Granulocyte Dysfunction Disorder and Granulocytopenia
Granulocytopenia (neutropenia)
ACQUIRED
Idiopathic, immune, infectious, and idiosyncratic neutropenias
Palmblad J, von dem Borne AE.
Semin Hematol. 2002;39:113-120.
Description: Review of common causes of acquired neutropenias .
PubMed citation number: 11957194
A diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases.
Bux J, Behrens G, Jaeger G, Welte K.
Blood. 1998;91:181-186.
Description: Best paper on autoimmune neutropenia in infants and young children.
PubMed citation number: 9414283
Drugs in the aetiology of agranulocytosis and aplastic anaemia
Kaufman DW, Kelly JP, Jurgelon JM, et al.
Eur J Haematol. 1996;60:23-30.
Description : Review of drug-induced neutropenia.
PubMed citation number: 8987237
Hematopoietic growth factors in the older cancer patient
Balducci L, Hardy CL, Lyman GH.
Curr Opin Hematol. 2001;8:170-187.
Description: Important paper emphasizing greater susceptibility of the elderly to chemotherapy-induced neutropenia.
PubMed citation number: 11303151
2000 update of recommendations for the use of hematopoietic colony-stimulating factors: evidence-based, clinical practice guidelines: American Society of Clinical Oncology Growth Factors Expert Panel.
Ozer H, Armitage JO, Bennett CL; American Society of Clinical Oncology.
J Clin Oncol. 2000;18:3558-3585.
Description: Important consensus guidelines on the use of hematopoietic growth factors for treatment and prophylaxis of chemotherapy-induced febrile neutropenia .
PubMed citation number: 11032599
Cyclic neutropenia
Dale DC, Bolyard AA, Aprikyan AG.
Semin Hematol. 2002;39:89-94.
Description: Current review of cyclic neutropenia.
PubMed citation number: 11957190
Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria
Kostmann R.
Acta Paediatr 1956;45:1-78.
Description: Original description of Kostmann sydrome.
PubMed citation number: 13326376
Kostmann syndrome and severe congenital neutropenia
Zeidler C, Welte K.
Semin Hematol. 2002;39:82-88.
Description: Current review of Kostmann syndrome.
PubMed citation number: 11957189
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
Dale DC, Person RE, Bolyard AA, et al.
Blood. 2000;96:2317-2322.
Description: Original report of mutations of neutrophil elastase in severe congenital neutropenia.
PubMed citation number: 11001877
Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry
Dale DC, Cottle TE, Fier CJ, et al.
Am J Hematol. 2003;72:82-93.
Description: Summarizes treatment and follow-up of patients with severe chronic neutropenia (Kostmann syndrome) .
PubMed citation number: 12555210
Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register
Ferry C, Ouachee M, Leblanc T, et al.
Bone Marrow Transplant. 2005;35:45-50.
Description: Reports that hematopoietic stem cell transplantation is feasible for patients with severe congenital neutropenia who do not respond to G-CSF, who have malignant transformation, or who are at a high risk of malignant transformation, even if an HLA-identical sibling donor is not available.
PubMed citation number: 15489867
Congenital neutropenia.
Ancliff PJ.
Blood Rev. 2003;17:209-216.
Description : Overview of common and rare congenital neutropenias.
PubMed citation number: 14556775
Granulocyte Dysfunction
CHRONIC GRANULOMATOUS DISEASE (CGD)
A fatal granulomatosis of childhood: the clinical, pathological, and laboratory features of a new syndrome.
Bridges RA, Berendes H, Good RA.
AMA J Dis Child. 1959;97:387-408.
Description : Chronic granulomatous disease (CGD) was first described in 1959, when it was known as "a fatal granulomatosis of childhood."
PubMed citation number: 13636694
Leukocyte oxidase: defective activity in chronic granulomatous disease.
Baehner RL, Nathan DG.
Science. 1967;155:835-836.
Description: The cellular defect responsible for the CGD phenotype was characterized in 1967.
PubMed citation number: 6018195
Chronic granulomatous disease: report on a national registry of 368 patients.
Winklestein JA, Marino MC, Johnston Jr RB, et al.
Medicine. 2000;79:155-169.
Description: Major paper summarizing clinical features of chronic granulomatous disease.
PubMed citation number: 10844935
Hematologically important mutations: X-linked chronic granulomatous disease (second update).
Heyworth PG, Curnutte JT, Rae J, et al.
Blood Cells Mol Dis. 2001;27:16-26.
Description: Detailed molecular descriptions of mutations in X-linked and autosomal recessive CGD are described in this article.
PubMed citation number: 11162142
Current treatment options for chronic granulomatous disease.
Goldblatt D.
Expert Opin Pharmacother. 2002;3:857-863.
Description : Review of treatment options for chronic granulomatous disease, including antibacterial and antifungal prophylaxis, interferon, stem cell transplantation, and gene therapy.
PubMed citation number: 12083986
Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.
Stasia MJ, Bordigoni P, Floret D, et al.
Hum Genet. 2005;116:72-82.
Description: Six new mutations were identified in the CYBB gene encoding the gp91phox protein deficient in X-linked CGD.
PubMed citation number: 15538631
Leukocyte adhesion deficiency: An inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins.
Anderson DC , Springer TA.
Annu Rev Med. 1987;38:175-194.
Description: Paper summarizing the molecular pathogenesis of leukocyte adhesion deficiency.
PubMed citation number: 3555290
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter.
Luhn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D.
Nat Genet 2001;28:69-72.
Description: In this article, the authors identify the first putative GDP-fucose transporter; a point mutation in its gene is responsible for the disease in a patient with LAD II.
PubMed citation number: 11326279
Correction of leukocyte adhesion deficiency type II with oral fucose.
Marquardt T, Luhn K, Srikrishna G.
Blood. 1999;94:3976-3985.
Description: In this paper, oral fucose is used as a simple, noninvasive, and effective therapy for leukocyte adhesion deficiency type II.
PubMed citation number: 10590041
Clinical manifestation of myeloperoxidase deficiency.
Lanza F.
J Mol Med. 1998;76:676-681.
Description: Review of clinical manifestations of myeloperoxidase deficiency
PubMed citation number: 9766845
Molecular genetics of peroxidase deficiency.
Petrides PE .
J Mol Med. 1998;76:688-698.
Description: This article reviews mutations that have been identified in patients with MPO deficiency .
PubMed citation number: 9766847
Hyper-IgE syndrome with recurrent infections: an autosomal dominant multisystem disorder.
Grimbacher B, Holland SM, Gallin JI, et al.
N Engl J Med. 1999;340:692-702.
Description: This article provides an overview of the hyper-IgE syndrome with recurrent infections, a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated levels of IgE in serum.
PubMed citation number: 10053178
Immunodeficiency diseases caused by defects in phagocytes.
Lekstrom-Himes JA, Gallin JI.
N Engl J Med. 2000;343:1703-1714.
Description: Important overview of known defects in neutrophil function.
PubMed citation number: 11106721