We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Primary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5.
- Authors
Gratzinger, Dita; Jaffe, Elaine S; Chadburn, Amy; Chan, John K C; de Jong, Daphne; Goodlad, John R; Said, Jonathan; Natkunam, Yasodha
- Abstract
<bold>Objectives: </bold>The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations.<bold>Methods: </bold>Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies.<bold>Results: </bold>Autoimmune lymphoproliferative syndrome (ALPS) is a prototypical immune dysregulation-type immunodeficiency, with defects in T-cell signaling or apoptosis, expansion of T-cell subsets, and predisposition to hemophagocytic lymphohistiocytosis. DNA repair defects directly predispose to malignancy. Low immunoglobulin immunodeficiencies such as common variable immunodeficiency (CVID) have underlying T-cell repertoire abnormalities predisposing to autoimmunity and B-cell lymphoproliferations. The full spectrum of B-cell lymphoproliferative disorders occurs in primary immunodeficiency.<bold>Conclusions: </bold>Lymphoproliferations in primary immunodeficiency mirror those in other immunodeficiency settings, with monomorphic B- and sometimes T lymphoproliferative disorders enriched in DNA repair defects. Distinctive T-cell subset expansions in ALPS, CVID, and related entities can mimic lymphoma, and recognition of double-negative T-cell or cytotoxic T-cell expansions is key to avoid overdiagnosis.
- Subjects
IMMUNOLOGICAL deficiency syndrome complications; EDUCATION; IMMUNOLOGICAL deficiency syndromes; LYMPHOPROLIFERATIVE disorders; DIAGNOSIS
- Publication
American Journal of Clinical Pathology, 2017, Vol 147, Issue 2, p204
- ISSN
0002-9173
- Publication type
journal article
- DOI
10.1093/ajcp/aqw215