IMD63
MCID: IMM201
MIFTS: 42
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Immunodeficiency 63 with Lymphoproliferation and Autoimmunity (IMD63)
Categories:
Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Skin diseases
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MalaCards integrated aliases for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:
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:
MalaCards categories:
Global: Genetic diseases Infectious diseases Anatomical: Immune diseases Gastrointestinal diseases Skin diseases |
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. |
Human phenotypes related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618495 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:46
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MalaCards organs/tissues related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:40
Nk Cells,
Bone Marrow,
T Cells,
B Cells
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Articles related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:
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ClinVar genetic disease variations for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:6
UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:73
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Search
GEO
for disease gene expression data for Immunodeficiency 63 with Lymphoproliferation and Autoimmunity.
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Pathways related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:(show all 40)
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Cellular components related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:
Biological processes related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:(show all 20)
Molecular functions related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity according to GeneCards Suite gene sharing:
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