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MCID: PRM038
MIFTS: 32

Primary Agammaglobulinemia

Categories: Rare diseases, Immune diseases, Genetic diseases, Blood diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Primary Agammaglobulinemia

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MalaCards integrated aliases for Primary Agammaglobulinemia:

Name: Primary Agammaglobulinemia 53
Antibody Deficiency Syndrome 55 73
Immunoglobulin Deficiency 53 73
Gammaglobulin Deficiency 53
Antibody Deficiency 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

ICD10 33 D80.6 Y59.3
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Summaries for Primary Agammaglobulinemia

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MalaCards based summary : Primary Agammaglobulinemia, also known as antibody deficiency syndrome, is related to immunodeficiency, common variable, 2 and common variable immunodeficiency. An important gene associated with Primary Agammaglobulinemia is TNFRSF13C (TNF Receptor Superfamily Member 13C), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Allograft rejection. The drugs Sulfamethoxazole and Trimethoprim have been mentioned in the context of this disorder. Affiliated tissues include b cells.

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Related Diseases for Primary Agammaglobulinemia

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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 59)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 2 31.5 TNFRSF13B TNFRSF13C
2 common variable immunodeficiency 31.0 TNFRSF13B TNFRSF13C
3 specific antibody deficiency 12.3
4 autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated 12.3
5 selective immunoglobulin deficiency disease 12.0
6 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis 11.9
7 alopecia antibody deficiency 11.9
8 familial cold autoinflammatory syndrome 3 11.7
9 immunodeficiency, common variable, 1 11.6
10 immunodeficiency, common variable, 3 11.6
11 roifman syndrome 11.5
12 immunodeficiency, common variable, 4 11.5
13 immunodeficiency, common variable, 5 11.5
14 immunodeficiency, common variable, 6 11.5
15 dysgammaglobulinemia 11.1
16 immunoglobulin a deficiency 1 11.1
17 autoimmune lymphoproliferative syndrome, type iii 10.8
18 immunodeficiency, common variable, 11 10.8
19 immunodeficiency 36 10.8
20 immunodeficiency, common variable, 12 10.8
21 immunodeficiency, common variable, 13 10.8
22 immunoglobulin alpha deficiency 10.8
23 immunodeficiency, common variable, 7 10.8
24 agammaglobulinemia 10.0
25 diarrhea 9.7
26 arthritis 9.7
27 hepatitis 9.7
28 amyloidosis 9.7
29 hepatic veno-occlusive disease 9.7
30 cryptococcal meningitis 9.5 TNFRSF13B TNFRSF13C
31 b cell deficiency 9.4 TNFRSF13B TNFRSF13C
32 ataxia-telangiectasia 9.4
33 candidiasis 9.4
34 cartilage-hair hypoplasia 9.4
35 chronic mucocutaneous candidiasis 9.4
36 mulibrey nanism 9.4
37 netherton syndrome 9.4
38 gingivitis 9.4
39 combined immunodeficiency, x-linked 9.4
40 poliomyelitis 9.4
41 asthma 9.4
42 complement component 4, partial deficiency of 9.4
43 influenza 9.4
44 chromosome 16p13.3 deletion syndrome, proximal 9.4
45 lupus erythematosus 9.4
46 chromosome 18p deletion syndrome 9.4
47 liver disease 9.4
48 psoriasis 9.4
49 systemic lupus erythematosus 9.4
50 severe combined immunodeficiency 9.4

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



Diseases related to Primary Agammaglobulinemia
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Symptoms & Phenotypes for Primary Agammaglobulinemia

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Drugs & Therapeutics for Primary Agammaglobulinemia

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sulfamethoxazole Approved Phase 4 723-46-6 5329
2
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
3
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
6 Vaccines Phase 4,Not Applicable
7 Antibodies Phase 4,Phase 3,Not Applicable
8 Immunoglobulins Phase 4,Phase 3,Not Applicable
9 Immunoglobulins, Intravenous Phase 4,Phase 3,Not Applicable
10 Renal Agents Phase 4
11 Rho(D) Immune Globulin Phase 4,Phase 3,Not Applicable
12 gamma-Globulins Phase 4,Phase 3,Not Applicable
13 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
14 Anti-Bacterial Agents Phase 4
15 Vitamin B Complex Phase 4
16 Antibiotics, Antitubercular Phase 4
17 Anti-Infective Agents Phase 4
18 Antiparasitic Agents Phase 4
19 Antiprotozoal Agents Phase 4
20 Antitubercular Agents Phase 4
21 Antimalarials Phase 4
22 Folate Nutraceutical Phase 4
23 Vitamin B9 Nutraceutical Phase 4
24 Pharmaceutical Solutions Phase 3
25 Immunoglobulin G Phase 3
26
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
27
Palivizumab Approved, Investigational 188039-54-5
28 tannic acid Approved, Nutraceutical Not Applicable
29 Antiviral Agents
30 Complement System Proteins Not Applicable

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Polysaccharide Antibody Response Study Unknown status NCT02429531 Phase 4
2 A Study of the Safety and Efficacy of Vigam® Liquid in Patients With Primary or Secondary Antibody Deficiency Completed NCT02247154 Phase 4
3 Treatment of Deficient Subclass or Anti-polysaccharide Antibody Response Completed NCT00522821 Phase 4 intravenous immunoglobulins;antibiotics
4 IgG Level in Primary Immunodeficiency Switching From Standard SCIG to Every Other Week HyQvia Recruiting NCT02881437 Phase 4 IgHy10
5 Efficacy and Safety Study of Kedrion IVIG 10% to Treat Subjects With Primary Immunodeficiency (PID) Unknown status NCT01581593 Phase 3
6 A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Completed NCT02247141 Phase 3
7 Pharmacokinetics, Efficacy, and Safety Study of RI-002 (IGIV) in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01814800 Phase 3
8 Subcutaneous Ig NextGen 16% in PID Patients Completed NCT00391131 Phase 3 IgNextGen 16%
9 Open Label, Phase III Study of NABI-IGIV 10% [Immune Globulin Intravenous(Human), 10%] In Subjects With Primary Immune Deficiency Disorders (PIDD) Completed NCT00538915 Phase 3
10 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
11 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
12 Oral Colostrum and Its Effect on Immune System Recruiting NCT03578341 Phase 3
13 Evaluate Bacteriophage as a Useful Immunogen in Patients With Primary Immune Deficiency Diseases (PIDD) Unknown status NCT01617122 Not Applicable
14 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401 Not Applicable
15 Construction of a Health-related Quality of Life (HR-QOL) Questionnaire for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
16 Synagis® Liquid 50mg, 100mg for Intramuscular Injection Special Investigation in Immunocompromised Children With Synagis® Completed NCT02016690
17 Improving the Diagnosis of Common Variable Immune Deficiency Recruiting NCT03335605
18 Systematic Search for Primary Immunodeficiency in Adults With Infections Recruiting NCT02972281 Not Applicable
19 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Active, not recruiting NCT03211689 Not Applicable
20 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399 Not Applicable

Search NIH Clinical Center for Primary Agammaglobulinemia

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Genetic Tests for Primary Agammaglobulinemia

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Anatomical Context for Primary Agammaglobulinemia

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MalaCards organs/tissues related to Primary Agammaglobulinemia:

41
B Cells
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Publications for Primary Agammaglobulinemia

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Articles related to Primary Agammaglobulinemia:

(show all 11)
# Title Authors Year
1
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes. ( 27123465 )
2016
2
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. ( 20538026 )
2010
3
Hepatic veno-occlusive disease and human herpes virus 7 infection in primary agammaglobulinemia. ( 19150678 )
2009
4
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. ( 19666484 )
2009
5
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. ( 18981294 )
2009
6
An antibody-deficiency syndrome due to mutations in the CD19 gene. ( 16672701 )
2006
7
Arthritis associated with primary agammaglobulinemia: new clues to its immunopathology. ( 8453802 )
1993
8
Absence of B lymphocytes in a horse with primary agammaglobulinemia. ( 1084248 )
1976
9
Amyloidosis associated with primary agammaglobulinemia, severe diarrhea and familial hypogammaglobulinemia. ( 4182999 )
1969
10
Defective RNA Synthesis in Lymphocytes from Patients with Primary Agammaglobulinemia. ( 17751856 )
1965
11
A new entity of antibody deficiency syndrome, to which "congenital dysgammaglobulinemia" might be suggested. ( 13918869 )
1961
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Variations for Primary Agammaglobulinemia

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Expression for Primary Agammaglobulinemia

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Search GEO for disease gene expression data for Primary Agammaglobulinemia.
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Pathways for Primary Agammaglobulinemia

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

# Super pathways Score Top Affiliating Genes
1
Development Angiotensin activation of ERK 22
Show member pathways
 12.02 TNFRSF13B TNFRSF13C
2
Allograft rejection 1 37
Show member pathways
 11.9 TNFRSF13B TNFRSF13C
3
RANK Signaling in Osteoclasts 64
Show member pathways
 11.35 TNFRSF13B TNFRSF13C
4
Primary immunodeficiency 37
10.19 TNFRSF13B TNFRSF13C
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GO Terms for Primary Agammaglobulinemia

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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 9.26 TNFRSF13B TNFRSF13C
2 adaptive immune response GO:0002250 9.16 TNFRSF13B TNFRSF13C
3 tumor necrosis factor-mediated signaling pathway GO:0033209 8.96 TNFRSF13B TNFRSF13C
4 B cell homeostasis GO:0001782 8.62 TNFRSF13B TNFRSF13C
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Sources for Primary Agammaglobulinemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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