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MCID: PRM038
MIFTS: 36

Primary Agammaglobulinemia

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare 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 Trimethoprim and Sulfamethoxazole have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and lung.

Wikipedia : 76 Hypogammaglobulinemia is a type of primary immunodeficiency disease in which not enough gamma globulins... more...

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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 124)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 2 32.3 TNFRSF13B TNFRSF13C
2 common variable immunodeficiency 32.0 TNFRSF13B TNFRSF13C
3 macroglobulinemia 29.2 TNFRSF13B TNFRSF13C
4 systemic lupus erythematosus 28.8 TNFRSF13B TNFRSF13C
5 specific antibody deficiency 12.5
6 autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated 12.5
7 selective immunoglobulin deficiency disease 12.1
8 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis 12.0
9 alopecia antibody deficiency 12.0
10 familial cold autoinflammatory syndrome 3 11.8
11 immunodeficiency, common variable, 1 11.8
12 immunodeficiency, common variable, 3 11.7
13 immunodeficiency, common variable, 4 11.7
14 immunodeficiency, common variable, 5 11.7
15 immunodeficiency, common variable, 6 11.7
16 roifman syndrome 11.7
17 immunoglobulin alpha deficiency 11.2
18 immunoglobulin a deficiency 1 11.2
19 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.1
20 immunodeficiency-centromeric instability-facial anomalies syndrome 2 11.1
21 lichtenstein syndrome 11.0
22 trichothiodystrophy 5, nonphotosensitive 11.0
23 selective igm deficiency disease 11.0
24 immunodeficiency-centromeric instability-facial anomalies syndrome 11.0
25 immunodeficiency, common variable, 7 10.9
26 autoimmune lymphoproliferative syndrome, type iii 10.9
27 immunodeficiency, common variable, 11 10.9
28 immunodeficiency 36 10.9
29 immunodeficiency, common variable, 12 10.9
30 immunodeficiency, common variable, 13 10.9
31 agammaglobulinemia 10.2
32 cryptococcal meningitis 9.9 TNFRSF13B TNFRSF13C
33 b cell deficiency 9.8 TNFRSF13B TNFRSF13C
34 lymphoma, non-hodgkin, familial 9.8 TNFRSF13B TNFRSF13C
35 pernicious anemia 9.8
36 arthritis 9.8
37 hepatic veno-occlusive disease 9.8
38 diarrhea 9.8
39 amyloidosis 9.8
40 digeorge syndrome 9.8
41 bronchiectasis 9.8
42 autoimmune disease 9.8 TNFRSF13B TNFRSF13C
43 leukemia, chronic lymphocytic 9.8 TNFRSF13B TNFRSF13C
44 complement component 2 deficiency 9.7
45 agammaglobulinemia, x-linked 9.7
46 t cell deficiency 9.7
47 hepatitis 9.6
48 hepatitis e 9.6
49 kabuki syndrome 1 9.6
50 celiac disease 1 9.6

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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
2
Sulfamethoxazole Approved Phase 4 723-46-6 5329
3
leucovorin Approved Phase 4 58-05-9 6006 143
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
6 Immunologic Factors Phase 4,Phase 3,Not Applicable
7 Immunoglobulins Phase 4,Phase 3,Not Applicable
8 Vaccines Phase 4,Not Applicable
9 Antibodies Phase 4,Phase 3,Not Applicable
10 Immunoglobulins, Intravenous Phase 4,Phase 3,Not Applicable
11 gamma-Globulins Phase 4,Phase 3,Not Applicable
12 Rho(D) Immune Globulin Phase 4,Phase 3,Not Applicable
13 Anti-Infective Agents Phase 4
14 Anti-Infective Agents, Urinary Phase 4
15 Antibiotics, Antitubercular Phase 4
16 Antiparasitic Agents Phase 4
17 Vitamin B9 Phase 4
18 Antitubercular Agents Phase 4
19 Anti-Bacterial Agents Phase 4
20 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
21 Antiprotozoal Agents Phase 4
22 Vitamin B Complex Phase 4
23 Antimalarials Phase 4
24 Renal Agents Phase 4
25 Folate Phase 4
26 Pharmaceutical Solutions Phase 3
27 Immunoglobulin G Phase 3
28 Immunoglobulin A Phase 3
29
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
30 tannic acid Approved Not Applicable
31
Palivizumab Approved, Investigational 188039-54-5
32 Antiviral Agents
33 Complement System Proteins Not Applicable

Interventional clinical trials:

(show all 22)
# 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 Immunoglobulin Replacement Therapy for Immunoglobulin G Subclass 2 Deficient Patients With Bronchiectasis Not yet recruiting NCT03737617 Phase 4 Cuvitru 20 % Injectable Solution
6 Efficacy and Safety Study of Kedrion IVIG 10% to Treat Subjects With Primary Immunodeficiency (PID) Unknown status NCT01581593 Phase 3
7 A Multi-centre Open Study to Assess the Safety and Efficacy of Subgam® Completed NCT02247141 Phase 3
8 Pharmacokinetics, Efficacy, and Safety Study of RI-002 (IGIV) in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01814800 Phase 3
9 Subcutaneous Ig NextGen 16% in PID Patients Completed NCT00391131 Phase 3 IgNextGen 16%
10 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
11 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
12 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
13 Oral Colostrum and Its Effect on Immune System Recruiting NCT03578341 Phase 3
14 Evaluate Bacteriophage as a Useful Immunogen in Patients With Primary Immune Deficiency Diseases (PIDD) Unknown status NCT01617122 Not Applicable
15 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401 Not Applicable
16 Construction of a Health-related Quality of Life (HR-QOL) Questionnaire for Patients With Primary Antibody Deficiency Disease Completed NCT02542228
17 Synagis® Liquid 50mg, 100mg for Intramuscular Injection Special Investigation in Immunocompromised Children With Synagis® Completed NCT02016690
18 The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease Completed NCT03211689 Not Applicable
19 Improving the Diagnosis of Common Variable Immune Deficiency Recruiting NCT03335605
20 Systematic Search for Primary Immunodeficiency in Adults With Infections Recruiting NCT02972281 Not Applicable
21 ENCAPSID Study : ENCApsulated Bacterial Infection and Primary, Secondary ImmunoDeficiency Recruiting NCT03721146
22 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
T Cells, B Cells, Lung, Liver
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Publications for Primary Agammaglobulinemia

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Articles related to Primary Agammaglobulinemia:

(show all 27)
# Title Authors Year
1
50 Years Ago in The Journal of Pediatrics: Dysgammaglobulinemic Antibody Deficiency Syndrome: Increased γM-Globulins and Decreased γG- and γA-Globulins. ( 28010792 )
2017
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
An antibody-deficiency syndrome due to mutations in the CD19 gene. ( 16672701 )
2006
6
Clinical and laboratory characteristics of 75 patients with specific polysaccharide antibody deficiency syndrome. ( 17042135 )
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
Behaviour of serum immunoglobulins during and after intravenous administration of gamma-globulins in patients with antibody deficiency syndrome. ( 4136556 )
1974
10
Secondary antibody deficiency syndrome in haemoblastosis. ( 4213369 )
1972
11
Antibody deficiency syndrome in patients with multiple myeloma and macroglobulinemia Waldenström. ( 4623942 )
1972
12
Primary antibody deficiency syndrome of adult onset. Evidence for genetic transmission. ( 5444305 )
1970
13
Amyloidosis associated with primary agammaglobulinemia, severe diarrhea and familial hypogammaglobulinemia. ( 4182999 )
1969
14
Ten cases of primary antibody deficiency syndrome in adults. Clinical and serological studies. ( 4179681 )
1969
15
Antibody deficiency syndrome and autoimmune haemolytic anaemia in a boy with isolated IgM deficiency dysimmunoglobulinaemia type 5. ( 4188208 )
1969
16
Antibody deficiency syndrome: a case with normal immunoglobulin levels. ( 4171045 )
1968
17
Production of an antibody deficiency syndrome in rabbits by neonatal removal of organized intestinal lymphoid tissues. ( 4171257 )
1968
18
The antibody deficiency syndrome. Clinical considerations. ( 4168363 )
1967
19
The antibody deficiency syndrome--clinical considerations. ( 4194664 )
1967
20
[Familial defect dysproteinemia with antibody deficiency syndrome]. ( 5593991 )
1967
21
Dysgammaglobulinemic antibody deficiency syndrome. ( 6016801 )
1967
22
The antibody deficiency syndrome. ( 5330385 )
1966
23
Defective RNA Synthesis in Lymphocytes from Patients with Primary Agammaglobulinemia. ( 17751856 )
1965
24
AN ANTIBODY DEFICIENCY SYNDROME. SELECTIVE IMMUNOGLOBULIN DEFICIENCY WITH REDUCED SYNTHESIS OF GAMMA AND ALPHA IMMUNOGLOBULIN POLYPEPTIDE CHAINS. ( 14320700 )
1965
25
ANTIBODY DEFICIENCY SYNDROME WITH INCREASED GAMMA1 M (B2 M) GLOBULINS AND ABSENT GAMMA1 A (B2 A) GLOBULINS AND GAMMA2 (G) GLOBULINS. ( 14063519 )
1963
26
Antibody deficiency syndrome associated with beta-2 macroglobulinemia. ( 13961561 )
1962
27
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
 12.08 TNFRSF13B TNFRSF13C
2
Allograft rejection 1 37
Show member pathways
 12 TNFRSF13B TNFRSF13C
3
TRAF Pathway 64
Show member pathways
 11.69 TNFRSF13B TNFRSF13C
4
RANK Signaling in Osteoclasts 64
Show member pathways
 11.35 TNFRSF13B TNFRSF13C
5
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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