Immunodeficiency, common variable, 8, with autoimmunity

Preferred Label : Immunodeficiency, common variable, 8, with autoimmunity;

Symbol : CVID8;

CISMeF acronym : CVID8;

Type : Phenotype, molecular basis known;

Description : Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease (summary by Lopez-Herrera et al., 2012). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lipopolysaccharide-responsive, beige-like anchor protein (LRBA, 606453.0001);

Laboratory abnormalities : Decreased switched memory B cells (in some patients); Decreased NK cells (in some patients); Decreased IgM; Defective T-cell proliferative responses (in some patients); Decreased IgA; T cells may be increased or decreased; Decreased IgG; Decreased numbers of T regulatory cells; Hypogammaglobulinemia (in some patients);

Prefixed ID : #614700;

Details

Origin ID

614700;

UMLS CUI

C3553512;

Automatic exact mappings (from CISMeF team)
- Common variable immunodeficiency due to an intrinsic B cell defect [ORDO Disease]
- Common variable immunodeficiency without known genetic defect [ORDO Disease]
- LRBA wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Combined immunodeficiency due to LRBA deficiency [ORDO Disease]
- Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency, Common Variable, 8, with Autoimmunity [NCIt concept]
DO Cross reference
- common variable immunodeficiency [DO Concept]
Genes related to phenotype
- Lipopolysaccharide-responsive, beige-like anchor protein [OMIM gene]
HPO term(s)
- Arthritis [HPO term]
- Asthma [HPO term]
- Atrophic gastritis [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Chronic diarrhea [HPO term]
- Chronic lung disease [HPO term]
- Chronic neutropenia [HPO term]
- Clubbing of fingers [HPO term]
- Colitis [HPO term]
- Conjunctivitis [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Decreased specific antibody response to vaccination [HPO term]
- Erythema nodosum [HPO term]
- Failure to thrive [HPO term]
- Generalized lymphadenopathy [HPO term]
- Growth delay [HPO term]
- Hypothyroidism [HPO term]
- Immunodeficiency [HPO term]
- Inflammation of the large intestine [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoma [HPO term]
- Lymphoproliferative disorder [HPO term]
- Pancytopenia [HPO term]
- Pneumonia [HPO term]
- Psoriasiform lesion [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Sepsis [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Thyroiditis [HPO term]
- Type I diabetes mellitus [HPO term]
- Uveitis [HPO term]
- Villous atrophy [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to LRBA deficiency [ORDO Disease]
- Common variable immunodeficiency due to an intrinsic B cell defect [ORDO Disease]
- Common variable immunodeficiency without known genetic defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency, Common Variable, 8, with Autoimmunity [NCIt concept]

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