IMD63
MCID: IMM201
MIFTS: 19

Immunodeficiency 63 with Lymphoproliferation and Autoimmunity (IMD63)

Categories: Genetic diseases, Immune 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 6
Interleukin 2 Receptor, Beta, Deficiency of 57
Il2rb Deficiency 57
Cd122 Deficiency 57
Imd63 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

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)

MalaCards based summary : Immunodeficiency 63 with Lymphoproliferation and Autoimmunity, is also known as interleukin 2 receptor, beta, deficiency of. 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.

Related Diseases for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Symptoms & Phenotypes for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

Symptoms via clinical synopsis from OMIM:

57
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)

Genitourinary Bladder:
urinary tract infections, recurrent

Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
ichthyosis
eczematous dermatitis
lymphocytic infiltrate

Abdomen Gastrointestinal:
diarrhea
enteropathy
lymphocytic infiltrate

Respiratory:
respiratory infections, recurrent

Head And Neck Ears:
otitis media, 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:

41
T Cells, Nk Cells, Bone, Bone Marrow, 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. 8 71
31040185 2019
2
A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. 8 71
31040184 2019
3
Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta. 8
7770771 1995

Variations for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IL2RB IL2RB, LEU77PRO undetermined variant Pathogenic
2 IL2RB IL2RB, SER40LEU undetermined variant Pathogenic
3 IL2RB IL2RB, GLN96TER undetermined variant Pathogenic
4 IL2RB NM_000878.5(IL2RB): c.656_664CCTGGAGCC[1] (p.Pro222_Ser224del) short repeat Pathogenic 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....