Neoplasms
Neoplasms of uncertain or unknown behaviour
Autosomal recessive
12p13.31
Lymphoproliferative Syndrome 2 or CD27 Deficiency is a rare form of immunodeficiency characterized by Epstein Barr Virus associated lymphoproliferative disorder with or without hemophagocytic lymphohistiocytosis, and associated with malignant lymphoma.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615122.1.1 | Lebanon | Male | Yes | Yes | Persistent EBV viremia; Lymphoprolifera... Persistent EBV viremia; Lymphoproliferative disorder; Hemophagocytosis;  | NM_001242.4:c.158G>A | Homozygous | Autosomal, Recessive | Salzer et al, 2013 | |
| 615122.1.2 | Lebanon | Female | Yes | Yes | Persistent EBV viremia; Persistent EBV viremia; | NM_001242.4:c.158G>A | Homozygous | Autosomal, Recessive | Salzer et al, 2013 | Sibling of 615122.1.... |
| 615122.2.1 | Lebanon | Male | Yes | Yes | Persistent EBV viremia; Lymphoprolifer... Persistent EBV viremia; Lymphoproliferative disorder; T-cell lymphoma; ; | NM_001242.4:c.158G>A | Homozygous | Autosomal, Recessive | Salzer et al, 2013 | |
| 615122.2.2 | Lebanon | Female | Yes | Yes | Lymphoma; Persistent EBV viremia; ; ; Lymphoma; Persistent EBV viremia; ; ; | NM_001242.4:c.158G>A | Homozygous | Autosomal, Recessive | Salzer et al, 2013 | Sibling of 615122.2.... |
| 615122.2.3 | Lebanon | Female | Yes | Yes | Lymphoma; Persistent EBV viremia; ; ; Lymphoma; Persistent EBV viremia; ; ; | NM_001242.4:c.158G>A | Homozygous | Autosomal, Recessive | Salzer et al, 2013 | Sibling of 615122.2.... |
| 615122.3 | Lebanon | Yes | Failure to thrive; Lymphopenia; Immuno... Failure to thrive; Lymphopenia; Immunodeficiency; Recurrent lower respiratory tract infections; Recurrent pneumonia; Recurrent tonsillitis; Childhood onset | NM_001242.4:c.158G>A | Homozygous | Autosomal, Recessive | Nair et al. 2018 |