CVID10
MCID: IMM064
MIFTS: 34
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Immunodeficiency, Common Variable, 10 (CVID10)
Categories:
Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Immunodeficiency, Common Variable, 10:
Characteristics:Orphanet epidemiological data:59
deficiency in anterior pituitary function-variable immunodeficiency syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable severity onset in childhood variable manifestations HPO:32
immunodeficiency, common variable, 10:
Onset and clinical course variable expressivity Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Immune diseases Endocrine diseases Blood diseases
ICD10:
33
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OMIM
:
57
Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594). (615577)
MalaCards based summary : Immunodeficiency, Common Variable, 10, also known as deficit in anterior pituitary function and variable immunodeficiency, is related to mesomelia-synostoses syndrome and dysphagia lusoria. An important gene associated with Immunodeficiency, Common Variable, 10 is NFKB2 (Nuclear Factor Kappa B Subunit 2). Affiliated tissues include pituitary, b cells and thyroid, and related phenotypes are diplopia and failure to thrive UniProtKB/Swiss-Prot : 75 Immunodeficiency, common variable, 10: A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615577Human phenotypes related to Immunodeficiency, Common Variable, 10:59 32 (show all 45)
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MalaCards organs/tissues related to Immunodeficiency, Common Variable, 10:41
Pituitary,
B Cells,
Thyroid,
Lung,
Kidney,
Liver,
Heart
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Articles related to Immunodeficiency, Common Variable, 10:
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ClinVar genetic disease variations for Immunodeficiency, Common Variable, 10:6 (show top 50) (show all 78)
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Search
GEO
for disease gene expression data for Immunodeficiency, Common Variable, 10.
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