IMD19
MCID: IMM081
MIFTS: 44
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Immunodeficiency 19 (IMD19)
Categories:
Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases
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MalaCards integrated aliases for Immunodeficiency 19:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy death in infancy without bone marrow transplantation HPO:31
immunodeficiency 19:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Infectious diseases Anatomical: Immune diseases Respiratory diseases |
OMIM® :
57
Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011). (615617) (Updated 05-Mar-2021)
MalaCards based summary : Immunodeficiency 19, also known as cd3-delta deficiency, is related to granulomatous disease, chronic, autosomal recessive, 3 and immunodeficiency 17, and has symptoms including diarrhea An important gene associated with Immunodeficiency 19 is CD3D (CD3d Molecule), and among its related pathways/superpathways are Phospholipase-C Pathway and TCR Signaling (Qiagen). Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are failure to thrive and recurrent respiratory infections Disease Ontology : 12 A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has material basis in homozygous or compound heterozygous mutation in CD3D on chromosome 11q23.3. UniProtKB/Swiss-Prot : 73 Immunodeficiency 19: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype. |
Human phenotypes related to Immunodeficiency 19:31 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615617 (Updated 05-Mar-2021)UMLS symptoms related to Immunodeficiency 19:diarrhea MGI Mouse Phenotypes related to Immunodeficiency 19:46
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MalaCards organs/tissues related to Immunodeficiency 19:40
Bone Marrow,
Bone,
T Cells,
Nk Cells,
B Cells
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Articles related to Immunodeficiency 19:
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ClinVar genetic disease variations for Immunodeficiency 19:6 (show all 43)
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Search
GEO
for disease gene expression data for Immunodeficiency 19.
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Pathways related to Immunodeficiency 19 according to GeneCards Suite gene sharing:(show all 31)
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Cellular components related to Immunodeficiency 19 according to GeneCards Suite gene sharing:
Biological processes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:(show all 17)
Molecular functions related to Immunodeficiency 19 according to GeneCards Suite gene sharing:
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