bare lymphocyte syndrome 2
ORPHA: 572
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with bare lymphocyte syndrome 2, sourced from HPO and Orphanet clinical annotations.
Reduced MHC II cell surface expressionRecurrent respiratory infectionsRecurrent infection of the gastrointestinal tractAbsent cellular immunitySinusitisFailure to thriveDiarrheaRecurrent bacterial infectionsRecurrent Staphylococcus aureus infectionsChronic mucocutaneous candidiasisRecurrent fungal infectionsDecreased circulating immunoglobulin concentrationProtracted diarrheaRecurrent viral infectionsRecurrent herpesAbnormality of humoral immunityRecurrent protozoan infectionsRecurrent candida infectionsRhinitisDecreased circulating beta-2-microglobulin levelSclerosing cholangitisChronic hepatitis due to cryptosporidium infectionAcute otitis mediaSkin rashDecreased total neutrophil countPancytopeniaAutoimmune hemolytic anemiaAutoimmune neutropeniaAutoimmune thrombocytopeniaAutoimmunityPanhypogammaglobulinemiaDecreased total T cell countDecreased mitogen-induced T-cell proliferationAbnormal CD4:CD8 ratioDysarthriaAbnormal facial shapeGait ataxiaDecreased CD4+ T cell proportion
Classification & Codes
Orphanet Code
ORPHA:572bare lymphocyte syndrome 2
| Orphanet | ORPHA:572 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO