Autoimmune lymphoproliferative syndrome with recurrent infections
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB ALPS2B CEDS ALPS with recurrent infections |
| Number of Symptoms | 18 |
| OrphanetNr: | 275517 |
| OMIM Id: |
607271
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| ICD-10: |
D72.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Immunodeficiency syndrome with autoimmunity
-Rare genetic disease -Rare immune disease Lymphoproliferative syndrome -Rare genetic disease -Rare immune disease -Rare oncologic disease |
Symptom Information:
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0002028) | Chronic diarrhea | 51 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000964) | Eczema | 81 / 7739 | ||||
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(HPO:0005419) | Decreased T cell activation | 4 / 7739 | ||||
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(HPO:0005384) | Defective B cell activation | 1 / 7739 | ||||
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(HPO:0005425) | Recurrent sinopulmonary infections | 10 / 7739 | ||||
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(HPO:0002099) | Asthma | 62 / 7739 | ||||
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(HPO:0002090) | Pneumonia | 59 / 7739 | ||||
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(HPO:0002716) | Lymphadenopathy | 129 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | No response to pneumococcal vaccination | 1 / 7739 | ||||
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(OMIM) | Decreased cellular caspase-8 levels | 1 / 7739 | ||||
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(OMIM) | Defective natural killer cell (NK) activation | 1 / 7739 | ||||
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(OMIM) | Defective CD95-induced apoptosis of peripheral blood lymphocytes | 1 / 7739 | ||||
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(OMIM) | Herpes simplex virus infection, mucocutaneous | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral ... |
| Clinical Description OMIM |
Chun et al. (2002) reported 2 sibs, a 12-year-old female and an 11-year-old male, born of consanguineous parents, who presented with lymphadenopathy and splenomegaly associated with an immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections. Both ... |
| Molecular genetics OMIM | In 2 affected sibs from a consanguineous family with caspase-8 deficiency, Chun et al. (2002) identified a homozygous mutation in the CASP8 gene (601763.0001). The unaffected mother, father, and sister were heterozygous for the mutation. |