MCID: PRM038
MIFTS: 42

Primary Agammaglobulinemia

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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Aliases & Classifications for Primary Agammaglobulinemia

MalaCards integrated aliases for Primary Agammaglobulinemia:

Name: Primary Agammaglobulinemia 19 75 75
Antibody Deficiency Syndrome 53 71
Immunoglobulin Deficiency 19 71
Antibody Deficiency with Near-Normal Immunoglobulins or with Hyperimmunoglobulinaemia 33
Immunoglobulin Deficiency with Near-Normal Immunoglobins 33
Immunoglobulin Deficiency with Hyperimmunoglobulinaemia 33
Antibody Immunodeficiency with Hyperimmunoglobulinaemia 33
Antibody Deficiency with Hyperimmunoglobulinaemia 33
Gammaglobulin Deficiency 19
Antibody Deficiency 19
Antibody 16

Classifications:



External Ids:

ICD10 31 D80.6 Y59.3
ICD11 33 29897844
UMLS 71 C0003257 C0745242

Summaries for Primary Agammaglobulinemia

GARD: 19 A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.

MalaCards based summary: Primary Agammaglobulinemia, also known as antibody deficiency syndrome, is related to immunodeficiency, common variable, 2 and immunodeficiency with hyper-igm, type 3. An important gene associated with Primary Agammaglobulinemia is TNFRSF13C (TNF Receptor Superfamily Member 13C), and among its related pathways/superpathways are TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions and BAFF in B-Cell Signaling. The drugs Heptavalent Pneumococcal Conjugate Vaccine and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone marrow.

Wikipedia: 75 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 8a, Autosomal Dominant
Agammaglobulinemia 9, Autosomal Recessive Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia 8b, Autosomal Recessive Agammaglobulinemia 7
Agammaglobulinemia 8a Agammaglobulinemia 9
Agammaglobulinemia 10 Agammaglobulinemia 8b
Primary Agammaglobulinemia

Diseases related to Primary Agammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3924)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 2 31.8 TNFRSF13C TNFRSF13B
2 immunodeficiency with hyper-igm, type 3 30.9 TNFRSF13C TNFRSF13B
3 immunoglobulin alpha deficiency 30.2 TNFRSF13C TNFRSF13B
4 immunodeficiency with hyper-igm, type 1 29.8 TNFRSF13C TNFRSF13B
5 macroglobulinemia 29.6 TNFRSF13C TNFRSF13B
6 cd40 ligand deficiency 29.5 TNFRSF13C TNFRSF13B
7 selective igg deficiency disease 29.4 TNFRSF13C TNFRSF13B
8 transient hypogammaglobulinemia 29.4 TNFRSF13C TNFRSF13B
9 leukemia, chronic lymphocytic 29.4 TNFRSF13C TNFRSF13B
10 autoimmune disease 29.3 TNFRSF13C TNFRSF13B
11 common variable immunodeficiency 29.3 TNFRSF13C TNFRSF13B
12 transient hypogammaglobulinemia of infancy 29.2 TNFRSF13C TNFRSF13B
13 good syndrome 29.2 TNFRSF13C TNFRSF13B
14 b cell deficiency 29.1 TNFRSF13C TNFRSF13B
15 lymphoid interstitial pneumonia 29.1 TNFRSF13C TNFRSF13B
16 follicular lymphoma 29.0 TNFRSF13C TNFRSF13B
17 lymphoma, non-hodgkin, familial 28.9 TNFRSF13C TNFRSF13B
18 familial cold autoinflammatory syndrome 3 11.7
19 specific antibody deficiency 11.7
20 autoinflammation, antibody deficiency, and immune dysregulation 11.6
21 antiphospholipid syndrome 11.6
22 immunodeficiency, common variable, 1 11.5
23 immunodeficiency, common variable, 3 11.5
24 warm antibody hemolytic anemia 11.4
25 roifman syndrome 11.4
26 immunodeficiency, common variable, 4 11.4
27 immunodeficiency, common variable, 6 11.4
28 immunodeficiency, common variable, 5 11.4
29 alopecia antibody deficiency 11.4
30 goodpasture syndrome 11.3
31 immune deficiency disease 11.3
32 selective immunoglobulin deficiency disease 11.3
33 cold agglutinin disease 11.2
34 pemphigus vulgaris, familial 11.2
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 b-cell expansion with nfkb and t-cell anergy 11.1
39 adrenocortical carcinoma, hereditary 11.1
40 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis 11.1
41 anti-pit-1 antibody syndrome 11.1
42 pauci-immune glomerulonephritis without anca 11.0
43 miller fisher syndrome 11.0
44 lichtenstein syndrome 11.0
45 t-cell acute lymphoblastic leukemia 11.0
46 immunodeficiency, common variable, 13 11.0
47 immunodeficiency 62 11.0
48 histiocytosis-lymphadenopathy plus syndrome 11.0
49 arthus reaction 11.0
50 monoclonal gammopathy of uncertain significance 11.0

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



Diseases related to Primary Agammaglobulinemia

Symptoms & Phenotypes for Primary Agammaglobulinemia

Drugs & Therapeutics for Primary Agammaglobulinemia

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
2 Immunologic Factors Phase 4
3 Immunoglobulins, Intravenous Phase 4
4 Immunoglobulins Phase 4
5 Antibodies Phase 4
6 gamma-Globulins Phase 4
7 Rho(D) Immune Globulin Phase 4
8 Immunoglobulin A Phase 3
9 Pharmaceutical Solutions Phase 3
10 Vaccines Phase 1, Phase 2
11 Immunoglobulin G Phase 1
12 Complement System Proteins

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Switched Memory B-cells as a Marker for Humoral Immune System Recovery in Patients With Secondary Antibody Deficiency Due to Hematological Malignancies Not yet recruiting NCT05612607 Phase 4 Immunoglobulin replacement therapy (IGRT)
4 A Prospective Study of the Utility of Spirometry to Identify and Manage Immunoglobulin Replacement Dosage in Primary Antibody Deficiency in Patients With Potentially Reversible Airway Disease Not yet recruiting NCT05193552 Phase 4 Hizentra
5 Effect of Early Oral Colostrum Administration Versus Placebo on the Immune System in Premature Newborns Under 32 Weeks of Gestation: A Randomized Clinical Trial. Unknown status NCT03578341 Phase 3
6 A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Given Via the Subcutaneous Route in Primary Antibody Deficient Patients. Completed NCT02247141 Phase 3
7 Multicenter, Open-label, Historically Controlled, Phase III Study to Assess the Efficacy, Tolerability, Safety and Pharmacokinetics of Kedrion IVIG 10% in Adult and Pediatric Subjects With Primary Immunodeficiency (PID). Completed NCT01581593 Phase 3
8 B-pVAC-SARS-CoV-2: Phase I/II Multicenter Safety and Immunogenicity Trial of Multi-peptide Vaccination to Prevent COVID-19 Infection in Adults With Bcell/ Antibody Deficiency Active, not recruiting NCT04954469 Phase 1, Phase 2
9 The Influence of Body Composition on Immunoglobulin Disposition After Intravenous and Subcutaneous Administration Recruiting NCT05584631 Phase 1 Intravenous immune globulin G;Subcutaneous immune globulin G
10 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689
11 Construction and Validation of a Health-related Quality of Life (HR-QOL) Instrument for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
12 Immunoglobulin Deficiency a Treatable Cause of Fatigue in Patients With Multiple Sclerosis (MS)? - A Prospective Observational Fatigue Trial Recruiting NCT05357781
13 Systematic Search for Primary Immunodeficiency in Adults With Unexplained Recurrent and/or Severe Infections With Encapsulated Bacteria Terminated NCT02972281
14 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399

Search NIH Clinical Center for Primary Agammaglobulinemia

Genetic Tests for Primary Agammaglobulinemia

Anatomical Context for Primary Agammaglobulinemia

Organs/tissues related to Primary Agammaglobulinemia:

MalaCards : B Cells, T Cells, Bone Marrow, Neutrophil, Lung, Myeloid, Breast

Publications for Primary Agammaglobulinemia

Articles related to Primary Agammaglobulinemia:

(show top 50) (show all 31430)
# Title Authors PMID Year
1
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. 53 62
19666484 2009
2
To switch or not to switch--the opposing roles of TACI in terminal B cell differentiation. 53 62
17171762 2007
3
Immunoglobulin Deficiency and the Unified Airway. 62
36266110 2023
4
Computational Analysis of Antibody Paratopes for Antibody Sequences in Antibody Libraries. 62
36346607 2023
5
Bioinformatic Analysis of Natively Paired VH:VL Antibody Repertoires for Antibody Discovery. 62
36346608 2023
6
Improvement of Anti-CD36 Antibody Detection via Monoclonal Antibody Immobilization of Platelet Antigens Assay by Using Selected Monoclonal Antibodies. 62
36045061 2023
7
Safety of and antibody response to the BNT162b2 COVID-19 vaccine in adolescents and young adults with underlying disease. 62
36152928 2023
8
Depressive symptoms predict antibody titers after a second dose of the SARS-CoV-2 BNT162b2 vaccine among hospital workers in Japan. 62
36116693 2023
9
A nasal omicron vaccine booster elicits potent neutralizing antibody response against emerging SARS-CoV-2 variants. 62
35275039 2022
10
Post-vaccination SARS-CoV-2 antibody kinetics and protection duration against Omicron in elderly population. 62
36064047 2022
11
A new testing platform using fingerstick blood for quantitative antibody response evaluation after SARS-CoV-2 vaccination. 62
34951566 2022
12
Resistance of SARS-CoV-2 omicron subvariant BA.4.6 to antibody neutralisation. 62
36328002 2022
13
Peptide microarrays coupled to machine learning reveal individual epitopes from human antibody responses with neutralizing capabilities against SARS-CoV-2. 62
35320064 2022
14
A monoclonal antibody that neutralizes SARS-CoV-2 variants, SARS-CoV, and other sarbecoviruses. 62
34836485 2022
15
Bronchiectasis and obstructive lung diseases in primary antibody deficiencies and beyond: update on management and pathomechanisms. 62
36165423 2022
16
Lung directed antibody gene transfer confers protection against SARS-CoV-2 infection. 62
35165144 2022
17
Antibody-mediated autoimmune encephalitis evaluated by 18F-DPA714 PET/MRI. 62
36267833 2022
18
Comparison of two antibody screening systems for SARS-CoV-2 antibody detection in recovered and vaccinated subjects - test performance and possible indicators for immunity. 62
36279696 2022
19
Typical cutaneous small-vessel vasculitis induced by combined injection of antiphosphatidylserine/prothrombin complex antibody and anti-LAMP-2 antibody in normal rats. 62
35876151 2022
20
Anti-PLA2R antibody measured by ELISA predicts the risk of vein thrombosis in patients with primary membranous nephropathy. 62
35380081 2022
21
Behaviour of the model antibody fluid constrained by rigid spherical obstacles: Effects of the obstacle-antibody attraction. 62
36426679 2022
22
Anti-interleukin-6 Antibody Clazakizumab in Antibody-mediated Kidney Transplant Rejection: Effect on Donor-derived Cell-free DNA and C-X-C Motif Chemokine Ligand 10. 62
36382130 2022
23
The effect of the BNT162b2 vaccine on antinuclear antibody and antiphospholipid antibody levels. 62
35978253 2022
24
Disitamab vedotin: a novel antibody-drug conjugates for cancer therapy. 62
35506447 2022
25
"Titer of anti-HBs in health professions trainees: prevalence of antibody coverage in a University of Central Italy". 62
34166177 2022
26
The Challenging but Imperative Path to Monoclonal Antibody Use Against COVID-19 for a Small Overseas Military Hospital. 62
33993282 2022
27
Selection of a PD-1 blocking antibody from a novel fully human phage display library. 62
36317676 2022
28
No correlation of neutralizing antibody titers against the Omicron variant after a booster dose of COVID-19 vaccines with subsequent breakthrough Omicron infections among healthcare workers. 62
36223860 2022
29
Characterization of the enhanced infectivity and antibody evasion of Omicron BA.2.75. 62
36270286 2022
30
Highly mutated monoclonal antibody 3F2 targets a conformational and strain-restricted epitope in human immunodeficiency virus gp41 with significant antibody-dependent cell cytotoxicity. 62
35871426 2022
31
Correction: Phase I/II clinical trial of a helper peptide vaccine plus PD-1 blockade in PD-1 antibody-naïve and PD-1 antibody-experienced patients with melanoma (MEL64). 62
36332930 2022
32
A novel plant-made monoclonal antibody enhances the synergetic potency of an antibody cocktail against the SARS-CoV-2 Omicron variant. 62
36403203 2022
33
The third inactivated vaccine booster dramatically enhanced SARS-CoV-2 antibody responses and did not influence the profile of prothrombotic antibody. 62
36443279 2022
34
Specific antibody deficiency to pneumococcal polysaccharide in a young adult with recurrent respiratory infections: a case report. 62
36382810 2022
35
Specific antibody deficiency: pearls and pitfalls for diagnosis. 62
35671934 2022
36
An Expert Opinion/Approach: Clinical Presentations, Diagnostic Considerations, and Therapeutic Options for Gastrointestinal Manifestations of Common Variable Immune Deficiency. 62
36148549 2022
37
Primary antibody deficiencies represent an underestimated comorbidity in asthma patients: efficacy of immunoglobulin replacement therapy in asthma control. 62
36282045 2022
38
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling. 62
35849269 2022
39
Antibody Response to HML-2 May Be Protective in Amyotrophic Lateral Sclerosis. 62
36053951 2022
40
Varicella zoster virus and influenza vaccine antibody titres in patients from MAGNIFY-MS who were treated with cladribine tablets for highly active relapsing multiple sclerosis. 62
35672923 2022
41
Antibody Response to COVID-19 mRNA Vaccine in Patients With Lung Cancer After Primary Immunization and Booster: Reactivity to the SARS-CoV-2 WT Virus and Omicron Variant. 62
35759727 2022
42
Bipolar silica nanochannel array confined electrochemiluminescence for ultrasensitive detection of SARS-CoV-2 antibody. 62
35870336 2022
43
Narrative Review of Anti-CD3 Antibody and Anti-CD20 Antibody: Immunotherapeutic Strategies to Treat and Prevent Type 1 Diabetes. 62
36415095 2022
44
A Phase I First-in-Human Study of ABBV-383, a B-Cell Maturation Antigen × CD3 Bispecific T-Cell Redirecting Antibody, in Patients With Relapsed/Refractory Multiple Myeloma. 62
36029527 2022
45
Efficacy of venetoclax plus anti-CD38 monoclonal antibody-containing therapies among t(11;14) positive multiple myeloma patients regardless of timing of prior treatment with this antibody. 62
36367357 2022
46
Anti-GD2 antibody for radiopharmaceutical imaging of osteosarcoma. 62
35809088 2022
47
T cell deficiency precipitates antibody evasion and emergence of neurovirulent polyomavirus. 62
36341713 2022
48
Clinical Outcomes, Immunogenicity, and Safety of BNT162b2 Vaccine in Primary Antibody Deficiency. 62
36379409 2022
49
Kinetics of immune responses elicited after three mRNA COVID-19 vaccine doses in predominantly antibody-deficient individuals. 62
36320330 2022
50
Changes in anti-MDA5 antibody titres and serum cytokine levels before and after diagnosis of anti-MDA5 antibody-positive dermatomyositis. 62
36326436 2022

Variations for Primary Agammaglobulinemia

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
11.5 TNFRSF13C TNFRSF13B
2
Show member pathways
10.91 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 immune system process GO:0002376 8.96 TNFRSF13C TNFRSF13B
2 adaptive immune response GO:0002250 8.92 TNFRSF13C TNFRSF13B

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 8.92 TNFRSF13C TNFRSF13B

Sources for Primary Agammaglobulinemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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