MCID: IMM131
MIFTS: 41

Immunodeficiency with Hyper-Igm, Type 4

Categories: Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Immunodeficiency with Hyper-Igm, Type 4

MalaCards integrated aliases for Immunodeficiency with Hyper-Igm, Type 4:

Name: Immunodeficiency with Hyper-Igm, Type 4 57 73
Higm4 57 12 53 59
Immunodeficiency with Hyper-Igm Type 4 12 15
Immunodeficiency with Hyper Igm Type 4 53 29
Hyper-Igm Syndrome Type 4 12 59
Immunodeficiency, with Hyper Igm, Type 4 40
Hyper Igm Syndrome Type 4 29
Hyper-Igm Syndrome 4 57
Hyper Igm Syndrome 4 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
no opportunistic infections
mean age at diagnosis 8.8 years (range 0.2-23 years)
recurrent bacterial infections beginning in childhood


HPO:

32
immunodeficiency with hyper-igm, type 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 608184
Disease Ontology 12 DOID:0060760
ICD10 33 D80.5
Orphanet 59 ORPHA101091
UMLS via Orphanet 74 C1842413
ICD10 via Orphanet 34 D80.5
MedGen 42 C1842413
UMLS 73 C1842413

Summaries for Immunodeficiency with Hyper-Igm, Type 4

OMIM : 57 Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003). For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). (608184)

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 4, also known as higm4, is related to immunodeficiency with hyper-igm, type 1 and congenital rubella. An important gene associated with Immunodeficiency with Hyper-Igm, Type 4 is UNG (Uracil DNA Glycosylase), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Allograft rejection. Affiliated tissues include lymph node and b cells, and related phenotypes are autoimmune hemolytic anemia and autoimmune thrombocytopenia

Disease Ontology : 12 A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.

Related Diseases for Immunodeficiency with Hyper-Igm, Type 4

Diseases related to Immunodeficiency with Hyper-Igm, Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 1 28.3 AICDA CD40 CD40LG UNG
2 congenital rubella 10.2 CD40LG UNG
3 light fixation seizure syndrome 10.0 CD40 CD40LG
4 exanthema subitum 10.0 CD40 CD40LG
5 waldenstrom macroglobulinemia 9.9 CD40 CD40LG
6 toxoplasmosis 9.9 CD40 CD40LG
7 combined immunodeficiency, x-linked 9.8 CD40 CD40LG
8 myocarditis 9.8 CD40 CD40LG
9 follicular lymphoma 9.8 AICDA CD40
10 salivary gland disease 9.7 CD40LG TNFSF13B
11 primary thrombocytopenia 9.7 CD40LG TNFSF13B
12 cryoglobulinemia 9.7 CD40LG TNFSF13B
13 macroglobulinemia 9.7 CD40LG TNFSF13B
14 primary sjögren syndrome 9.7 CD40LG TNFSF13B
15 hypersensitivity reaction disease 9.6 CD40LG TNFSF13B
16 immune deficiency disease 9.6 CD40 CD40LG
17 immune system disease 9.6 CD40LG TNFSF13B
18 vasculitis 9.5 CD40LG TNFSF13B
19 mantle cell lymphoma 9.5 CD40 CD40LG
20 cd40 ligand deficiency 9.4 AICDA CD40 CD40LG
21 immunodeficiency with hyper-igm, type 3 9.4 AICDA CD40 CD40LG
22 mature b-cell neoplasm 9.4 AICDA CD40 CD40LG
23 b cell deficiency 9.4 AICDA CD40 CD40LG
24 b-cell lymphomas 9.0 AICDA CD40 TNFSF13B
25 myeloma, multiple 9.0 CD40 CD40LG TNFSF13B
26 autoimmune disease 9.0 CD40 CD40LG TNFSF13B
27 connective tissue disease 9.0 CD40LG TNFSF13B
28 hyperimmunoglobulin syndrome 8.9 AICDA CD40 CD40LG UNG
29 systemic lupus erythematosus 8.7 CD40 CD40LG TNFSF13B
30 common variable immunodeficiency 8.4 AICDA CD40 CD40LG TNFSF13B
31 burkitt lymphoma 8.4 AICDA CD40 CD40LG TNFSF13B
32 lymphoma, non-hodgkin, familial 8.4 AICDA CD40 CD40LG TNFSF13B
33 leukemia, chronic lymphocytic 8.4 AICDA CD40 CD40LG TNFSF13B
34 immunodeficiency with hyper-igm, type 2 7.9 AICDA CD40 CD40LG TNFSF13B UNG

Graphical network of the top 20 diseases related to Immunodeficiency with Hyper-Igm, Type 4:



Diseases related to Immunodeficiency with Hyper-Igm, Type 4

Symptoms & Phenotypes for Immunodeficiency with Hyper-Igm, Type 4

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
myelodysplasia

Respiratory Airways:
bronchiectasis

Respiratory:
recurrent upper respiratory and lower respiratory infections

Immunology:
normal-to-elevated igm
impaired ig class-switch recombination (csr)
low-to-absent igg, iga, ige
lymphoid hyperplasia
lymph nodes lack germinal center
more
Skeletal:
osteomyelitis

Hematology:
autoimmune hemolytic anemia
immune thrombocytopenia

Abdomen Gastrointestinal:
gastrointestinal infections


Clinical features from OMIM:

608184

Human phenotypes related to Immunodeficiency with Hyper-Igm, Type 4:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 autoimmune hemolytic anemia 32 HP:0001890
2 autoimmune thrombocytopenia 32 HP:0001973
3 bronchiectasis 32 HP:0002110
4 recurrent bacterial infections 32 HP:0002718
5 immunodeficiency 32 HP:0002721
6 osteomyelitis 32 HP:0002754
7 recurrent upper respiratory tract infections 32 HP:0002788
8 absence of lymph node germinal center 32 HP:0002849
9 myelodysplasia 32 HP:0002863
10 impaired ig class switch recombination 32 HP:0002959
11 recurrent infection of the gastrointestinal tract 32 HP:0004798

MGI Mouse Phenotypes related to Immunodeficiency with Hyper-Igm, Type 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.35 AICDA CD40 CD40LG TNFSF13B UNG
2 immune system MP:0005387 9.02 AICDA CD40 CD40LG TNFSF13B UNG

Drugs & Therapeutics for Immunodeficiency with Hyper-Igm, Type 4

Search Clinical Trials , NIH Clinical Center for Immunodeficiency with Hyper-Igm, Type 4

Genetic Tests for Immunodeficiency with Hyper-Igm, Type 4

Genetic tests related to Immunodeficiency with Hyper-Igm, Type 4:

# Genetic test Affiliating Genes
1 Hyper Igm Syndrome Type 4 29
2 Immunodeficiency with Hyper Igm Type 4 29

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 4

MalaCards organs/tissues related to Immunodeficiency with Hyper-Igm, Type 4:

41
Lymph Node, B Cells

Publications for Immunodeficiency with Hyper-Igm, Type 4

Articles related to Immunodeficiency with Hyper-Igm, Type 4:

# Title Authors Year
1
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. ( 12840068 )
2003

Variations for Immunodeficiency with Hyper-Igm, Type 4

Expression for Immunodeficiency with Hyper-Igm, Type 4

Search GEO for disease gene expression data for Immunodeficiency with Hyper-Igm, Type 4.

Pathways for Immunodeficiency with Hyper-Igm, Type 4

Pathways related to Immunodeficiency with Hyper-Igm, Type 4 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 CD40 CD40LG TNFSF13B
2
Show member pathways
12.3 AICDA CD40 CD40LG TNFSF13B
3
Show member pathways
12.29 CD40 CD40LG TNFSF13B
4 12.15 AICDA CD40LG TNFSF13B
5
Show member pathways
12.03 CD40 CD40LG TNFSF13B
6 11.73 CD40 CD40LG
7 11.69 CD40 CD40LG
8 11.34 AICDA CD40LG
9 11.31 CD40 CD40LG TNFSF13B
10 11.29 CD40 CD40LG
11 11.23 CD40 CD40LG
12 11.17 CD40 CD40LG
13
Show member pathways
11 CD40 CD40LG TNFSF13B
14 10.95 CD40 CD40LG
15 10.91 CD40 CD40LG
16 10.85 CD40 CD40LG
17 10.49 AICDA CD40 CD40LG UNG

GO Terms for Immunodeficiency with Hyper-Igm, Type 4

Biological processes related to Immunodeficiency with Hyper-Igm, Type 4 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.69 CD40 CD40LG TNFSF13B
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.57 CD40 CD40LG
3 cellular response to lipopolysaccharide GO:0071222 9.56 AICDA CD40
4 platelet activation GO:0030168 9.55 CD40 CD40LG
5 T cell costimulation GO:0031295 9.54 CD40LG TNFSF13B
6 regulation of immune response GO:0050776 9.54 CD40 CD40LG TNFSF13B
7 B cell differentiation GO:0030183 9.52 AICDA CD40LG
8 positive regulation of T cell proliferation GO:0042102 9.49 CD40LG TNFSF13B
9 positive regulation of B cell proliferation GO:0030890 9.48 CD40 TNFSF13B
10 B cell proliferation GO:0042100 9.46 CD40 CD40LG
11 positive regulation of interleukin-12 production GO:0032735 9.43 CD40 CD40LG
12 positive regulation of endothelial cell apoptotic process GO:2000353 9.4 CD40 CD40LG
13 tumor necrosis factor-mediated signaling pathway GO:0033209 9.33 CD40 CD40LG TNFSF13B
14 somatic hypermutation of immunoglobulin genes GO:0016446 9.32 AICDA UNG
15 isotype switching GO:0045190 9.26 AICDA CD40LG
16 regulation of immunoglobulin secretion GO:0051023 8.96 CD40 CD40LG
17 immunoglobulin secretion GO:0048305 8.62 CD40LG TNFSF13B

Molecular functions related to Immunodeficiency with Hyper-Igm, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 8.62 CD40LG TNFSF13B

Sources for Immunodeficiency with Hyper-Igm, Type 4

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
Content
Loading form....