IMD63
MCID: IMM201
MIFTS: 42

Immunodeficiency 63 with Lymphoproliferation and Autoimmunity (IMD63)

Categories: Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Skin diseases

Aliases & Classifications for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

MalaCards integrated aliases for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:

Name: Immunodeficiency 63 with Lymphoproliferation and Autoimmunity 57 12 73 6
Il2rb Deficiency 57 12 73
Imd63 57 12 73
Immunodeficiency 63 12 15
Cd122 Deficiency 57 73
Interleukin 2 Receptor, Beta, Deficiency of 57
Deficiency of Interleukin 2 Receptor Beta 73

Characteristics:

OMIM®:

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

Miscellaneous:
onset in utero or infancy
patients may die in childhood


HPO:

31
immunodeficiency 63 with lymphoproliferation and autoimmunity:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111997
OMIM® 57 618495
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
UMLS 71 C5193126

Summaries for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

OMIM® : 57 Immunodeficiency-63 with lymphoproliferation and autoimmunity (IMD63) is an autosomal recessive disorder characterized by immune dysregulation. Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative (summary by Zhang et al., 2019). (618495) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 63 with Lymphoproliferation and Autoimmunity, also known as il2rb deficiency, is related to rheumatoid factor-negative polyarticular juvenile idiopathic arthritis and oligoarticular juvenile idiopathic arthritis. An important gene associated with Immunodeficiency 63 with Lymphoproliferation and Autoimmunity is IL2RB (Interleukin 2 Receptor Subunit Beta), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include nk cells, bone marrow and t cells, and related phenotypes are decreased fetal movement and failure to thrive

Disease Ontology : 12 A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has material basis in homozygous or compound heterozygous mutation in IL2RB on chromosome 22q12.3.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 63 with lymphoproliferation and autoimmunity: An autosomal recessive disorder characterized by immune dysregulation resulting in lymphoid proliferation, dermatitis, enteropathy, autoantibodies, hypergammaglobulinemia, and immunodeficiency with recurrent infections. Patients show increased susceptibility to viral infections, particularly cytomegalovirus disease.

Related Diseases for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Diseases related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 rheumatoid factor-negative polyarticular juvenile idiopathic arthritis 10.2 IL2RB IL2RA
2 oligoarticular juvenile idiopathic arthritis 10.2 IL2RB IL2RA
3 inflammatory bowel disease 28 10.1 IL2RA IL15
4 ceftazidime allergy 10.1 IL7 IL15
5 chronic nk-cell lymphocytosis 10.0 IL15 B3GAT1
6 immunodeficiency 54 10.0 IL15 B3GAT1
7 radiculopathy 10.0 IL7 IL15
8 virus associated hemophagocytic syndrome 10.0 IL2RB IL2
9 berylliosis 10.0 IL2RB IL2
10 extrinsic allergic alveolitis 10.0 IL2RA IL15
11 extramedullary plasmacytoma 10.0 IL2RB IL2
12 prolymphocytic leukemia 9.9 JAK3 IL2RA
13 lymphadenitis 9.9 IL2RB IL2RA
14 boutonneuse fever 9.9 IL2RB IL2
15 red cell aplasia 9.9 IL2RA IL2
16 tuberculoid leprosy 9.9 IL2RA IL2
17 wells syndrome 9.9 IL2RA IL2
18 immunodeficiency 31c 9.9 IL2RA IL2
19 cervicitis 9.9 IL2RA IL2
20 pleural tuberculosis 9.9 IL2RA IL2
21 pure red-cell aplasia 9.9 IL2RA IL2
22 intermediate uveitis 9.9 IL2RA IL2
23 nk cell deficiency 9.9 IL2 IL15
24 endogenous depression 9.9 IL2RB IL2
25 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9 IL2RA IL2
26 capillary leak syndrome 9.9 IL2 IL15
27 microscopic colitis 9.9 IL2 IL15
28 alopecia universalis congenita 9.9 JAK3 IL2
29 autoimmune disease of endocrine system 9.8 IL2RA IL2
30 coccidiosis 9.8 IL2 IL15
31 childhood t-cell acute lymphoblastic leukemia 9.8 IL7 IL2
32 myelofibrosis 9.8 JAK3 IL2RA IL15
33 limited scleroderma 9.8 IL2RA IL2
34 autoimmune disease of skin and connective tissue 9.8 IL2 IL15
35 pulmonary sarcoidosis 9.8 IL2RA IL2
36 mature t-cell and nk-cell lymphoma 9.8 JAK3 IL2
37 acute graft versus host disease 9.8 IL2RB IL2RA IL2
38 b-cell expansion with nfkb and t-cell anergy 9.7 IL2RB IL2RA IL2
39 posterior uveitis 9.7 IL2RB IL2RA IL2
40 hairy cell leukemia 9.7 IL2RB IL2RA IL2
41 diphtheria 9.7 IL2RB IL2RA IL2
42 filariasis 9.7 IL7 IL2
43 immunodeficiency 41 with lymphoproliferation and autoimmunity 9.7 IL2RA IL2 IL15
44 t-cell lymphoblastic leukemia/lymphoma 9.7 IL2RB IL2RA IL2
45 visceral leishmaniasis 9.7 IL2RA IL2 IL15
46 behcet syndrome 9.7 IL2RA IL2 IL15
47 celiac disease 1 9.7 IL2RA IL2 IL15
48 peripheral t-cell lymphoma 9.7 JAK3 IL2RB IL2
49 dermatitis, atopic 9.7 IL2RB IL2RA IL2
50 t-cell adult acute lymphocytic leukemia 9.7 JAK3 IL2RA IL2

Graphical network of the top 20 diseases related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:



Diseases related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Symptoms & Phenotypes for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Human phenotypes related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 decreased fetal movement 31 very rare (1%) HP:0001558
2 failure to thrive 31 HP:0001508
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 recurrent respiratory infections 31 HP:0002205
6 ichthyosis 31 HP:0008064
7 immunodeficiency 31 HP:0002721
8 recurrent otitis media 31 HP:0000403
9 recurrent urinary tract infections 31 HP:0000010
10 diarrhea 31 HP:0002014
11 lymphadenopathy 31 HP:0002716
12 abnormal intestine morphology 31 HP:0002242
13 autoimmune hemolytic anemia 31 HP:0001890
14 increased circulating antibody level 31 HP:0010702

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Immunology:
immunodeficiency
autoimmunity
lymphadenopathy
hypergammaglobulinemia
food allergies
more
Hematology:
autoimmune hemolytic anemia

Prenatal Manifestations Movement:
decreased fetal movements (in some patients)

Head And Neck Ears:
otitis media, recurrent

Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
ichthyosis
eczematous dermatitis
lymphocytic infiltrate

Abdomen Gastrointestinal:
diarrhea
enteropathy
lymphocytic infiltrate

Respiratory:
respiratory infections, recurrent

Genitourinary Bladder:
urinary tract infections, recurrent

Respiratory Lung:
pneumonitis

Clinical features from OMIM®:

618495 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 IL15 IL2 IL2RA IL2RB IL7 JAK3
2 hematopoietic system MP:0005397 9.43 IL15 IL2 IL2RA IL2RB IL7 JAK3
3 immune system MP:0005387 9.1 IL15 IL2 IL2RA IL2RB IL7 JAK3

Drugs & Therapeutics for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Genetic Tests for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Anatomical Context for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

MalaCards organs/tissues related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:

40
Nk Cells, Bone Marrow, T Cells, B Cells

Publications for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Articles related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:

# Title Authors PMID Year
1
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance. 57 6
31040185 2019
2
A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. 6 57
31040184 2019
3
Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta. 57
7770771 1995
4
Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes. 61
2573059 1989

Variations for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

ClinVar genetic disease variations for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL2RB NM_000878.5(IL2RB):c.656_664CCTGGAGCC[1] (p.Pro222_Ser224del) Microsatellite Pathogenic 635832 rs1601598133 22:37532298-37532306 22:37136258-37136266
2 IL2RB NM_000878.5(IL2RB):c.230T>C (p.Leu77Pro) SNV Pathogenic 635829 22:37538526-37538526 22:37142486-37142486
3 IL2RB NM_000878.5(IL2RB):c.119C>T (p.Ser40Leu) SNV Pathogenic 635830 22:37539645-37539645 22:37143605-37143605
4 IL2RB IL2RB, GLN96TER SNV Pathogenic 635831

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:

73
# Symbol AA change Variation ID SNP ID
1 IL2RB p.Leu77Pro VAR_083103 rs934523851

Expression for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Search GEO for disease gene expression data for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity.

Pathways for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Pathways related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:

(show all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 JAK3 IL7 IL2RB IL2RA IL2 IL15
2
Show member pathways
13.58 JAK3 IL7 IL2RB IL2RA IL2 IL15
3
Show member pathways
13.44 JAK3 IL7 IL2RB IL2RA IL2 IL15
4
Show member pathways
13.31 JAK3 IL7 IL2RB IL2RA IL2 IL15
5
Show member pathways
13.19 JAK3 IL7 IL2RB IL2RA IL2 IL15
6
Show member pathways
13.14 JAK3 IL7 IL2RB IL2RA IL2 IL15
7
Show member pathways
13.09 IL7 IL2RB IL2RA IL2 IL15
8
Show member pathways
13.06 JAK3 IL2RB IL2RA IL2
9
Show member pathways
12.97 JAK3 IL2RB IL2RA IL2
10
Show member pathways
12.82 JAK3 IL7 IL2RB IL2RA IL2
11
Show member pathways
12.65 JAK3 IL2RB IL2RA IL2
12 12.64 JAK3 IL7 IL2RB IL2RA IL2 IL15
13
Show member pathways
12.52 JAK3 IL7 IL2RB IL2RA IL2 IL15
14
Show member pathways
12.45 JAK3 IL2RB IL2RA IL2
15 12.42 JAK3 IL2RB IL2RA IL2
16
Show member pathways
12.21 IL2RB IL2RA IL2
17 12.2 JAK3 IL2RB IL2RA IL2 IL15
18
Show member pathways
12.16 IL2RB IL2RA IL2
19 12.1 IL2RB IL2RA IL15
20
Show member pathways
12.06 IL2RA IL2 IL15
21
Show member pathways
12.03 IL2RB IL2RA IL15
22
Show member pathways
12.01 JAK3 IL2RB IL2RA IL2
23
Show member pathways
11.94 JAK3 IL2RB IL2RA IL2
24
Show member pathways
11.85 IL2RB IL2RA IL2
25
Show member pathways
11.83 JAK3 IL7 IL2RB IL2RA IL2 IL15
26 11.72 IL7 IL2RB IL2RA IL2 IL15
27
Show member pathways
11.6 JAK3 IL2RB IL2RA IL2
28
Show member pathways
11.56 IL2RA IL2
29
Show member pathways
11.55 IL2RB IL2RA IL2
30 11.46 IL7 IL2RB IL2RA IL2 IL15
31
Show member pathways
11.4 JAK3 IL7 IL2RA
32 11.37 JAK3 IL2RB IL2RA IL2
33 11.24 IL2RB IL2RA IL2
34
Show member pathways
11.18 IL2RB IL2RA IL2 IL15
35 11.17 IL7 IL15
36 11.17 IL7 IL2 IL15
37
Show member pathways
11.12 JAK3 IL2RB IL2RA IL2
38 11.1 JAK3 IL7
39 11.1 IL2RA IL2
40 10.96 JAK3 IL7 IL2RB IL2RA IL2 IL15

GO Terms for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Cellular components related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-2 receptor complex GO:0005893 8.62 IL2RB IL2RA

Biological processes related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.8 IL7 IL2RA IL2 IL15
2 cell-cell signaling GO:0007267 9.72 IL7 IL2 IL15
3 MAPK cascade GO:0000165 9.71 JAK3 IL2RB IL2RA IL2
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.59 IL2 IL15
5 positive regulation of phagocytosis GO:0050766 9.58 IL2RB IL15
6 positive regulation of B cell proliferation GO:0030890 9.58 IL7 IL2
7 interleukin-7-mediated signaling pathway GO:0038111 9.57 JAK3 IL7
8 T cell homeostasis GO:0043029 9.56 JAK3 IL2RA
9 cytokine-mediated signaling pathway GO:0019221 9.55 JAK3 IL7 IL2RB IL2RA IL2
10 positive regulation of activated T cell proliferation GO:0042104 9.54 IL2RA IL2
11 positive regulation of interleukin-17 production GO:0032740 9.52 IL2 IL15
12 regulation of regulatory T cell differentiation GO:0045589 9.51 IL2RA IL2
13 positive regulation of T cell differentiation GO:0045582 9.5 IL7 IL2RA IL2
14 tyrosine phosphorylation of STAT protein GO:0007260 9.48 JAK3 IL15
15 negative regulation of lymphocyte proliferation GO:0050672 9.46 IL2RA IL2
16 positive regulation of tissue remodeling GO:0034105 9.43 IL2 IL15
17 interleukin-15-mediated signaling pathway GO:0035723 9.43 JAK3 IL2RB IL15
18 regulation of T cell homeostatic proliferation GO:0046013 9.37 IL2RA IL2
19 positive regulation of T cell proliferation GO:0042102 9.26 JAK3 IL2RA IL2 IL15
20 interleukin-2-mediated signaling pathway GO:0038110 8.92 JAK3 IL2RB IL2RA IL2

Molecular functions related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 IL7 IL2 IL15
2 cytokine receptor binding GO:0005126 9.16 IL7 IL15
3 interleukin-2 binding GO:0019976 8.96 IL2RB IL2RA
4 interleukin-2 receptor activity GO:0004911 8.62 IL2RB IL2RA

Sources for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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