MCID: IMM149
MIFTS: 31

Immunodeficiency 43

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 43

MalaCards integrated aliases for Immunodeficiency 43:

Name: Immunodeficiency 43 57 75
Hypoproteinemia, Hypercatabolic 57 75 29 13 55 6 73
Beta-2-Microglobulin Deficiency 57 75
Hypercatabolic Hypoproteinemia 75 37
B2m Deficiency 57 75
Imd43 57 75
Beta-2-Microglobulin 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 43:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 241600
MedGen 42 C1855796
MeSH 44 D007153
KEGG 37 H01303
UMLS 73 C1855796

Summaries for Immunodeficiency 43

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Immunodeficiency 43, also known as hypoproteinemia, hypercatabolic, is related to myeloma, multiple and nephrotic syndrome. An important gene associated with Immunodeficiency 43 is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways is Antigen processing and presentation. Affiliated tissues include skin, t cells and b cells, and related phenotypes are bronchiectasis and recurrent respiratory infections

Description from OMIM: 241600

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 64)
# Related Disease Score Top Affiliating Genes
1 myeloma, multiple 29.3 ALB B2M
2 nephrotic syndrome 29.1 ALB B2M
3 kidney disease 28.3 ALB B2M
4 immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes 11.9
5 amyloidosis beta2m 11.2
6 amyloidosis 10.1
7 lymphoma 10.0
8 orthostatic proteinuria 10.0 ALB B2M
9 diffuse glomerulonephritis 10.0 ALB B2M
10 non-secretory myeloma 10.0 ALB B2M
11 rheumatoid arthritis 10.0
12 arthritis 10.0
13 hemorrhagic fever with renal syndrome 10.0 ALB B2M
14 meningoencephalitis 10.0 ALB B2M
15 acute kidney failure 9.9 ALB B2M
16 hydronephrosis 9.9 ALB B2M
17 urinary tract obstruction 9.9 ALB B2M
18 peritonitis 9.9 ALB B2M
19 uremia 9.9 ALB B2M
20 urinary system disease 9.8 ALB B2M
21 acquired immunodeficiency syndrome 9.8 ALB B2M
22 hepatitis 9.8
23 prostatitis 9.8
24 membranous nephropathy 9.8 ALB B2M
25 breast cancer 9.7
26 carpal tunnel syndrome 9.7
27 multiple sclerosis 9.7
28 ovarian cancer 9.7
29 prostate cancer 9.7
30 vesicoureteral reflux 1 9.7
31 microvascular complications of diabetes 3 9.7
32 microvascular complications of diabetes 4 9.7
33 microvascular complications of diabetes 6 9.7
34 microvascular complications of diabetes 7 9.7
35 mononeuropathy of the median nerve, mild 9.7
36 acute leukemia 9.7
37 b-cell lymphomas 9.7
38 bronchopulmonary dysplasia 9.7
39 diabetes mellitus 9.7
40 dilated cardiomyopathy 9.7
41 hematopoietic stem cell transplantation 9.7
42 leukemia 9.7
43 nephrolithiasis 9.7
44 peripheral t-cell lymphoma 9.7
45 persistent generalized lymphadenopathy 9.7
46 bone disease 9.7
47 sleeping sickness 9.7
48 trypanosomiasis 9.7
49 pre-eclampsia 9.7
50 prostatic hypertrophy 9.7

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



Diseases related to Immunodeficiency 43

Symptoms & Phenotypes for Immunodeficiency 43

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 43:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 bronchiectasis 32 HP:0002110
2 recurrent respiratory infections 32 HP:0002205
3 radial bowing 32 HP:0002986
4 hypoplasia of the ulna 32 HP:0003022
5 hypoalbuminemia 32 HP:0003073
6 hypoproteinemia 32 HP:0003075
7 igg deficiency 32 HP:0004315

Drugs & Therapeutics for Immunodeficiency 43

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 43

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:

41
Skin, T Cells, B Cells, Nk Cells

Publications for Immunodeficiency 43

Articles related to Immunodeficiency 43:

# Title Authors Year
1
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. ( 16549777 )
2006
2
Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin. ( 2254461 )
1990

Variations for Immunodeficiency 43

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

75
# Symbol AA change Variation ID SNP ID
1 B2M p.Ala11Pro VAR_030660 rs104894481

ClinVar genetic disease variations for Immunodeficiency 43:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 B2M NM_004048.2(B2M): c.31G> C (p.Ala11Pro) single nucleotide variant Pathogenic rs104894481 GRCh37 Chromosome 15, 45003775: 45003775
2 B2M NM_004048.2(B2M): c.31G> C (p.Ala11Pro) single nucleotide variant Pathogenic rs104894481 GRCh38 Chromosome 15, 44711577: 44711577
3 B2M NM_004048.2(B2M): c.67+1G> T single nucleotide variant Pathogenic rs863225287 GRCh38 Chromosome 15, 44711614: 44711614
4 B2M NM_004048.2(B2M): c.67+1G> T single nucleotide variant Pathogenic rs863225287 GRCh37 Chromosome 15, 45003812: 45003812
5 B2M NM_004048.2(B2M): c.5C> T (p.Ser2Phe) single nucleotide variant Uncertain significance rs368160918 GRCh37 Chromosome 15, 45003749: 45003749
6 B2M NM_004048.2(B2M): c.5C> T (p.Ser2Phe) single nucleotide variant Uncertain significance rs368160918 GRCh38 Chromosome 15, 44711551: 44711551

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:

37
# 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 endoplasmic reticulum lumen GO:0005788 8.62 ALB B2M

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 8.96 ALB B2M
2 retina homeostasis GO:0001895 8.62 ALB B2M

Sources for Immunodeficiency 43

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
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