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
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ICD-10: |
D81.7 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0000010) | Recurrent urinary tract infections | 56 / 7739 | ||||
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(HPO:0002788) | Recurrent upper respiratory tract infections | 31 / 7739 | ||||
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(HPO:0007041) | Chronic lymphocytic meningitis | 1 / 7739 | ||||
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(HPO:0002383) | Encephalitis | 41 / 7739 | ||||
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(HPO:0001080) | Biliary tract abnormality | 26 / 7739 | ||||
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(HPO:0011473) | Villous atrophy | 14 / 7739 | ||||
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(HPO:0002583) | Colitis | 9 / 7739 | ||||
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(HPO:0004385) | Protracted diarrhea | 3 / 7739 | ||||
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(HPO:0002024) | Malabsorption | 142 / 7739 | ||||
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(HPO:0006562) | Viral hepatitis | 1 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0002728) | Chronic mucocutaneous candidiasis | 14 / 7739 | ||||
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(HPO:0004432) | Agammaglobulinemia | 17 / 7739 | ||||
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(HPO:0003139) | Panhypogammaglobulinemia | 6 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(HPO:0002965) | Cutaneous anergy | 7 / 7739 | ||||
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(HPO:0002783) | Recurrent lower respiratory tract infections | 8 / 7739 | ||||
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(HPO:0005386) | Recurrent protozoan infections | 2 / 7739 | ||||
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(HPO:0002718) | Recurrent bacterial infections | 75 / 7739 | ||||
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(HPO:0002841) | Recurrent fungal infections | 16 / 7739 | ||||
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(HPO:0004429) | Recurrent viral infections | 20 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Susceptible to vaccine-induced polio | 1 / 7739 | ||||
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(OMIM) | Reduced CD4+ count and proportionally increased CD8+ count | 1 / 7739 | ||||
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(OMIM) | Panhypogammaglobulinemia or agammaglobulinemia | 1 / 7739 | ||||
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(OMIM) | Severe autoimmune cytopenia | 1 / 7739 | ||||
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(OMIM) | Bacterial cholangitis | 1 / 7739 | ||||
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(OMIM) | Severe colitis | 2 / 7739 | ||||
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(MedDRA:10036012) | Poliomyelitis | 1 / 7739 | ||||
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(OMIM) | Frequent bacterial, viral, protozoan, and fungal infections | 1 / 7739 | ||||
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(OMIM) | Normal number of T and B lymphocytes | 1 / 7739 | ||||
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(OMIM) | Absence of humoral and cellular immune response to foreign antigens | 1 / 7739 | ||||
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(OMIM) | Pseudosclerosing cholangitis | 1 / 7739 | ||||
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(OMIM) | Liver disease, progressive | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Intraepithelial infiltration by lymphocytes, macrophages, plasma cells | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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