IMD63
MCID: IMM201
MIFTS: 23

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 56 73 6
Il2rb Deficiency 56 73
Cd122 Deficiency 56 73
Imd63 56 73
Interleukin 2 Receptor, Beta, Deficiency of 56
Deficiency of Interleukin 2 Receptor Beta 73

Characteristics:

OMIM:

56
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:



Summaries for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

OMIM : 56 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)

MalaCards based summary : Immunodeficiency 63 with Lymphoproliferation and Autoimmunity, is also known as il2rb deficiency. An important gene associated with Immunodeficiency 63 with Lymphoproliferation and Autoimmunity is IL2RB (Interleukin 2 Receptor Subunit Beta). Affiliated tissues include t cells, nk cells and bone, and related phenotypes are decreased fetal movement and failure to thrive

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

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 urinary tract infections 31 HP:0000010
9 recurrent otitis media 31 HP:0000403
10 diarrhea 31 HP:0002014
11 lymphadenopathy 31 HP:0002716
12 increased antibody level in blood 31 HP:0010702
13 autoimmune hemolytic anemia 31 HP:0001890
14 abnormal intestine morphology 31 HP:0002242

Symptoms via clinical synopsis from OMIM:

56
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

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
T Cells, Nk Cells, Bone, Bone Marrow, B Cells, Skin

Publications for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Articles related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:

# Title Authors PMID Year
1
A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. 56 6
31040184 2019
2
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance. 56 6
31040185 2019
3
Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta. 56
7770771 1995

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 IL2RB, LEU77PROundetermined variant Pathogenic 635829
2 IL2RB IL2RB, SER40LEUundetermined variant Pathogenic 635830
3 IL2RB IL2RB, GLN96TERundetermined variant Pathogenic 635831
4 IL2RB NM_000878.5(IL2RB):c.656_664CCTGGAGCC[1] (p.Pro222_Ser224del)short repeat Pathogenic 635832 22:37532298-37532306 22:37136258-37136266

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

GO Terms for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Sources for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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