primary immune disorders


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  • General

    • flu, mono-like symptoms
    • EBV association in majority
    • site: often extranodal: GI, lung, CNS
    • fatal mono
      • SCID and XLP
      • polymorphous lymphoid cells with plasmacytoid and immunoblastic differentiation
      • can have RS cells
    • reactive hyperplasia
    • lymphoma, most commonly DLBCL

  • By type

    • combined T and B
      • SCID
        • IL defect
        • fatal mono
      • hyper IgM syndrome
        • CD40 defect, unable to class switch, only IgM and IgD B cells
        • lack germinal centers
        • EBV associated (DLBCL, Hodgkin), LGL leukemia
    • antibody deficiency (CVID)
      • lymphoid hyperplasia in lung and GI tract
      • EBV (follicular hyperplasia, paracortical expansion, DLBCL, Hodgkin)
      • extranodal MZL, SLL, LPL, peripheral T cell lymphoma
    • immune dysregulation
      • X linked lymphoproliferative disorder
        • SH2D1A mutation
        • EBV: fatal mono, hepatitis, aplastic anemia, Burkitt, DLBCL
      • autoimmune lymphoproliferative syndrome
        • FAS, FASL, caspase mutation
        • apoptosis defect: CD4/CD8 double negative cells in blood
        • splenomegaly, adenopathy
        • Hodgkin (nodular LP, classical), DLBCL, Burkitt, peripheral T cell lymphoma
    • other
      • ataxia telangiectasia
        • ATM gene, DNA repair defect
        • increased AFP, radiation sensitivity
        • T cells with clonal TCR rearrangement in blood
        • DLBCL, Burkitt, T-PLL, T-ALL, Hodgkin
      • Wiskott Aldrich
        • WASP gene
        • significant T cell dysfunction
        • thrombocytopenia, small plt, eczema, autoimmune disease
        • EBV: DLBCL, Hodgkin, lymphomatoid granulomatosis
      • Nijmegen breakage syndrome
        • NBS1 mutation, DNA repair defect
        • microcephaly, radiation sensitivity
        • DLBCL, peripheral T cell lymphoma, T-LBL, T-ALL, Hodgkin
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