebo
38 Multicentre Double-blind Placebo-controlled Parallel-group Randomized Clinical Trial of Efficacy and Safety of Subetta in the Combined Treatment of Patients With Type I Diabetes Mellitus Completed NCT01868594 Phase 4 Subetta;Placebo
39 An Open Multicentre, Multicountry Study to Evaluate Long-term Antibody Persistence and Immune Memory Between Years 11 and 15 After the Primary Study HAB-084 in Which Healthy Adolescents Were Vaccinated With Twinrix™ Adult Following a Two-dose Schedule or Twinrix™ Junior Following a Three-dose Schedule. Completed NCT00875485 Phase 4
40 Long-term Antibody Persistence of Hepatitis B Antibodies and Immune Response to a Hepatitis B Vaccine (Engerix-B Kinder) Challenge in Children Previously Vaccinated With Infanrix Hexa Vaccine Completed NCT01333813 Phase 4
41 Effects of the TNF-alpha Inhibiton on Blood Pressure, Hemodynamic Parameters and Biomarkers in Resistant Hypertension Completed NCT02743390 Phase 4
42 Pilot Study of the Safety and Efficacy of Quadrivalent Human Papillomavirus Vaccine (Gardasil®) in Female Subjects With Juvenile Idiopathic Arthritis (JIA)/ Seronegative Arthritis Completed NCT00573651 Phase 4
43 Duration of Immune Response to Influenza Vaccination in Patients With Rheumatoid Arthritis Receiving Treatment With Biologic Agents Completed NCT02311855 Phase 4
44 A Non-randomized, Open-label Study To Evaluate The Pharmacokinetics, Safety And Efficacy Of Refacto Af In Previously Treated Pediatric Subjects Less Than Twelve Years Of Age With Severe Hemophilia A (Fviii:c <1%). Completed NCT00914459 Phase 4
45 Sequential Natalizumab - Alemtuzumab Therapy in Patients With Relapsing Forms of Multiple Sclerosis (SUPPRESS) Completed NCT03135249 Phase 4 Alemtuzumab
46 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
47 An Open Label, Single Group Assignment Design Study to Correlate Soluble ST2 With Clinical, Endoscopic and Histological Activity in Moderate to Severe Ulcerative Colitis Patients Under Golimumab. Completed NCT02318667 Phase 4
48 Educate, Test and Treat Model Towards Elimination of Hepatitis C Infection in Egypt: Feasibility and Effectiveness in 73 Villages Completed NCT04177043 Phase 4 DAAs
49 A Phase 4 Trial Comparing the Efficacy of Subcutaneous Injections of Brodalumab to Oral Administrations of Fumaric Acid Esters in Adults With Moderate to Severe Plaque Psoriasis Completed NCT03331835 Phase 4 Fumaric acid esters
50 An Open-label, Prospective, Multicenter Study to Investigate the Specificity of in Vivo Antibody Binding to Red Blood Cells in Subjects With Chronic Immune Thrombocytopenic Purpura (ITP) Treated With IgPro10 (Privigen®) Who Have Shown Signs of Hemolysis Completed NCT01390649 Phase 4

Search NIH Clinical Center for Primary Agammaglobulinemia

Genetic Tests for Primary Agammaglobulinemia

Anatomical Context for Primary Agammaglobulinemia

MalaCards organs/tissues related to Primary Agammaglobulinemia:

40
Liver, Prostate, T Cells, Endothelial, Bone, Thyroid, Neutrophil

Publications for Primary Agammaglobulinemia

Articles related to Primary Agammaglobulinemia:

(show top 50) (show all 343)
# Title Authors PMID Year
1
Burton's Agammaglobulinemia and COVID-19. 61
33391934 2020
2
Immunoglobulin Deficiency as an Indicator of Disease Severity in Patients with COVID-19. 61
33237794 2020
3
Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome. 61
32866538 2020
4
Effect of Therapeutic Plasma Exchange on Immunoglobulin Deficiency in Early and Severe Septic Shock. 61
33063613 2020
5
Outcomes of Immunocompromised Adults Hospitalized With Laboratory-confirmed Influenza in the United States, 2011-2015. 61
31298691 2020
6
Recurrent Sinopulmonary Infections in a Patient Whose HIV Masked Common Variable Immunodeficiency. 61
31677106 2020
7
Presentation of a case of Bruton type primary agammaglobulinemia in Guinea. 61
33235662 2020
8
Clinical Features and Outcomes of Immunocompromised Children Hospitalized With Laboratory-Confirmed Influenza in the United States, 2011-2015. 61
30358877 2019
9
[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers]. 61
31967259 2019
10
A supramolecular sensor array for selective immunoglobulin deficiency analysis. 61
31495837 2019
11
Factors Beyond Lack of Antibody Govern Pulmonary Complications in Primary Antibody Deficiency. 61
31089938 2019
12
Precision health: treating the individual patient with chronic obstructive pulmonary disease. 61
30977152 2019
13
Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome. 61
31611883 2019
14
The effect of omalizumab treatment on IgE and other immunoglobulin levels in patients with chronic spontaneous urticaria and its association with treatment response. 61
30429712 2018
15
Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management. 61
29709555 2018
16
Vitamin D deficiency in children with recurrent respiratory infections, with or without immunoglobulin deficiency. 61
29128760 2018
17
Limited Innovations After More Than 65 Years of Immunoglobulin Replacement Therapy: Potential of IgA- and IgM-Enriched Formulations to Prevent Bacterial Respiratory Tract Infections. 61
30190722 2018
18
Coccidioidomycosis, immunoglobulin deficiency: safety challenges with CAR T cells therapy for relapsed lymphoma. 61
29032736 2017
19
Nodular Lymphoid Hyperplasia of the Gastrointestinal Tract : a comprehensive review. 61
29560671 2017
20
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. 61
28530713 2017
21
Mucosal-associated invariant T cells are depleted and functionally altered in patients with common variable immunodeficiency. 61
28011187 2017
22
Terminally differentiated memory T cells are increased in patients with common variable immunodeficiency and selective IgA deficiency. 61
29204088 2017
23
Risk factors and characteristics of blood stream infections in patients with newly diagnosed multiple myeloma. 61
28056867 2017
24
Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings. 61
29255463 2017
25
Importance of neonatal immunoglobulin transfer for hippocampal development and behaviour in the newborn pig. 61
28658291 2017
26
Association between common variable immunodeficiency and collagenous infiltrative disorders of the gastrointestinal tract: A series of four patients. 61
27053352 2016
27
Immunoglobulin deficiency in patients with chronic rhinosinusitis: Systematic review of the literature and meta-analysis. 61
26329513 2015
28
Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg? 61
26371035 2015
29
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. 61
25612912 2015
30
[Incidental discovery of an immunoglobulin deficiency]. 61
26027206 2015
31
[Haemophilus influenzae type b meningitis in a vaccinated, immunocompetent infant with reactive arthritis]. 61
25612943 2015
32
Treatment of giardiasis after nonresponse to nitroimidazole. 61
25271363 2014
33
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. 61
25122203 2014
34
Education and imaging. Gastrointestinal: Incidentally detected gastric carcinoma in patient with common variable immunoglobulin deficiency. 61
24832778 2014
35
Functional antipolysaccharide immunoglobulin deficiency, recurrent pneumococcal sepsis, and hypergammaglobulinemic purpura. 61
24607051 2014
36
Immunoglobulin deficiency in patients with Streptococcus pneumoniae or Haemophilus influenzae invasive infections. 61
24326288 2014
37
Prevention and control of haemophilus influenzae type b disease: recommendations of the advisory committee on immunization practices (ACIP). 61
24572654 2014
38
Phenotyping adults with non-cystic fibrosis bronchiectasis: a prospective observational cohort study. 61
23672995 2013
39
Selective IgA deficiency mimicking Churg-Strauss syndrome and hypereosinophilic syndrome: a case report. 61
23544278 2013
40
Systemic atopy and immunoglobulin deficiency in Turkish patients with vernal keratoconjunctivitis. 61
23323578 2013
41
Utility of blood culture in uncomplicated pneumonia in children. 61
23641172 2013
42
Bronchiolitis obliterans syndrome, hypogammaglobulinemia, and infectious complications of lung transplantation. 61
23260704 2013
43
Immunoglobulin A deficiency in celiac disease. 61
22476042 2012
44
[A genetic systemic disease: clinical description of type 1 myotonic dystrophy in adults]. 61
22572587 2012
45
CNS infections in patients with cancer. 61
22810134 2012
46
Severe atopic dermatitis and transient hypogammaglobulinemia in children. 61
21854413 2012
47
An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease. 61
22372173 2012
48
[Corynebacterium pseudodiphtheriticum causing severe pneumonia in secondary immunoglobulin deficiency]. 61
22109586 2011
49
Accumulation of B1-like B cells in transgenic mice over-expressing catalytically inactive RAG1 in the periphery. 61
22044391 2011
50
Immunoglobulin deficiency in children with Hib vaccine failure. 61
21983357 2011

Variations for Primary Agammaglobulinemia

ClinVar genetic disease variations for Primary Agammaglobulinemia:

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

Expression for Primary Agammaglobulinemia

Search GEO for disease gene expression data for Primary Agammaglobulinemia.

Pathways for Primary Agammaglobulinemia

Pathways related to Primary Agammaglobulinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 TNFRSF13C TNFRSF13B SYK SEC61A1
2
Show member pathways
12.76 TNFRSF13C TNFRSF13B SYK
3
Show member pathways
12.65 TNFRSF13C TNFRSF13B SYK
4 11.34 TNFRSF13C SYK
5
Show member pathways
11.2 TNFRSF13C TNFRSF13B SYK
6
Show member pathways
11.17 TNFRSF13C TNFRSF13B
7 10.98 TNFRSF13C TNFRSF13B
8 10.54 TNFRSF13C TNFRSF13B

GO Terms for Primary Agammaglobulinemia

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

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.16 TNFRSF13C TNFRSF13B
2 immune system process GO:0002376 9.13 TNFRSF13C TNFRSF13B SYK
3 adaptive immune response GO:0002250 8.8 TNFRSF13C TNFRSF13B SYK

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 8.62 TNFRSF13C TNFRSF13B

Sources for Primary Agammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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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
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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