Conditions / Genetic
autoimmune lymphoproliferative syndrome type 2B
info · Genetic · ICD-10: D47.9
An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.
Signs and symptoms
- Recurrent sinopulmonary infections
- Short stature
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide
- Asthma
- Recurrent herpes
- Defective B cell activation
- Reduced CD95-induced lymphocyte apoptosis
- Pneumonia
- Failure to thrive
- Inverted CD4:CD8 ratio
Also known as: ALPS with recurrent viral infections; ALPS2B; CEDS; Caspase 8 deficiency; Caspase 8 deficiency syndrome