IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY

General Information (adopted from Orphanet):

Synonyms, Signs: CVID8
Number of Symptoms 40
OrphanetNr:
OMIM Id: 614700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011108) Recurrent sinusitis 30 / 7739
2
(HPO:0000509) Conjunctivitis 47 / 7739
3
(HPO:0000403) Recurrent otitis media 61 / 7739
4
(HPO:0000821) Hypothyroidism 141 / 7739
5
(HPO:0001369) Arthritis 44 / 7739
6
(HPO:0100759) Clubbing of fingers 40 / 7739
7
(HPO:0002037) Inflammation of the large intestine 25 / 7739
8
(HPO:0002028) Chronic diarrhea 51 / 7739
9
(HPO:0002583) Colitis 9 / 7739
10
(HPO:0005263) Gastritis 9 / 7739
11
(HPO:0001510) Growth delay 295 / 7739
12
(HPO:0001508) Failure to thrive 454 / 7739
13
(HPO:0002720) IgA deficiency 33 / 7739
14
(HPO:0004313) Decreased antibody level in blood 47 / 7739
15
(HPO:0001873) Thrombocytopenia 224 / 7739
16
(HPO:0001876) Pancytopenia rare [HPO:skoehler] 89 / 7739
17
(HPO:0001890) Autoimmune hemolytic anemia 17 / 7739
18
(HPO:0002850) IgM deficiency 18 / 7739
19
(HPO:0001875) Neutropenia rare [HPO:skoehler] 83 / 7739
20
(HPO:0002099) Asthma 62 / 7739
21
(HPO:0006528) Chronic lung disease 5 / 7739
22
(HPO:0002205) Recurrent respiratory infections 254 / 7739
23
(HPO:0002090) Pneumonia 59 / 7739
24
(HPO:0006530) Interstitial pulmonary disease 26 / 7739
25
(HPO:0002110) Bronchiectasis 73 / 7739
26
(HPO:0002716) Lymphadenopathy 129 / 7739
27
(HPO:0002721) Immunodeficiency 97 / 7739
28
(HPO:0002719) Recurrent infections 107 / 7739
29
(HPO:0002960) Autoimmunity 78 / 7739
30
(OMIM) Deceased IgG 2 / 7739
31
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
(HPO:0003676) Progressive disorder 148 / 7739
33
(OMIM) Granuloma formation 1 / 7739
34
(OMIM) Decreased switched memory B cells 2 / 7739
35
(OMIM) Decreased NK cells 2 / 7739
36
(OMIM) Idiopathic thrombocytopenia purpura 1 / 7739
37
(MedDRA:10017860) Gastritis atrophic 1 / 7739
38
(OMIM) T cells may be increased or decreased 1 / 7739
39
(OMIM) Clubbing of the fingers 2 / 7739
40
(OMIM) Defect in B-cell differentiation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Lopez-Herrera et al. (2012) reported 5 patients from 4 unrelated consanguineous families with early-childhood onset of humoral immune deficiency and autoimmunity. In an Arabian family, 2 sibs presented in infancy with idiopathic thrombocytopenic purpura (ITP) followed by recurrent ...
Molecular genetics OMIM In 5 patients from 4 unrelated consanguineous families with CVID8 with autoimmunity, Lopez-Herrera et al. (2012) identified 4 different homozygous mutations in the LRBA gene (606453.0001-606453.0004). The first mutation was found by linkage analysis followed by candidate gene ...