Primary Agammaglobulinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

Sources

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:

Sources

Symptoms & Phenotypes for Primary Agammaglobulinemia

Sources

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

Sources

Genetic Tests for Primary Agammaglobulinemia

Sources

Anatomical Context for Primary Agammaglobulinemia

Organs/tissues related to Primary Agammaglobulinemia:

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

Sources

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	Warnatz K...Eibel H	19666484	2009
2	To switch or not to switch--the opposing roles of TACI in terminal B cell differentiation. ⁵³ ⁶²	Salzer U...Grimbacher B	17171762	2007
3	Immunoglobulin Deficiency and the Unified Airway. ⁶²	Makary CA...Lugar P	36266110	2023
4	Computational Analysis of Antibody Paratopes for Antibody Sequences in Antibody Libraries. ⁶²	Peng HP...Yang AS	36346607	2023
5	Bioinformatic Analysis of Natively Paired VH:VL Antibody Repertoires for Antibody Discovery. ⁶²	Fahad AS...DeKosky BJ	36346608	2023
6	Improvement of Anti-CD36 Antibody Detection via Monoclonal Antibody Immobilization of Platelet Antigens Assay by Using Selected Monoclonal Antibodies. ⁶²	Xu X...Fu Y	36045061	2023
7	Safety of and antibody response to the BNT162b2 COVID-19 vaccine in adolescents and young adults with underlying disease. ⁶²	Shoji K...Miyairi I	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	Kaneko H...Tsuboi H	36116693	2023
9	A nasal omicron vaccine booster elicits potent neutralizing antibody response against emerging SARS-CoV-2 variants. ⁶²	Lam JY...Kok KH	35275039	2022
10	Post-vaccination SARS-CoV-2 antibody kinetics and protection duration against Omicron in elderly population. ⁶²	Dimeglio C...Izopet J	36064047	2022
11	A new testing platform using fingerstick blood for quantitative antibody response evaluation after SARS-CoV-2 vaccination. ⁶²	Du J...Sha MY	34951566	2022
12	Resistance of SARS-CoV-2 omicron subvariant BA.4.6 to antibody neutralisation. ⁶²	Wang Q...Ho DD	36328002	2022
13	Peptide microarrays coupled to machine learning reveal individual epitopes from human antibody responses with neutralizing capabilities against SARS-CoV-2. ⁶²	Hotop SK...Bronstrup M	35320064	2022
14	A monoclonal antibody that neutralizes SARS-CoV-2 variants, SARS-CoV, and other sarbecoviruses. ⁶²	Wang P...Ho DD	34836485	2022
15	Bronchiectasis and obstructive lung diseases in primary antibody deficiencies and beyond: update on management and pathomechanisms. ⁶²	Hanitsch LG	36165423	2022
16	Lung directed antibody gene transfer confers protection against SARS-CoV-2 infection. ⁶²	Du Y...Hyde SC	35165144	2022
17	Antibody-mediated autoimmune encephalitis evaluated by 18F-DPA714 PET/MRI. ⁶²	Shen R...Chen S	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	Jonczyk R...Blume C	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	Kawakami T...Ishizu A	35876151	2022
20	Anti-PLA2R antibody measured by ELISA predicts the risk of vein thrombosis in patients with primary membranous nephropathy. ⁶²	Zhu H...Yang X	35380081	2022
21	Behaviour of the model antibody fluid constrained by rigid spherical obstacles: Effects of the obstacle-antibody attraction. ⁶²	Hvozd T...Vlachy V	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	Mayer KA...Bohmig GA	36382130	2022
23	The effect of the BNT162b2 vaccine on antinuclear antibody and antiphospholipid antibody levels. ⁶²	Noureldine HA...Mokhbat JE	35978253	2022
24	Disitamab vedotin: a novel antibody-drug conjugates for cancer therapy. ⁶²	Shi F...Zhang M	35506447	2022
25	"Titer of anti-HBs in health professions trainees: prevalence of antibody coverage in a University of Central Italy". ⁶²	Di Giampaolo L...Mangifesta R	34166177	2022
26	The Challenging but Imperative Path to Monoclonal Antibody Use Against COVID-19 for a Small Overseas Military Hospital. ⁶²	Shirk S...Paz DA	33993282	2022
27	Selection of a PD-1 blocking antibody from a novel fully human phage display library. ⁶²	Peissert F...Neri D	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	Lee J...Kim SH	36223860	2022
29	Characterization of the enhanced infectivity and antibody evasion of Omicron BA.2.75. ⁶²	Cao Y...Wang X	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	DeCotes D...Hicar MD	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	Jugler C...Chen Q	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	Pan Y...Li Y	36443279	2022
34	Specific antibody deficiency to pneumococcal polysaccharide in a young adult with recurrent respiratory infections: a case report. ⁶²	Ishimaru N...Ohnishi H	36382810	2022
35	Specific antibody deficiency: pearls and pitfalls for diagnosis. ⁶²	Lawrence MG...Borish L	35671934	2022
36	An Expert Opinion/Approach: Clinical Presentations, Diagnostic Considerations, and Therapeutic Options for Gastrointestinal Manifestations of Common Variable Immune Deficiency. ⁶²	Hashash JG...Farraye FA	36148549	2022
37	Primary antibody deficiencies represent an underestimated comorbidity in asthma patients: efficacy of immunoglobulin replacement therapy in asthma control. ⁶²	Vivarelli E...Vultaggio A	36282045	2022
38	Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling. ⁶²	Yang L...Zhao X	35849269	2022
39	Antibody Response to HML-2 May Be Protective in Amyotrophic Lateral Sclerosis. ⁶²	Garcia-Montojo M...Nath A	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	Schmierer K...Boschert U	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	Valanparambil RM...Ahmed R	35759727	2022
42	Bipolar silica nanochannel array confined electrochemiluminescence for ultrasensitive detection of SARS-CoV-2 antibody. ⁶²	Gong J...Liu J	35870336	2022
43	Narrative Review of Anti-CD3 Antibody and Anti-CD20 Antibody: Immunotherapeutic Strategies to Treat and Prevent Type 1 Diabetes. ⁶²	Kashalikar P...Bhonde R	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	D'Souza A...Kumar S	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	Regidor BS...Berenson JR	36367357	2022
46	Anti-GD2 antibody for radiopharmaceutical imaging of osteosarcoma. ⁶²	Fu Y...Sgouros G	35809088	2022
47	T cell deficiency precipitates antibody evasion and emergence of neurovirulent polyomavirus. ⁶²	Lauver MD...Lukacher AE	36341713	2022
48	Clinical Outcomes, Immunogenicity, and Safety of BNT162b2 Vaccine in Primary Antibody Deficiency. ⁶²	Milota T...Kalina T	36379409	2022
49	Kinetics of immune responses elicited after three mRNA COVID-19 vaccine doses in predominantly antibody-deficient individuals. ⁶²	Ainsua-Enrich E...Carrillo J	36320330	2022
50	Changes in anti-MDA5 antibody titres and serum cytokine levels before and after diagnosis of anti-MDA5 antibody-positive dermatomyositis. ⁶²	Kogami M...Tamura N	36326436	2022

Sources

Genes for Primary Agammaglobulinemia

Genes related to Primary Agammaglobulinemia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNFRSF13C	TNF Receptor Superfamily Member 13C	Protein Coding	10.15	Novoseek inferred ⁵³	19666484
2	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	9.91	Novoseek inferred ⁵³	17171762

Sources

Variations for Primary Agammaglobulinemia

Sources

Expression for Primary Agammaglobulinemia

Search GEO for disease gene expression data for Primary Agammaglobulinemia.

Sources

Pathways for Primary Agammaglobulinemia

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

#	Super pathways	Score	Top Affiliating Genes
1	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	11.5	TNFRSF13C TNFRSF13B
2	BAFF in B-Cell Signaling ⁶⁴ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶⁴ RANK Pathway ⁶⁴ RANK Signaling in Osteoclasts ⁶⁴	10.91	TNFRSF13C TNFRSF13B

Sources

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

Sources for Primary Agammaglobulinemia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PRM038 MIFTS: 42	Primary Agammaglobulinemia Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Drugs Expand all tables