MCID: DYS016
MIFTS: 35

Dysgammaglobulinemia

Categories: Immune diseases

Aliases & Classifications for Dysgammaglobulinemia

MalaCards integrated aliases for Dysgammaglobulinemia:

Name: Dysgammaglobulinemia 12 54 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:11702
MeSH 43 D004406
UMLS 71 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 common variable immunodeficiency. An important gene associated with Dysgammaglobulinemia is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Vaccines and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and small intestine, and related phenotypes are hematopoietic system and immune system

Wikipedia : 74 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 165)
# Related Disease Score Top Affiliating Genes
1 transient hypogammaglobulinemia of infancy 32.2 TNFRSF13B CD40LG
2 common variable immunodeficiency 31.4 XIAP TNFRSF13B SH2D1A ICOSLG CLEC16A CD79A
3 lymphoproliferative syndrome 1 30.7 XIAP UNC13D STXBP2 STX11 SH2D1A
4 agammaglobulinemia 30.5 STX11 ICOSLG CD79A CD40LG
5 immunodeficiency with hyper-igm, type 1 30.5 CD79A CD40LG
6 immunoglobulin alpha deficiency 30.5 TNFRSF13B ICOSLG CD79A CD40LG
7 celiac disease 1 30.1 ICOSLG CLEC16A CD79A CD40LG
8 immune deficiency disease 29.6 TNFRSF13B SLAMF1 SH2D1A ICOSLG CD79A CD40LG
9 hemophagocytic lymphohistiocytosis 28.8 XIAP UNC13D STXBP2 STX11 SH2D1A
10 myeloma, multiple 28.7 XIAP TNFRSF13B SLAMF7 SLAMF1 ICOSLG CD79A
11 lymphoproliferative syndrome, x-linked, 2 28.5 XIAP UNC13D STXBP2 STX11 SLAMF1 SH2D1A
12 lymphoproliferative syndrome, x-linked, 1 28.5 XIAP UNC13D STXBP2 STX11 SLAMF7 SLAMF6
13 systemic lupus erythematosus 28.2 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 LY9 ICOSLG
14 lymphoproliferative syndrome 27.9 XIAP UNC13D SLAMF6 SLAMF1 SH2D1A LY9
15 obsolete: low birth weight-dwarfism-dysgammaglobulinemia syndrome 12.2
16 selective igm deficiency disease 11.2
17 selective igg deficiency disease 11.2
18 selective ige deficiency disease 11.2
19 hemorrhagic fever-renal syndrome 10.5 CD79A CD40LG
20 c1q nephropathy 10.5 CD79A CD40LG
21 hilar lung carcinoma 10.5 CD79A CD40LG
22 lung hilum cancer 10.5 CD79A CD40LG
23 immunoglobulin g deficiency 10.5 CD79A CD40LG
24 cryofibrinogenemia 10.5 CD79A CD40LG
25 monoclonal paraproteinemia 10.5 CD79A CD40LG
26 post-vaccinal encephalitis 10.5 MBP ICOSLG
27 ocular toxoplasmosis 10.5 CD79A CD40LG
28 meningovascular neurosyphilis 10.4 MBP CD40LG
29 cerebral lymphoma 10.4 CD79A CD40LG
30 congenital syphilis 10.4 CD79A CD40LG
31 secondary syphilis 10.4 CD79A CD40LG
32 heavy chain disease 10.4 CD79A CD40LG
33 pustulosis palmaris et plantaris 10.4 CD79A CD40LG
34 sporotrichosis 10.4 CD79A CD40LG
35 parotitis 10.4 CD79A CD40LG
36 coronin-1a deficiency 10.4 SH2D1A MAGT1
37 autoimmune neuropathy 10.4 ICOSLG CD40LG
38 alpha chain disease 10.3 CD79A CD40LG
39 calciphylaxis 10.3 CD79A CD40LG
40 guillain-barre syndrome 10.3 MBP CD79A CD40LG
41 autoimmune disease of peripheral nervous system 10.3 MBP ICOSLG CD40LG
42 plasma cell neoplasm 10.3 ICOSLG CD79A CD40LG
43 meningoencephalitis 10.3 MBP CD79A CD40LG
44 pleural empyema 10.3 CD79A CD40LG
45 iga glomerulonephritis 10.3 ICOSLG CD79A CD40LG
46 progressive multifocal leukoencephalopathy 10.3 MBP ICOSLG CD40LG
47 myelitis 10.3 MBP ICOSLG CD40LG
48 lymphatic system cancer 10.3 ICOSLG CD79A CD40LG
49 polyradiculoneuropathy 10.3 MBP ICOSLG CD40LG
50 mature b-cell neoplasm 10.3 ICOSLG CD79A CD40LG

Graphical network of the top 20 diseases related to Dysgammaglobulinemia:



Diseases related to Dysgammaglobulinemia

Symptoms & Phenotypes for Dysgammaglobulinemia

MGI Mouse Phenotypes related to Dysgammaglobulinemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.86 CD244 CD40LG CD79A CD84 LY9 MAGT1
2 immune system MP:0005387 9.53 CD244 CD40LG CD79A CD84 LY9 MAGT1

Drugs & Therapeutics for Dysgammaglobulinemia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines
2 Antibodies
3 Immunologic Factors
4 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399

Search NIH Clinical Center for Dysgammaglobulinemia

Cochrane evidence based reviews: dysgammaglobulinemia

Genetic Tests for Dysgammaglobulinemia

Anatomical Context for Dysgammaglobulinemia

MalaCards organs/tissues related to Dysgammaglobulinemia:

40
T Cells, B Cells, Small Intestine, Lung, Testes, Colon, Neutrophil

Publications for Dysgammaglobulinemia

Articles related to Dysgammaglobulinemia:

(show top 50) (show all 220)
# Title Authors PMID Year
1
Children with Tourette's syndrome may suffer immunoglobulin A dysgammaglobulinemia: preliminary report. 54 61
20006327 2010
2
X-linked lymphoproliferative disease in an adult. 54 61
16105760 2005
3
Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. 54 61
11520777 2001
4
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. 61
31714901 2020
5
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype. 61
31799703 2019
6
Tolerability and safety of long-term rituximab treatment in systemic inflammatory and autoimmune diseases. 61
30923955 2019
7
Immunoglobulin A Dysgammaglobulinemia Is Associated with Pediatric-Onset Obsessive-Compulsive Disorder. 61
30892924 2019
8
Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations. 61
30572125 2019
9
Transfer of gene-corrected T cells corrects humoral and cytotoxic defects in patients with X-linked lymphoproliferative disease. 61
29705247 2018
10
Recurrent Septic Shock and Syncope: An Unusual Combination. 61
31331154 2018
11
Interleukin-2-Inducible T-Cell Kinase Deficiency-New Patients, New Insight? 61
29867957 2018
12
Follicular Helper T Cells in DiGeorge Syndrome. 61
30083170 2018
13
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations. 61
27939403 2017
14
Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing. 61
28231257 2017
15
Selective immunoglobulin M deficiency in an adult with miliary tuberculosis: A clinically interesting coexistence. A case report and review of the literature. 61
26928000 2016
16
CRISPR-Mediated Triple Knockout of SLAMF1, SLAMF5 and SLAMF6 Supports Positive Signaling Roles in NKT Cell Development. 61
27258160 2016
17
Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant. 61
26433589 2015
18
Mutations in Bruton's tyrosine kinase impair IgA responses. 61
25589397 2015
19
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease. 61
25504528 2015
20
Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. 61
26182687 2015
21
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. 61
25669891 2014
22
Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects. 61
25339095 2014
23
Poor specific antibody response immunodeficiency (dysgammaglobulinemia) predates systemic lupus erythematosus. 61
23894048 2013
24
Good Syndrome, a rare cause of refractory chronic diarrhea and recurrent pneumonia in a Chinese patient after thymectomy. 61
23697574 2013
25
SAP modulates B cell functions in a genetic background-dependent manner. 61
23806511 2013
26
Immune dysfunction in Tourette syndrome. 61
23187145 2013
27
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. 61
22672194 2012
28
X-linked hyper IgM syndrome: a novel sequence variant associated with an atypical mild phenotype. 61
22322937 2012
29
SAP expression in invariant NKT cells is required for cognate help to support B-cell responses. 61
22613797 2012
30
Neuromyelitis optica-IgG+ optic neuritis associated with celiac disease and dysgammaglobulinemia: a role for tacrolimus? 61
20937563 2011
31
Significant differences in B-cell subpopulations characterize patients with chronic graft-versus-host disease-associated dysgammaglobulinemia. 61
21063025 2011
32
SLAM family receptors and SAP adaptors in immunity. 61
21219180 2011
33
Gaucher disease and dysgammaglobulinemia: a report of 61 patients, including 18 with GD type III. 61
20729110 2011
34
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. 61
20926771 2011
35
Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry. 61
20632414 2011
36
Chordoid meningioma: a clinicopathologic study of 11 cases at a single institution. 61
20454999 2010
37
Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. 61
20816973 2010
38
Long-term monitoring of Epstein-Barr virus DNA load and humoral parameter abnormalities in pediatric liver transplant recipients before development of malignancy. 61
20158667 2010
39
Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene. 61
20542322 2010
40
T/NK large granular lymphocyte leukemia and coexisting monoclonal B-cell lymphocytosis-like proliferations. An unrecognized and frequent association. 61
20472852 2010
41
Giant chordoid meningioma symptomatic immediately after pregnancy: report of a rare case. 61
20423691 2010
42
Clinical and immunological features in IgM deficiency. 61
19494527 2009
43
Chronic rhinosinusitis in primary antibody immunodeficient patients. 61
16774791 2006
44
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. 61
16639407 2006
45
X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency. 61
16328363 2006
46
Pyrogenic cytokine interleukin-6 expression by a chordoid meningioma in an adult with a systemic inflammatory syndrome. Case report and review of the literature. 61
16235690 2005
47
Defective B cell responses in the absence of SH2D1A. 61
15774582 2005
48
X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis. 61
15682426 2005
49
[Immune alterations in patients with laryngeal cancer at different stages]. 61
16091717 2005
50
[A comparative analysis of immune status in laryngeal cancer and chronic hyperplastic laryngitis]. 61
16025929 2005

Variations for Dysgammaglobulinemia

Expression for Dysgammaglobulinemia

Search GEO for disease gene expression data for Dysgammaglobulinemia.

Pathways for Dysgammaglobulinemia

GO Terms for Dysgammaglobulinemia

Cellular components related to Dysgammaglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10 TNFRSF13B STXBP2 STX11 SLAMF7 SLAMF6 SLAMF1
2 membrane GO:0016020 9.86 UNC13D TNFRSF13B STXBP2 STX11 SLAMF7 SLAMF6
3 external side of plasma membrane GO:0009897 9.56 ICOSLG CD79A CD40LG CD244
4 plasma membrane GO:0005886 9.47 TNFRSF13B STXBP2 STX11 SLAMF7 SLAMF6 SLAMF1

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.7 SLAMF7 SLAMF6 SLAMF1 SH2D1A LY9 CD84
2 regulation of immune response GO:0050776 9.65 SLAMF7 SLAMF6 SH2D1A ICOSLG CD40LG
3 exocytosis GO:0006887 9.61 UNC13D STXBP2 STX11
4 adaptive immune response GO:0002250 9.56 TNFRSF13B SLAMF7 SLAMF1 SH2D1A ICOSLG CD84
5 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.46 SLAMF6 SH2D1A
6 positive regulation of interleukin-17 production GO:0032740 9.4 SLAMF6 LY9
7 regulation of mast cell degranulation GO:0043304 9.37 UNC13D STXBP2
8 T-helper 17 cell lineage commitment GO:0072540 9.32 SLAMF6 LY9
9 immune system process GO:0002376 9.32 TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1A LY9

Sources for Dysgammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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