IMD43
MCID: IMM149
MIFTS: 39

Immunodeficiency 43 (IMD43)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 43

MalaCards integrated aliases for Immunodeficiency 43:

Name: Immunodeficiency 43 57 12 72 15
Hypoproteinemia, Hypercatabolic 57 72 29 13 54 6 44 70
Beta-2-Microglobulin Deficiency 57 12 72
Hypercatabolic Hypoproteinemia 12 72 36
B2m Deficiency 57 12 72
Imd43 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients may be asymptomatic
two unrelated families have been reported (last curated november 2015)


HPO:

31
immunodeficiency 43:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0111981
OMIM® 57 241600
OMIM Phenotypic Series 57 PS300755
KEGG 36 H01303
MedGen 41 C1855796
UMLS 70 C1855796

Summaries for Immunodeficiency 43

Disease Ontology : 12 A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has material basis in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.

MalaCards based summary : Immunodeficiency 43, also known as hypoproteinemia, hypercatabolic, is related to orthostatic proteinuria and non-secretory myeloma. An important gene associated with Immunodeficiency 43 is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways are Antigen processing and presentation and Allograft rejection. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are recurrent respiratory infections and hypoplasia of the ulna

KEGG : 36 Hypercatabolic hypoproteinemia is a disorder of endogenous catabolism of albumin and immunoglobulin. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta-2-microglobulin (B2M) that binds two ligands, IgG and albumin. It has been suggested that a mutation in B2M gene causes this disease.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 43: A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease.

More information from OMIM: 241600 PS300755

Related Diseases for Immunodeficiency 43

Diseases related to Immunodeficiency 43 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 268)
# Related Disease Score Top Affiliating Genes
1 orthostatic proteinuria 10.3 B2M ALB
2 non-secretory myeloma 10.3 B2M ALB
3 oxirane allergy 10.3 B2M ALB
4 pyuria 10.3 B2M ALB
5 fetal erythroblastosis 10.3 FCGRT ALB
6 diamond-blackfan anemia 3 10.3 B2M ALB
7 chronic pyelonephritis 10.3 B2M ALB
8 pyelitis 10.3 B2M ALB
9 amyloidosis, hereditary, transthyretin-related 10.2 B2M ALB
10 nasal cavity lymphoma 10.2 PRF1 B2M
11 endophthalmitis 10.2 PRF1 ALB
12 danubian endemic familial nephropathy 10.2 B2M ALB
13 capillary disease 10.2 CD8A ALB
14 capillary leak syndrome 10.2 CD8A ALB
15 chronic inflammatory demyelinating polyneuritis 10.2 PRF1 CD8A
16 necrotizing fasciitis 10.1 PRF1 ALB
17 pericarditis 10.1
18 lymphangiectasis 10.1
19 ankylosing spondylitis 3 10.1 PRF1 FCGRT ALB
20 fanconi syndrome 10.1 MYO5B B2M ALB
21 riedel's fibrosing thyroiditis 10.1 CD4 ALB
22 epidural abscess 10.1 CD4 ALB
23 meningovascular neurosyphilis 10.1 CD4 ALB
24 splenic abscess 10.0 CD4 ALB
25 mediastinitis 10.0 CD4 ALB
26 gastrointestinal tuberculosis 10.0 CD4 ALB
27 intestinal tuberculosis 10.0 CD4 ALB
28 angular cheilitis 10.0 CD4 ALB
29 splenic tuberculosis 10.0 CD4 ALB
30 anti-basement membrane glomerulonephritis 10.0 CD4 ALB
31 marasmus 10.0 CD4 ALB
32 necrotic uveal melanoma 10.0 CD8A CD4
33 lung abscess 10.0 CD4 ALB
34 abdominal tuberculosis 10.0 CD4 ALB
35 early yaws 10.0 CD8A CD4
36 ventilation pneumonitis 10.0 CD8A CD4
37 diffuse infiltrative lymphocytosis syndrome 10.0 CD8A CD4
38 whipple disease 10.0 CD4 ALB
39 pleural empyema 10.0 CD4 ALB
40 latent syphilis 10.0 CD8A CD4
41 kwashiorkor 10.0 CD4 ALB
42 type 1 diabetes mellitus 23 10.0 CD8A CD4
43 autoimmune lymphoproliferative syndrome, type iia 10.0 CD8A CD4
44 parapsoriasis 10.0 CD8A CD4
45 gastroduodenitis 10.0 CD8A CD4
46 primary syphilis 10.0 CD8A CD4
47 norwegian scabies 10.0 CD8A CD4
48 cranial nerve palsy 10.0 CD4 ALB
49 bird fancier's lung 10.0 CD8A CD4
50 chronic meningitis 10.0 CD4 ALB

Graphical network of the top 20 diseases related to Immunodeficiency 43:



Diseases related to Immunodeficiency 43

Symptoms & Phenotypes for Immunodeficiency 43

Human phenotypes related to Immunodeficiency 43:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 hypoplasia of the ulna 31 HP:0003022
3 hypoalbuminemia 31 HP:0003073
4 bronchiectasis 31 HP:0002110
5 radial bowing 31 HP:0002986
6 hypoproteinemia 31 HP:0003075
7 decreased circulating igg level 31 HP:0004315

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
recurrent respiratory infections (family b)

Skeletal Limbs:
short forearms (family a)
short ulnae (family a)
bowing of the radii (family a)

Immunology:
decreased serum igg
decreased b cells (family b)
decreased nk cells (in some patients)
decreased alpha-beta cd8+ t cells (family b)
increased delta-gamma cd8+ t cells (family b)
more
Respiratory Lung:
bronchiectasis (family b)

Skin Nails Hair Skin:
granulomatous dermatitis (in some patients)
purple-red skin lesions (in some patients)
skin ulcerations (in some patients)

Laboratory Abnormalities:
hypoproteinemia due to hypercatabolism
decreased serum albumin

Clinical features from OMIM®:

241600 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 43

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 43

Cochrane evidence based reviews: hypoproteinemia, hypercatabolic

Genetic Tests for Immunodeficiency 43

Genetic tests related to Immunodeficiency 43:

# Genetic test Affiliating Genes
1 Hypoproteinemia, Hypercatabolic 29 B2M

Anatomical Context for Immunodeficiency 43

MalaCards organs/tissues related to Immunodeficiency 43:

40
T Cells, Nk Cells, B Cells

Publications for Immunodeficiency 43

Articles related to Immunodeficiency 43:

# Title Authors PMID Year
1
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. 57 54 6
16549777 2006
2
β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system. 6 57
25702838 2015
3
Disorders of immunoglobulin metabolism. 57 6
4186801 1969
4
Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin. 57
2254461 1990
5
Kinetics of FcRn-mediated recycling of IgG and albumin in human: pathophysiology and therapeutic implications using a simplified mechanism-based model. 54
17046328 2007
6
Peptostreptococcal infection in children. 61
7855547 1994

Variations for Immunodeficiency 43

ClinVar genetic disease variations for Immunodeficiency 43:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B2M NM_004048.3(B2M):c.67+1G>T SNV Pathogenic 217869 rs863225287 GRCh37: 15:45003812-45003812
GRCh38: 15:44711614-44711614
2 B2M NM_004048.3(B2M):c.5C>T (p.Ser2Phe) SNV Uncertain significance 534623 rs368160918 GRCh37: 15:45003749-45003749
GRCh38: 15:44711551-44711551
3 B2M NM_004048.4(B2M):c.85G>T (p.Val29Phe) SNV Uncertain significance 841336 GRCh37: 15:45007638-45007638
GRCh38: 15:44715440-44715440
4 B2M NM_004048.4(B2M):c.7C>T (p.Arg3Cys) SNV Uncertain significance 1011724 GRCh37: 15:45003751-45003751
GRCh38: 15:44711553-44711553
5 B2M NM_004048.3(B2M):c.31G>C (p.Ala11Pro) SNV Uncertain significance 17740 rs104894481 GRCh37: 15:45003775-45003775
GRCh38: 15:44711577-44711577
6 B2M NM_004048.3(B2M):c.159C>T (p.Ser53=) SNV Likely benign 719660 rs200164063 GRCh37: 15:45007712-45007712
GRCh38: 15:44715514-44715514

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 43:

72
# Symbol AA change Variation ID SNP ID
1 B2M p.Ala11Pro VAR_030660 rs104894481

Expression for Immunodeficiency 43

Search GEO for disease gene expression data for Immunodeficiency 43.

Pathways for Immunodeficiency 43

Pathways related to Immunodeficiency 43 according to KEGG:

36
# Name Kegg Source Accession
1 Antigen processing and presentation hsa04612

GO Terms for Immunodeficiency 43

Cellular components related to Immunodeficiency 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.02 HLA-E FCGRT CD8A CD4 B2M
2 MHC class I protein complex GO:0042612 8.96 HLA-E B2M

Biological processes related to Immunodeficiency 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.54 HLA-E CD8A B2M
2 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.32 HLA-E B2M
3 regulation of defense response to virus by virus GO:0050690 9.26 CD4 B2M
4 positive regulation of T cell mediated cytotoxicity GO:0001916 9.16 HLA-E B2M
5 immune response GO:0006955 9.02 HLA-E FCGRT CD8A CD4 B2M
6 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 8.96 HLA-E B2M

Molecular functions related to Immunodeficiency 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class I protein binding GO:0042288 8.96 HLA-E CD8A
2 beta-2-microglobulin binding GO:0030881 8.62 HLA-E FCGRT

Sources for Immunodeficiency 43

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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