University of Wisconsin Hematology

Immunity, immunodeficiency syndromes and AIDS

Immune system biology

  1. Mantovani and Garlanda. Humoral Innate Immunity and Acute-Phase Proteins. NEJM 2023;388:439

Immunodeficiency disorders/AIDS

  1. Tange et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020;40:24
  2. Natkunam et al. Immunodeficiency-associated lymphoproliferative disorders: time for reappraisal? Blood 2018;132:1871
  3. Kastner D. Hereditary Periodic Fever Syndromes. Hematology 2005:74-81
  4. Delmonte and Notarangelo. Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency. Blood 2020;135:610(Good summary of a variety of immunodeficiency syndromes)
  5. British Committee for Standards in Haematology Clinical Haematology Task Force. Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen.  BMJ 1996;312:430
  6. Notarangelo L. Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematology 2009: 139(ALPS, CVID)
  7. Lekstrom-Himes J, Gallin J. Immunodeficiency diseases caused by defects in phagocytes. NEJM 2000;343:1703
  8. Buckley R. Primary immunodeficiency diseases due to defects in lymphocytes. NEJM 2000;343:1313
  9. Vajdic et al. Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency? Blood 2010;116:1228
  10. Abolhassani et al. Current genetic landscape in common variable immune deficiency. Blood 2020;135:656
  11. Donkó et al. Clinical and functional spectrum of RAC2-related immunodeficiency. Blood 2024;143:1476
  12. Kuehn et al Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. NEJM 2016;374:1032(Genetic basis of CVID)
  13. Chapel et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008;112: 277(defines 5 phenotypes: no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy, and lymphoid malignancy)
  14. Wehr et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 2008;111:77
  15. Cunningham-Rundles et al. Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis. Hematology 2024;1:137
  16. Gobert et al. Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients. Brit J Haematol 2011;155:498
  17. Resnick et al. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 2012;119:1650
  18. Cunningham-Rundles C. Common variable immune deficiency: case studies. Blood 2019;134:1787
  19. Schubert et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med 2014; 20:1410(CVID-like phenotype)
  20. Imai et al.  Clinical course of patients with WASP gene mutations. Blood 2004;103:456.  (Wiskott-Aldrich syndrome)
  21. Burns et al.  Mechanisms of WASP-mediated hematologic and immunologic disease. Blood 2004;104:3454  (Wiskott-Aldrich syndrome)
  22. Thrasher A. New insights into the biology of Wiskott-Aldrich syndrome (WAS). Hematology 2009:132
  23. Arkwright et al. Autoimmunity in human primary immundeficiency diseases. Blood 2002;99:2694
  24. Seidel et al. Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. Blood 2014;124:2337
  25. Eijkhout et al. The effect of two different dosages of intravenous immunoglobulin in the incidence of recurrent infections in patients with primary hypogammaglobulinemia. A randomized, double-blind, multicenter crossover trial. Ann Intern Med 2001;135:165
  26. Netea et al. Immunodeficiency and genetic defects of pattern-recognition receptors. NEJM 2011;364:60
  27. Mullighan et al. Mannose-binding lectin status is associated with risk of major infection following myeloablative sibling allogeneic hematopoietic stem cell transplantation. Blood 2008;112:2120
  28. Vishnu and Aboulafia. Haematological manifestations of human immune deficiency virus infection. Br JHaem 2015;171:695
  29. Navarro and Kaplan. AIDS-related lymphoproliferative disease. Blood 2006;107:13
  30. Semba et al. The Impact of Anemia on Energy and Physical Functioning in Individuals With AIDS. Arch Intern Med 2005;165:2229
  31. Vishnu and Aboulafia. Haematological manifestations of human immune deficiency virus infection. Br J Haematol 2015; 171:695
  32. Zonios et al. Idiopathic CD4+ lymphocytopenia: natural history and prognostic factors. Blood 2008;112:287
  33. Crispino and Horwitz. GATA factor mutations in hematologic disease. Blood 2017;129:2103
  34. Spinner et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 2014;123:809
  35. Vinh et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood 2010;115:1519(GATA-2 deficiency)
  36. Dickinson et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011;118:2656(mycobacterial infection, pulmonary alveolar proteinosis, MDS and AML)
  37. Hsu et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 2011;118:2653
  38. Ganapathi et al. GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. Blood 2015;125:56
  39. McDermott et al. The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome. Blood 2011;118:4957 (WHIM = congenital immunodeficiency with warts, hypogammaglobulinemia, infections, myelokathexis with neutropenia)
  40. Badolato et al. A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome. Blood 2024;144:35
  41. Khosroshani et al. International Consensus Guidance Statement on the Management and Treatment of IgG4-Related Disease. Arth Rheum 2015;67:1688
  42. Kooshesh et al. Health Consequences of Thymus Removal in Adults. NEJM 2023;389:406