Lymphopenia and Lymphocyte Disorders
Diagnosis and Pathophysiology
Atypical cellular disorders.
McClain KL, Natkunam Y, Swerdlow SH.
Hematology (Am Soc Hematol Educ Program). 2004:283-296.
Description: Review discussing the pathophysiology and clinical manifestations of several atypical cellular disorders including Langerhans cell histiocytosis (LCH), sinus histiocytosis with massive lymphadenopathy (SHML) or Rosai-Dorfman disease, and Castleman's disease (CD).
PubMed citation number: 15561688
Congenital and acquired neutropenia.
Berliner N, Horwitz M, Loughran TP Jr.
Hematology (Am Soc Hematol Educ Program). 2004:63-79.
Description: Review of the pathogenesis of congenital and acquired neutropenia with discussion of the genetic basis for congenital syndromes, the appropriate evaluation and treatment of acquired syndromes, and the pathogenesis and clinical manifestations of large granular lymphocyte (LGL) leukemia.
PubMed citation number: 15561677
T cell dynamics in HIV-1 infection.
Douek DC, Picker LJ, Koup RA.
Annu Rev Immunol. 2003;21:265-304.
Description: Review discussing the pathophysiology and clinical manifestations of HIV-1 infection with respect to the effects on T cell homeostasis and regeneration.
PubMed citation number: 12524385
Homeostasis and T cell regulation.
Stockinger B, Kassiotis G, Bourgeois C.
Curr Opin Immunol. 2004;16:775-779.
Description: Discussion of the mechanisms of T-cell homeostasis, including the interactions among antigen-presenting cells, regulatory T-cells, and cytokines.
PubMed citation number: 15511672
Hematological findings in SARS patients and possible mechanisms.
Yang M, Li CK, Li K, et al.
Int J Mol Med. 2004;14:311-315.
Description: Review of the various hematologic perturbations seen in SARS, including discussion of the possible mechanisms underlying the characteristic lymphopenia.
PubMed citation number: 15254784
The Wiskott-Aldrich syndrome.
Ochs HD.
Semin Hematol. 1998;35:332-345.
Description: Comprehensive review of Wiskott-Aldrich syndrome, including discussion of its diagnosis, clinical manifestations, pathophysiology, molecular basis, and treatment.
PubMed citation number: 9801262
WASp in immune system organization and function.
Thrasher AJ.
Nat Rev Immunol. 2002;2:635-646.
Description: Excellent review of the different roles of the Wiskott-Aldrich syndrome protein.
PubMed citation number: 12209132
Severe combined immunodeficiency: a model disease for molecular immunology and therapy.
Fischer A, Le Deist F, Hacein-Bey-Abina S, et al.
Immunol Rev. 2005;203:98-109.
Description: Discussion of the molecular mechanisms affecting T-cell differentiation, which causes SCIDs, and the utility of hematopoietic stem cell transplantation to correct the defects. The review also discusses the potential for gene therapy to correct SCIDs.
PubMed citation number: 15661024
Cytokines and immunodeficiency diseases.
Leonard WJ.
Nat Rev Immunol. 2001;1:200-208.
Description: A review of how defects in various cytokine signaling pathways results in a SCID phenotype. PubMed citation number: 11905829
Treatment
Unrelated donor bone marrow transplantation for correction of lethal congenital immunodeficiencies.
Filipovich AH, Shapiro RS, Ramsay NK, et al.
Blood. 1992;80:270-276.
Description: Case reports of unrelated BMT for children with severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome, and Chediak-Higashi syndrome with acceptable survival and complication rates.
PubMed citation number: 1611094
Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience.
Knutsen AP, Wall DA.
J Clin Immunol. 2000;20:466-476.
Description: Report of a clinical trial using umbilical cord blood stem cell transplantation to treat severe T-cell immune deficiency disorders, including severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia, combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome. The authors report a “rapid and reliable recovery of immune function, low risk of GvHD, and low viral transmission rate” with umbilical cord blood transplantations in this population.
PubMed citation number: 11202237
Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.
Buckley RH, Schiff SE, Schiff RI, et al.
N Engl J Med. 1999;340:508-516.
Description: Review of 89 patients with severe combined immunodeficiency treated with hematopoietic stem-cell transplants from 1982-1988.
PubMed citation number: 10021471
Review
Primary immunodeficiency diseases.
Bonilla FA, Geha RS.
J Alleg Clin Immunol. 2003;111:S571-S581.
Description: “This review introduces the major clinical manifestations of primary immunodeficiency disorders, along with descriptions of essential elements of the pathophysiology of those disorders that have been defined at the molecular level.”
PubMed citation number: 12592303
The mechanisms of immune diversification and their disorders.
De Villartay JP, Fischer A, Durandy A.
Nat Rev Immunol. 2003;3:962-972.
Description: Review of the mechanisms involved with the diversification of the immune system and how defects in these mechanisms relate to certain immunodeficiencies.
PubMed citation number: 14647478
A historical review of bone marrow transplantation for immunodeficiencies.
Buckley RH.
J Allergy Clin Immunol. 2004;113:793-800.
Description: Detailed review of the history of bone marrow transplantation for immunodeficiency, with discussion of the current indications for and effectiveness of transplantation for disorders including SCID, Wiskott-Aldrich syndrome, Omenn syndrome, leukocyte adhesion deficiency, MHC antigen deficiency syndromes, Chediak-Higashi syndrome, DiGeorge syndrome, and others.
PubMed citation number: 15100688
Primary immunodeficiency disorders: antibody deficiency.
Ballow M.
J Allerg Clin Immunol. 2002;109:581-591.
Description: Concise clincial review of the antibody deficiency diseases.
PubMed citation number: 11941303