MCID: DYS016
MIFTS: 38

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
SNOMED-CT 68 123782009 127389001
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 transient hypogammaglobulinemia of infancy and lymphoproliferative syndrome 1. An important gene associated with Dysgammaglobulinemia is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are NF-kappaB Signaling and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. The drugs Sulfamethoxazole and Trimethoprim have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, small intestine and bone, 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 196)
# Related Disease Score Top Affiliating Genes
1 transient hypogammaglobulinemia of infancy 32.0 CD40LG CD79A
2 lymphoproliferative syndrome 1 31.9 ITK SH2D1A
3 anemia, autoimmune hemolytic 30.1 CD40LG CD79A
4 thymic dysplasia 30.0 CD40LG CD79A
5 agammaglobulinemia 29.3 CD40LG CD79A SH2D1A
6 selective igm deficiency disease 10.9
7 tabes dorsalis 10.6 CD79A MBP
8 lymphoproliferative syndrome, x-linked, 2 10.5 SH2D1A XIAP
9 selective igg deficiency disease 10.4 CD40LG CD79A
10 c1q nephropathy 10.4 CD40LG CD79A
11 alpha chain disease 10.4 CD40LG CD79A
12 brill-zinsser disease 10.4 CD40LG CD79A
13 exudative glomerulonephritis 10.4 CD40LG CD79A
14 cork-handlers' disease 10.4 CD40LG CD79A
15 salpingo-oophoritis 10.4 CD40LG CD79A
16 early yaws 10.4 CD40LG CD79A
17 ventilation pneumonitis 10.4 CD40LG CD79A
18 chronic interstitial cystitis 10.4 CD40LG CD79A
19 axillary adenitis 10.4 CD40LG CD79A
20 cryofibrinogenemia 10.4 CD40LG CD79A
21 lymphoproliferative syndrome, x-linked, 1 10.4 SH2D1A XIAP
22 trichostrongyloidiasis 10.4 CD40LG CD79A
23 subacute bacterial endocarditis 10.4 CD40LG CD79A
24 heterophyiasis 10.4 CD40LG CD79A
25 immunoglobulin g deficiency 10.4 CD40LG CD79A
26 orbital granuloma 10.4 CD40LG CD79A
27 hyperglobulinemic purpura 10.4 CD40LG CD79A
28 gastroduodenitis 10.4 CD40LG CD79A
29 bacterial conjunctivitis 10.4 CD40LG CD79A
30 heavy chain disease 10.4 CD40LG CD79A
31 ophthalmia neonatorum 10.4 CD40LG CD79A
32 immunoglobulin a deficiency 1 10.4 CD40LG CD79A
33 parotid disease 10.4 CD40LG CD79A
34 cerebral arteritis 10.4 CD40LG CD79A
35 geniculate herpes zoster 10.4 CD40LG CD79A
36 erythema elevatum diutinum 10.4 CD40LG CD79A
37 sporotrichosis 10.4 CD40LG CD79A
38 fallopian tube disease 10.4 CD40LG CD79A
39 hyperimmunoglobulin syndrome 10.4 CD40LG CD79A
40 congenital syphilis 10.4 CD40LG CD79A
41 polyclonal hypergammaglobulinemia 10.4 CD40LG CD79A
42 monoclonal paraproteinemia 10.4 CD40LG CD79A
43 salpingitis 10.4 CD40LG CD79A
44 ocular toxoplasmosis 10.4 CD40LG CD79A
45 congenital hypogammaglobulinemia 10.4 CD40LG CD79A
46 acute maxillary sinusitis 10.4 CD40LG CD79A
47 chronic polyneuropathy 10.4 CD40LG CD79A
48 spinocerebellar ataxia, autosomal recessive 10 10.4 CD40LG CD79A
49 parasitic ichthyosporea infectious disease 10.4 CD40LG CD79A
50 cd40 ligand deficiency 10.4 CD40LG CD79A

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 9.5 CD40LG CD79A ITK MAGT1 MBP SH2D1A
2 immune system MP:0005387 9.17 CD40LG CD79A ITK MAGT1 MBP SH2D1A

Drugs & Therapeutics for Dysgammaglobulinemia

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

(show top 50) (show all 73)
# 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
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 59-30-3 6037
4
leucovorin Approved, Nutraceutical Phase 4,Not Applicable 58-05-9 143 6006
5 Antibodies Phase 4,Phase 3,Phase 2
6 gamma-Globulins Phase 4,Phase 3,Phase 2
7 Immunoglobulins Phase 4,Phase 3,Phase 2
8 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
9 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
10 Anti-Bacterial Agents Phase 4,Phase 2
11 Antibiotics, Antitubercular Phase 4
12 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
13 Antimalarials Phase 4
14 Antiparasitic Agents Phase 4
15 Antiprotozoal Agents Phase 4
16 Antitubercular Agents Phase 4
17 Renal Agents Phase 4
18 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
19 Vitamin B Complex Phase 4,Not Applicable
20 Folate Nutraceutical Phase 4,Not Applicable
21 Vitamin B9 Nutraceutical Phase 4,Not Applicable
22 Immunoglobulin G Phase 3,Phase 2
23 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
24 Vaccines Phase 2
25 Immunoglobulin A Phase 1
26
alemtuzumab Approved, Investigational Not Applicable 216503-57-0
27
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
28
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
29
Fludarabine Approved Not Applicable 21679-14-1, 75607-67-9 30751
30
Melphalan Approved Not Applicable 148-82-3 4053 460612
31
Mesna Approved, Investigational Not Applicable 3375-50-6 598
32
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
33
Etoposide Approved Not Applicable 33419-42-0 36462
34
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
35
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
36
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
37
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
38
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
39 Alkylating Agents Not Applicable
40 Antimetabolites Not Applicable
41 Antimetabolites, Antineoplastic Not Applicable
42 Antineoplastic Agents, Alkylating Not Applicable
43 Antirheumatic Agents Not Applicable
44 Antiviral Agents Not Applicable
45 Immunosuppressive Agents Not Applicable
46 Protective Agents Not Applicable
47 Antiemetics Not Applicable
48 Antifungal Agents Not Applicable
49 Anti-Inflammatory Agents Not Applicable
50 Antilymphocyte Serum 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
Bone Marrow, Small Intestine, Bone, B Cells, Colon

Publications for Dysgammaglobulinemia

Articles related to Dysgammaglobulinemia:

(show top 50) (show all 61)
# 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
Recurrent pleural effusion associated with dysgammaglobulinemia. ( 4695368 )
1973
33
Identification and clinical implications of isoantibodies in patients with idiopathic dysgammaglobulinemia. ( 4201463 )
1973
34
Varicella as the cause of death in an infant affected by lymphopenic thymic dysplasia with dysgammaglobulinemia. ( 4111806 )
1972
35
Sisters with low birth weight, dwarfism, congenital anomalies, and dysgammaglobulinemia. ( 5156261 )
1971
36
Radiographic changes of the small intestine in lymphoid hyperplasia associated with dysgammaglobulinemia. A case report. ( 5114317 )
1971
37
Dysgammaglobulinemia with absence of IgG and increase of IgA and slow IgM. ( 5121260 )
1971
38
Multiple myeloma: malignant dysgammaglobulinemia. ( 4106467 )
1971
39
Type I dysgammaglobulinemia, systemic lupus erythematosus and lymphoma. ( 4190110 )
1970
40
Dysgammaglobulinemia associated with malabsorption and tetany. ( 5435948 )
1970
41
Thymic alymphoplasia, previously reported as dysgammaglobulinemia type I. ( 5440357 )
1970
42
Lymphoid hyperplasia of the large intestine associated with dysgammaglobulinemia. Report of a case. ( 4190244 )
1970
43
Histiocytic reaction in dysgammaglobulinemia and congenital rubella. ( 5465365 )
1970
44
Thymic alymphoplasia and dysgammaglobulinemia type I. Clinical, immunological, and pathological studies of one case. ( 4182953 )
1969
45
In vitro immune response of peripheral lymphocytes in agammaglobulinemia and dysgammaglobulinemia. ( 4186943 )
1969
46
Immunoelectrophoresis versus electrophoresis in study of dysgammaglobulinemia. ( 4180263 )
1968
47
Dysgammaglobulinemia type IV. ( 4169993 )
1968
48
Dysgammaglobulinemia with nodular lymphoid hyperplasia of the small intestine. A case report. ( 5642298 )
1968
49
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
50
"Asymptomatic" type I dysgammaglobulinemia in sibling. ( 4966816 )
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 11.44 CD40LG CD79A ITK SH2D1A
2
Show member pathways
11.02 CD40LG XIAP
3 10.52 CD40LG CD79A

GO Terms for Dysgammaglobulinemia

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

# Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 9.26 CD40LG CD79A
2 cellular defense response GO:0006968 9.16 ITK SH2D1A
3 adaptive immune response GO:0002250 9.13 CD79A ITK SH2D1A
4 B cell proliferation GO:0042100 8.62 CD40LG CD79A

Sources for Dysgammaglobulinemia

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
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44 MeSH
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49 NCI
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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
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74 UMLS via Orphanet
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