Immunodeficiency by defective expression of HLA class 2

General Information (adopted from Orphanet):

Synonyms, Signs: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B, INCLUDED
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E, INCLUDED
SEVERE COMBINED IMMUNODEFICIENCY, HLA CLASS II-NEGATIVE
SCID, HLA CLASS II-NEGATIVE BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED
BLS, TYPE II
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D, INCLUDED
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C, INCLUDED
BARE LYMPHOCYTE SYNDROME
BLS
HLA class 2-negative severe combined immunodeficiency
Bare lymphocyte syndrome type 2
Number of Symptoms 36
OrphanetNr: 572
OMIM Id: 209920
ICD-10: D81.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0000010) Recurrent urinary tract infections 56 / 7739
2
(HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
3
(HPO:0007041) Chronic lymphocytic meningitis 1 / 7739
4
(HPO:0002383) Encephalitis 41 / 7739
5
(HPO:0001080) Biliary tract abnormality 26 / 7739
6
(HPO:0011473) Villous atrophy 14 / 7739
7
(HPO:0002583) Colitis 9 / 7739
8
(HPO:0004385) Protracted diarrhea 3 / 7739
9
(HPO:0002024) Malabsorption 142 / 7739
10
(HPO:0006562) Viral hepatitis 1 / 7739
11
(HPO:0001508) Failure to thrive 454 / 7739
12
(HPO:0002728) Chronic mucocutaneous candidiasis 14 / 7739
13
(HPO:0004432) Agammaglobulinemia 17 / 7739
14
(HPO:0003139) Panhypogammaglobulinemia 6 / 7739
15
(HPO:0001875) Neutropenia 83 / 7739
16
(HPO:0002965) Cutaneous anergy 7 / 7739
17
(HPO:0002783) Recurrent lower respiratory tract infections 8 / 7739
18
(HPO:0005386) Recurrent protozoan infections 2 / 7739
19
(HPO:0002718) Recurrent bacterial infections 75 / 7739
20
(HPO:0002841) Recurrent fungal infections 16 / 7739
21
(HPO:0004429) Recurrent viral infections 20 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Susceptible to vaccine-induced polio 1 / 7739
24
(OMIM) Reduced CD4+ count and proportionally increased CD8+ count 1 / 7739
25
(OMIM) Panhypogammaglobulinemia or agammaglobulinemia 1 / 7739
26
(OMIM) Severe autoimmune cytopenia 1 / 7739
27
(OMIM) Bacterial cholangitis 1 / 7739
28
(OMIM) Severe colitis 2 / 7739
29
(MedDRA:10036012) Poliomyelitis 1 / 7739
30
(OMIM) Frequent bacterial, viral, protozoan, and fungal infections 1 / 7739
31
(OMIM) Normal number of T and B lymphocytes 1 / 7739
32
(OMIM) Absence of humoral and cellular immune response to foreign antigens 1 / 7739
33
(OMIM) Pseudosclerosing cholangitis 1 / 7739
34
(OMIM) Liver disease, progressive 3 / 7739
35
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
(OMIM) Intraepithelial infiltration by lymphocytes, macrophages, plasma cells 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: