HIGM4
MCID: IMM131
MIFTS: 35

Immunodeficiency with Hyper-Igm, Type 4 (HIGM4)

Categories: Blood diseases, Immune diseases, Rare 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 70
Higm4 57 12 20 58
Hyper-Igm Syndrome Type 4 12 58 29
Immunodeficiency with Hyper-Igm Type 4 12 15
Immunodeficiency, with Hyper Igm, Type 4 39
Immunodeficiency with Hyper Igm Type 4 20
Hyper-Igm Syndrome 4 57
Hyper Igm Syndrome 4 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
immunodeficiency with hyper-igm, type 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060760
OMIM® 57 608184
ICD10 32 D80.5
ICD10 via Orphanet 33 D80.5
UMLS via Orphanet 71 C1842413
Orphanet 58 ORPHA101091
MedGen 41 C1842413
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 4, also known as higm4, is related to immunodeficiency with hyper-igm, type 3 and immunodeficiency with hyper-igm, type 2. An important gene associated with Immunodeficiency with Hyper-Igm, Type 4 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are PEDF Induced Signaling and Akt Signaling. Affiliated tissues include lymph node, and related phenotypes are immunodeficiency and recurrent upper respiratory tract infections

Disease Ontology : 12 A hyper IgM syndrome that is 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 3 29.9 CD40LG CD40 AICDA
2 immunodeficiency with hyper-igm, type 2 29.6 UNG CD40LG CD40 AICDA
3 cd40 ligand deficiency 29.5 CD40LG CD40 CD27 AICDA
4 immunodeficiency with hyper-igm, type 1 28.7 UNG TNFSF13B CD40LG CD40 CD27 AICDA
5 congenital rubella 10.1 UNG CD40LG
6 autoimmune lymphoproliferative syndrome 10.1
7 light fixation seizure syndrome 10.1 CD40LG CD40
8 geotrichosis 10.0 CD40LG CD40
9 sulfamethoxazole allergy 10.0 CD40LG CD40
10 inflammatory bowel disease 16 10.0 CD40LG CD40
11 igg4-related disease 10.0 TNFSF13B AICDA
12 primary thrombocytopenia 10.0 TNFSF13B CD40LG
13 plasmodium vivax malaria 9.9 CD40LG CD40
14 splenic marginal zone lymphoma 9.9 CD40 AICDA
15 waldenstroem's macroglobulinemia 9.9 CD40LG CD40
16 anemia, autoimmune hemolytic 9.9 TNFSF13B CD40LG
17 atrophic gastritis 9.9 ERCC6 AICDA
18 autoimmune disease of blood 9.9 TNFSF13B CD40LG
19 schuurs-hoeijmakers syndrome 9.9 UNG CD27 AICDA
20 isolated growth hormone deficiency 9.8 UNG CD27 AICDA
21 mulchandani-bhoj-conlin syndrome 9.8 CD40LG CD27 AICDA
22 transient hypogammaglobulinemia of infancy 9.8 TNFRSF13C CD27
23 mixed connective tissue disease 9.8 TNFSF13B CD40LG
24 autosomal dominant non-syndromic intellectual disability 9.8 UNG CD27 AICDA
25 mantle cell lymphoma 9.8 CD40LG CD40 AICDA
26 cryptococcal meningitis 9.7 TNFSF13B TNFRSF13C
27 cryoglobulinemia 9.7 TNFSF13B CD40LG CD27
28 neuromyelitis optica 9.7 TNFSF13B CD40LG CD27
29 autoimmune disease of musculoskeletal system 9.7 TNFSF13B CD40LG CD40
30 mature b-cell neoplasm 9.7 CD40 AICDA
31 behcet syndrome 9.7 TNFSF13B CD40LG CD40
32 diffuse large b-cell lymphoma 9.7 TNFSF13B CD40 AICDA
33 agammaglobulinemia, x-linked 9.6 TNFRSF13C CD40LG CD40
34 lupus erythematosus 9.6 TNFRSF13C CD40LG CD40
35 autoimmune disease of exocrine system 9.6 TNFSF13B TNFRSF13C CD40LG
36 burkitt lymphoma 9.5 TNFSF13B CD40LG CD40 AICDA
37 immunodeficiency with hyper-igm, type 5 9.5 UNG ERCC6 CD40LG CD40 AICDA
38 myeloma, multiple 9.5 TNFSF13B CD40 CD27
39 follicular lymphoma 9.4 TNFRSF13C CD40 CD27 AICDA
40 lymphoma, mucosa-associated lymphoid type 9.3 TNFSF13B TNFRSF13C CD40 AICDA
41 b-cell lymphoma 9.3 TNFSF13B TNFRSF13C CD40 AICDA
42 autoimmune disease 9.3 TNFSF13B TNFRSF13C CD40LG CD40
43 potocki-shaffer syndrome 9.3 TNFSF13B TNFRSF13C CD40 CD27
44 thrombocytopenia 9.2 TNFSF13B TNFRSF13C CD40LG CD40
45 rheumatoid arthritis 9.2 TNFSF13B TNFRSF13C CD40LG CD40
46 immune deficiency disease 9.0 UNG TNFSF13B CD40LG CD40 CD27 AICDA
47 lymphoma, non-hodgkin, familial 9.0 TNFSF13B TNFRSF13C CD40 CD27 AICDA
48 macroglobulinemia 9.0 TNFSF13B TNFRSF13C CD40LG CD40 CD27
49 multiple sclerosis 9.0 TNFSF13B TNFRSF13C CD40LG CD40 CD27
50 cone-rod dystrophy 2 9.0 TNFSF13B TNFRSF13C CD40LG CD40 CD27

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

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 recurrent upper respiratory tract infections 31 HP:0002788
3 myelodysplasia 31 HP:0002863
4 osteomyelitis 31 HP:0002754
5 bronchiectasis 31 HP:0002110
6 autoimmune hemolytic anemia 31 HP:0001890
7 autoimmune thrombocytopenia 31 HP:0001973
8 recurrent bacterial infections 31 HP:0002718
9 recurrent infection of the gastrointestinal tract 31 HP:0004798
10 absence of lymph node germinal center 31 HP:0002849
11 impaired ig class switch recombination 31 HP:0002959

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 9.56 AICDA CD27 CD40 CD40LG ERCC6 TNFRSF13C
2 immune system MP:0005387 9.23 AICDA CD27 CD40 CD40LG ERCC6 TNFRSF13C

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

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 4

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

40
Lymph Node

Publications for Immunodeficiency with Hyper-Igm, Type 4

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

# Title Authors PMID Year
1
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. 61 57
12840068 2003
2
Hyper-IgM, neutropenia, mild infections and low response to polyclonal stimulation: hyper-IgM syndrome or common variable immunodeficiency? 61
22230404 2011

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 TNFSF13B TNFRSF13C CD40LG CD40 CD27
2
Show member pathways
13.04 TNFSF13B TNFRSF13C CD40LG CD40 CD27
3
Show member pathways
12.98 TNFSF13B TNFRSF13C CD40LG CD40 CD27
4
Show member pathways
12.92 TNFSF13B TNFRSF13C CD40LG CD40 CD27
5
Show member pathways
12.51 TNFSF13B TNFRSF13C CD40LG CD40 AICDA
6
Show member pathways
12.35 TNFSF13B TNFRSF13C CD40LG CD40
7
Show member pathways
12.34 CD40LG CD40 CD27
8 12.25 TNFSF13B CD40LG AICDA
9
Show member pathways
12.25 TNFSF13B TNFRSF13C CD40LG CD40 CD27
10 11.57 TNFSF13B TNFRSF13C CD40LG CD40
11
Show member pathways
11.44 TNFSF13B CD40LG CD40
12 11.38 CD40LG AICDA
13 11.28 TNFSF13B TNFRSF13C CD40LG CD40
14
Show member pathways
11.27 TNFSF13B TNFRSF13C CD40LG CD40 CD27
15 11.25 CD40LG CD40
16 11.05 CD40LG CD40
17 11.03 CD40LG CD40
18 10.99 CD40LG CD40
19 10.6 UNG TNFRSF13C CD40LG CD40 AICDA

GO Terms for Immunodeficiency with Hyper-Igm, Type 4

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.92 TNFRSF13C CD40LG CD40 CD27

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.67 TNFSF13B CD40LG CD40
2 B cell differentiation GO:0030183 9.56 CD40LG AICDA
3 positive regulation of interleukin-12 production GO:0032735 9.55 CD40LG CD40
4 activation of JUN kinase activity GO:0007257 9.54 ERCC6 CD40LG
5 B cell proliferation GO:0042100 9.52 CD40LG CD40
6 base-excision repair GO:0006284 9.51 UNG ERCC6
7 positive regulation of T cell proliferation GO:0042102 9.5 TNFSF13B TNFRSF13C CD40LG
8 positive regulation of endothelial cell apoptotic process GO:2000353 9.48 CD40LG CD40
9 isotype switching GO:0045190 9.46 UNG CD40LG
10 somatic hypermutation of immunoglobulin genes GO:0016446 9.43 UNG AICDA
11 CD40 signaling pathway GO:0023035 9.4 CD40LG CD40
12 regulation of immunoglobulin production GO:0002637 9.37 CD40LG CD40
13 T cell costimulation GO:0031295 9.33 TNFSF13B TNFRSF13C CD40LG
14 B cell costimulation GO:0031296 9.26 TNFSF13B TNFRSF13C
15 positive regulation of B cell proliferation GO:0030890 9.13 TNFSF13B TNFRSF13C CD40
16 tumor necrosis factor-mediated signaling pathway GO:0033209 9.02 TNFSF13B TNFRSF13C CD40LG CD40 CD27

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 TNFSF13B CD40LG

Sources for Immunodeficiency with Hyper-Igm, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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