MCID: DYS016
MIFTS: 32

Dysgammaglobulinemia

Categories: Immune diseases

Aliases & Classifications for Dysgammaglobulinemia

MalaCards integrated aliases for Dysgammaglobulinemia:

Name: Dysgammaglobulinemia 12 29 55 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:11702
MeSH 44 D004406
UMLS 73 C0013374

Summaries for Dysgammaglobulinemia

Disease Ontology : 12 A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.

MalaCards based summary : Dysgammaglobulinemia is related to lymphoproliferative syndrome, x-linked, 1 and lymphoproliferative syndrome 1. An important gene associated with Dysgammaglobulinemia is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway and Primary immunodeficiency. The drugs Trimethoprim and Sulfamethoxazole have been mentioned in the context of this disorder. Affiliated tissues include small intestine, b cells and colon, and related phenotypes are hematopoietic system and immune system

Wikipedia : 76 Dysgammaglobulinemia is a type of immune disorder characterized by a reduction in some types of gamma... more...

Related Diseases for Dysgammaglobulinemia

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 1 32.1 SH2D1A XIAP
2 lymphoproliferative syndrome 1 11.0
3 selective igm deficiency disease 11.0
4 transient hypogammaglobulinemia of infancy 11.0
5 lymphoproliferative syndrome, x-linked, 2 10.1 SH2D1A XIAP
6 lymphoproliferative syndrome 10.1 SH2D1A XIAP
7 lymphosarcoma 10.1 CD79A SH2D1A
8 lymphatic system cancer 10.1 CD79A SH2D1A
9 meningoencephalitis 10.1 CD79A MBP
10 mature b-cell neoplasm 10.1 CD79A SH2D1A
11 immunoglobulin alpha deficiency 10.0 CD79A TNFRSF13B
12 guillain-barre syndrome 10.0 CD79A MBP
13 systemic lupus erythematosus 10.0
14 neutropenia 10.0
15 lymphoma 10.0
16 optic neuritis 10.0
17 neuritis 10.0
18 lupus erythematosus 10.0
19 bronchiectasis 10.0
20 agammaglobulinemia, x-linked 10.0 CD79A SH2D1A
21 lymphoproliferative syndrome 2 9.9 MAGT1 XIAP
22 b cell deficiency 9.9 SH2D1A TNFRSF13B
23 immune deficiency disease 9.9 CD79A SH2D1A TNFRSF13B
24 common variable immunodeficiency 9.9 CD79A SH2D1A TNFRSF13B
25 immune system disease 9.9 MBP SH2D1A
26 anemia, autoimmune hemolytic 9.9
27 celiac disease 1 9.9
28 myeloma, multiple 9.9
29 asplenia, isolated congenital 9.9
30 alpha-1-antitrypsin deficiency 9.9
31 cholangitis, primary sclerosing 9.9
32 graft-versus-host disease 9.9
33 hemolytic anemia 9.9
34 neuromyelitis optica 9.9
35 sarcoma 9.9
36 sclerosing cholangitis 9.9
37 gaucher's disease 9.9
38 agammaglobulinemia 9.9
39 cellulitis 9.9
40 lymphopenia 9.9
41 thymic dysplasia 9.9
42 rubella 9.9
43 cholangitis 9.9
44 chronic graft versus host disease 9.9
45 congenital rubella 9.9
46 dwarfism 9.9
47 haemophilus influenzae 9.9
48 stromal keratitis 9.9
49 autoimmune disease 9.8 CD79A MBP TNFRSF13B
50 lymphoma, non-hodgkin, familial 9.8 CD79A SH2D1A TNFRSF13B XIAP

Graphical network of the top 20 diseases related to Dysgammaglobulinemia:



Diseases related to Dysgammaglobulinemia

Symptoms & Phenotypes for Dysgammaglobulinemia

MGI Mouse Phenotypes related to Dysgammaglobulinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.63 CD79A MAGT1 MBP SH2D1A TNFRSF13B XIAP
2 immune system MP:0005387 9.43 CD79A MAGT1 MBP SH2D1A TNFRSF13B XIAP
3 normal MP:0002873 9.02 CD79A CLEC16A MAGT1 MBP XIAP

Drugs & Therapeutics for Dysgammaglobulinemia

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

(show top 50) (show all 75)
# 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,Not Applicable 58-05-9 6006 143
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 59-30-3 6037
5 Immunologic Factors Phase 4,Phase 3,Phase 2,Not Applicable
6 gamma-Globulins Phase 4,Phase 3,Phase 2
7 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
8 Antibodies Phase 4,Phase 3,Phase 2
9 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
10 Immunoglobulins Phase 4,Phase 3,Phase 2
11 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
12 Anti-Infective Agents, Urinary Phase 4
13 Antibiotics, Antitubercular Phase 4
14 Antiparasitic Agents Phase 4
15 Vitamin B9 Phase 4,Not Applicable
16 Antitubercular Agents Phase 4
17 Anti-Bacterial Agents Phase 4,Phase 2
18 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
19 Antiprotozoal Agents Phase 4
20 Vitamin B Complex Phase 4,Not Applicable
21 Antimalarials Phase 4
22 Renal Agents Phase 4
23 Folate Phase 4,Not Applicable
24 Immunoglobulin G Phase 3,Phase 2
25 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
26 Vaccines Phase 2
27 Immunoglobulin A Phase 1
28
Fludarabine Approved Not Applicable 75607-67-9, 21679-14-1 30751
29
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
30
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
31
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
32
alemtuzumab Approved, Investigational Not Applicable 216503-57-0
33
Mesna Approved, Investigational Not Applicable 3375-50-6 598
34
Melphalan Approved Not Applicable 148-82-3 4053 460612
35
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
36
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
37
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
38
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
39
Etoposide Approved Not Applicable 33419-42-0 36462
40
Methotrexate Approved Not Applicable 59-05-2, 1959-05-2 126941
41
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
42
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
43
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
44 Alkylating Agents Not Applicable
45 Antiviral Agents Not Applicable
46 Antirheumatic Agents Not Applicable
47 Antineoplastic Agents, Alkylating Not Applicable
48 Immunosuppressive Agents Not Applicable
49 Antimetabolites Not Applicable
50 Antimetabolites, Antineoplastic Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Treatment of Deficient Subclass or Anti-polysaccharide Antibody Response Completed NCT00522821 Phase 4 intravenous immunoglobulins;antibiotics
2 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
3 IVIG Treatment for Asthmatic Patients With IgG Subclass Deficiency Unknown status NCT01992328 Phase 3 Immune Globulin
4 Safety and Efficacy of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
5 Efficacy and Safety of Intravenous Immunoglobulin IgPro10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
6 Efficacy and Safety of Intravenous Immunoglobulin IVIG-F10 in Patients With Primary Immunodeficiencies (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
7 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
8 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
9 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
10 PNEUMOCELL - Conjugated Pneumococcal Vaccination in Patients With Immunoglobulin G-deficiency Completed NCT01847781 Phase 2
11 Efficacy of IgIv in Patients With IgG Subclass Deficiency and Recurrent Infections Completed NCT00417573 Phase 2 IV Gamunex 10%
12 Study of Immune Responses and Safety of Recombinant Human CD40 Ligand in Patients With X-Linked Hyper-IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
13 B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
14 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
15 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
16 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
17 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Dysgammaglobulinemia

Cochrane evidence based reviews: dysgammaglobulinemia

Genetic Tests for Dysgammaglobulinemia

Genetic tests related to Dysgammaglobulinemia:

# Genetic test Affiliating Genes
1 Dysgammaglobulinemia 29

Anatomical Context for Dysgammaglobulinemia

MalaCards organs/tissues related to Dysgammaglobulinemia:

41
Small Intestine, B Cells, Colon

Publications for Dysgammaglobulinemia

Articles related to Dysgammaglobulinemia:

(show top 50) (show all 63)
# Title Authors Year
1
Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. ( 26182687 )
2015
2
Poor specific antibody response immunodeficiency (dysgammaglobulinemia) predates systemic lupus erythematosus. ( 23894048 )
2013
3
Neuromyelitis optica-IgG+ optic neuritis associated with celiac disease and dysgammaglobulinemia: a role for tacrolimus? ( 20937563 )
2011
4
Gaucher disease and dysgammaglobulinemia: a report of 61 patients, including 18 with GD type III. ( 20729110 )
2011
5
Significant differences in B-cell subpopulations characterize patients with chronic graft-versus-host disease-associated dysgammaglobulinemia. ( 21063025 )
2011
6
Children with Tourette's syndrome may suffer immunoglobulin A dysgammaglobulinemia: preliminary report. ( 20006327 )
2010
7
Lethal pneumococcal infection in an 18-month-old girl with splenic hypoplasia and dysgammaglobulinemia. ( 11757727 )
2001
8
Pneumococcal cellulitis and dysgammaglobulinemia. ( 1557198 )
1992
9
Abnormalities associated with the bursal microenvironment in spontaneous dysgammaglobulinemia of UCD line 140 chickens. ( 2009641 )
1991
10
Dysgammaglobulinemia in steroid-dependent optic neuritis: response to gammaglobulin treatment. ( 1838541 )
1991
11
Herpetic stromal keratitis in congenital dysgammaglobulinemia. Case report. ( 2714093 )
1989
12
Inability of oral bovine transfer factor to eradicate cryptosporidial infection in a patient with congenital dysgammaglobulinemia. ( 2917426 )
1989
13
Attempts to localize the defect in dysgammaglobulinemia of UM-B19 chickens by studying the effect of immunomodulating substances on immunoglobulin and antibody production. ( 3564361 )
1987
14
Primary sclerosing cholangitis associated with hyperimmunoglobulin M immunodeficiency (dysgammaglobulinemia). ( 3721129 )
1986
15
Inherited dysgammaglobulinemia of chickens: reduced incidence of disease in parabiotic chimeras. ( 4006321 )
1985
16
Lack of IgG in a healthy adult: a rare case of dysgammaglobulinemia with undetectable serum IgG, IgA2, and IgE. ( 6365378 )
1984
17
Bacteremic infections caused by nontypable Haemophilus influenzae in patients with dysgammaglobulinemia. ( 6600746 )
1983
18
The association between Kaposi's sarcoma and dysgammaglobulinemia. ( 7066867 )
1982
19
IgM cryoprecipitation and anti-immunoglobulin activity in dysgammaglobulinemia type I. ( 6980073 )
1982
20
Nodular lymphoid hyperplasia of the small intestine with Burkitt's lymphoma and dysgammaglobulinemia. ( 7308712 )
1981
21
Neutropenia in dysgammaglobulinemia I: remission with immunoglobulin therapy. ( 7281709 )
1981
22
IgM-restricted production of immunoglobulin by lymphoid cell lines from patients with immunodeficiency with hyper IgM (dysgammaglobulinemia). ( 7011617 )
1981
23
The immunopathology of spontaneously acquired dysgammaglobulinemia in chickens. ( 7408236 )
1980
24
Inherited 7 S immunoglobulin deficiency in chickens: late onset dysgammaglobulinemia and evaluation of the lymphocyte proliferative responses and other immunologic functions. ( 6893299 )
1980
25
Lymphadenopathy associated with dysgammaglobulinemia. ( 6767275 )
1980
26
Variable dysgammaglobulinemia and bronchiectasis. ( 6766917 )
1980
27
Acquired alpha-1-antitrypsin deficiency and dysgammaglobulinemia. ( 6770742 )
1980
28
Hyper immunoglobulin M immunodeficiency. (Dysgammaglobulinemia). Presence of immunoglobulin M-secreting plasmacytoid cells in peripheral blood and failure of immunoglobulin M-immunoglobulin G switch in B-cell differentiation. ( 313404 )
1979
29
Nodular lymphoid hyperplasia of the colon associated with dysgammaglobulinemia. ( 183544 )
1976
30
Vitiligo and dysgammaglobulinemia. A case report and family study. ( 163713 )
1975
31
Correction of neutropenia associated with dysgammaglobulinemia. ( 4137595 )
1974
32
Selective "dysgammaglobulinemia" with elevated serum IgA levels and chronic salmonellosis. ( 4119607 )
1973
33
Recurrent pleural effusion associated with dysgammaglobulinemia. ( 4695368 )
1973
34
Identification and clinical implications of isoantibodies in patients with idiopathic dysgammaglobulinemia. ( 4201463 )
1973
35
Varicella as the cause of death in an infant affected by lymphopenic thymic dysplasia with dysgammaglobulinemia. ( 4111806 )
1972
36
Sisters with low birth weight, dwarfism, congenital anomalies, and dysgammaglobulinemia. ( 5156261 )
1971
37
Radiographic changes of the small intestine in lymphoid hyperplasia associated with dysgammaglobulinemia. A case report. ( 5114317 )
1971
38
Dysgammaglobulinemia with absence of IgG and increase of IgA and slow IgM. ( 5121260 )
1971
39
Multiple myeloma: malignant dysgammaglobulinemia. ( 4106467 )
1971
40
Type I dysgammaglobulinemia, systemic lupus erythematosus and lymphoma. ( 4190110 )
1970
41
Dysgammaglobulinemia associated with malabsorption and tetany. ( 5435948 )
1970
42
Thymic alymphoplasia, previously reported as dysgammaglobulinemia type I. ( 5440357 )
1970
43
Lymphoid hyperplasia of the large intestine associated with dysgammaglobulinemia. Report of a case. ( 4190244 )
1970
44
Histiocytic reaction in dysgammaglobulinemia and congenital rubella. ( 5465365 )
1970
45
Thymic alymphoplasia and dysgammaglobulinemia type I. Clinical, immunological, and pathological studies of one case. ( 4182953 )
1969
46
In vitro immune response of peripheral lymphocytes in agammaglobulinemia and dysgammaglobulinemia. ( 4186943 )
1969
47
Immunoelectrophoresis versus electrophoresis in study of dysgammaglobulinemia. ( 4180263 )
1968
48
Dysgammaglobulinemia type IV. ( 4169993 )
1968
49
Dysgammaglobulinemia with nodular lymphoid hyperplasia of the small intestine. A case report. ( 5642298 )
1968
50
Immunologic amnesia. Study of an 11-year-old girl with recurrent severe infections associated with dysgammaglobulinemia, lymphopenia and lymphocytotoxic antibody, resulting in loss of immunologic memory. ( 4170529 )
1968

Variations for Dysgammaglobulinemia

Expression for Dysgammaglobulinemia

Search GEO for disease gene expression data for Dysgammaglobulinemia.

Pathways for Dysgammaglobulinemia

Pathways related to Dysgammaglobulinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.82 TNFRSF13B XIAP
2 10.19 CD79A TNFRSF13B

GO Terms for Dysgammaglobulinemia

Biological processes related to Dysgammaglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to starvation GO:0009267 8.96 AMBRA1 CLEC16A
2 adaptive immune response GO:0002250 8.8 CD79A SH2D1A TNFRSF13B

Sources for Dysgammaglobulinemia

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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