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IMD63
MCID: IMM201
MIFTS: 23
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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: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:
MalaCards categories:
Global: Genetic diseases Infectious diseases Anatomical: Gastrointestinal diseases Skin diseases Immune diseases |
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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 marrow, and related phenotypes are decreased fetal movement and splenomegaly 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. |
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Human phenotypes related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:31 (show all 14)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618495 |
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MalaCards organs/tissues related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:40
T Cells,
Nk Cells,
Bone Marrow,
Bone,
B Cells
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Articles related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity:
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Genes related to Immunodeficiency 63 with Lymphoproliferation and Autoimmunity (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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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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