Title | Primary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5. |
Publication Type | Journal Article |
Year of Publication | 2017 |
Authors | Gratzinger D, Jaffe ES, Chadburn A, Chan JKC, de Jong D, Goodlad JR, Said J, Natkunam Y |
Journal | Am J Clin Pathol |
Volume | 147 |
Issue | 2 |
Pagination | 204-216 |
Date Published | 2017 Feb 01 |
ISSN | 1943-7722 |
Keywords | Education, Female, Humans, Immunologic Deficiency Syndromes, Lymphoproliferative Disorders, Male |
Abstract | Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations. Methods: Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies. Results: 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. Conclusions: 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. |
DOI | 10.1093/ajcp/aqw215 |
Alternate Journal | Am J Clin Pathol |
PubMed ID | 28395106 |
PubMed Central ID | PMC6248572 |
Related Faculty:
Amy Chadburn, M.D.