Acquired

J. Palmblad, A.E. von dem Borne

Idiopathic, immune, infectious, and idiosyncratic neutropenias
Semin Hematol 39: 113-120 (2002)
Description: Review of common causes of acquired neutropenias
PubMed citation number: 11957194

J. Bux, G. Behrens, G. Jaeger, K. Welte

A Diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases
Blood 91: 181-186 (1998)
Description: Best paper on autoimmune neutropenia in infants and young children
PubMed citation number: 9414283

D.W. Kaufman, J.P. Kelly, J.M. Jurgelon, T. Anderson, S. Issaragrisil, B.E. Wiholm, N.S. Young, P. Leaverton, M. Levy, S. Shapiro

Drugs in the aetiology of agranulocytosis and aplastic anaemia
Eur J Haematol 60: 23-30 (1996)
Description: Review of drug-induced neutropenia
PubMed citation number: 8987237

L. Balducci, C.L. Hardy, G.H. Lyman

Hematopoietic growth factors in the older cancer patient
Curr Opin Hematol 8: 170-187 (2001)
Description: Important paper emphasizing greater susceptibility of the elderly to chemotherapy-induced neutropenia
PubMed citation number: 11303151

H. Ozer, J.O. Armitage, C.L. Bennett, J. Crawford, G.D. Demetri, P.A. Pizzo, C.A. Schiffer, T.J. Smith, G. Somlo, J.C. Wade, J.L. Wade 3rd, R.J. Winn, A.J. Wozniak, M.R. Somerfield; American Society of Clinical Oncology.

2000 update of recommendations for the use of hematopoietic colony-stimulating factors: evidence-based, clinical practice guidelines. American Society of Clinical Oncology Growt Factors Expert Panel
J Cli Oncol 18: 3558-3585 (2000)
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

D.C. Dale, A.A. Bolyard, A.G. Aprikyan

Cyclic neutropenia
Semin Hematol 39: 89-94 (2002)
Description: Current review of cyclic neutropenia
PubMed citation number: 11957190

Severe congenital neutropenia (Kostmann syndrome)

R. Kostmann

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria
Acta Paediatr 45 (suppl 105): 1-78 (1956)
Description: Original description of Kostmann sydrome
PubMed citation number: 13326376

C. Zeidler, K. Welte

Kostmann syndrome and severe congenital neutropenia (Review)
Semin Hematol 39: 82-88 (2002)
Description: Current review of Kostmann syndrome
PubMed citation number: 11957189

D.C. Dale, R.E. Person, A.A Bolyard, A.G. Aprikyan, M.A. Bonilla, L.A. Boxer, G. Kannourakis, C. Zeidler, K. Welte, K.F. Benson, M. Horwitz

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
Blood 96: 2317-2322 (2000)
Description: Original report of mutations of neutrophil elastase in severe congenital neutropenia
PubMed citation number: 11001877

D.C. Dale, T.E. Cottle, C.J. Fier, A.A. Bolyard, M.A. Bonilla, L.A. Boxer, B. Cham, M.H. Freedman, G. Kannourakis, S.E. Kinsey, R. Davis, D. D. Scarlata, B. Schwinzer, C. Zeidler, K. Welte

Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry
Am J Hematol 72: 82-93 (2003)
Description: Summarizes treatment and follow-up of patients with severe chronic neutropenia (Kostmann syndrome)
PubMed citation number: 12555210

Other congenital neutropenias

P.J. Ancliff

Congenital neutropenia (Review)
Blood Rev 17: 209-216 (2003)
Description: Overview of common and rare congenital neutropenias
PubMed citation number: 14556775

Granulocyte dysfunction

Chronic granulomatous disease (CGD)

R.A. Bridges, H. Berendes, R.A. Good

A fatal granulomatosis of childhood: the clinical, pathological, and laboratory features of a new syndrome
AMA J Dis Child 97: 387-408 (1959)
Description: Chronic granulomatous disease (CGD) was first described in 1959, when it was known as "a fatal granulomatosis of childhood"
PubMed citation number: 13636694

R.L. Baehner, D.G. Nathan

Leukocyte oxidase: defective activity in chronic granulomatous disease
Science 155: 835-836 (1967)
Description: The cellular defect responsible for the CGD phenotype was characterized in 1967
PubMed citation number: 6018195

J.A. Winklestein, M.C. Marino, R.B. Jr Johnstonr J. Boyle, J. Curnutte, J.I. Gallin, H.L. Malech, S.M. Holland, H. Ochs, P. Quie, R.H. Buckley, C.B. Foster, S.J. Chanock, H. Dickler

Chronic granulomatous disease: report on a national registry of 368 patients
Medicine 79: 155-169 (2000)
Description: Major paper summarizing clinical features of chronic granulomatous disease
PubMed citation number: 10844935

P.G. Heyworth, J.T. Curnutte, J. Rae, D. Noack, D. Roos, E. van Koppen, A.R. Cross

Hematologically important mutations: X-linked chronic granulomatous disease (Second update)
Blood Cells Mol Dis 27: 16-26 (2001)
Description: Detailed molecular descriptions of mutations in X-linked and autosomal recessive CGD are described in this article
PubMed citation number: 11162142

D. Goldblatt

Current treatment options for chronic granulomatous disease
Expert Opin Pharmacother 3 (7): 857-863 (2002)
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

Leukocyte adhesion deficiency

D.C. Anderson, T.A. Springer

Leukocyte adhesion deficiency: An inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins
Annu Rev Med 38: 175-194 (1987)
Description: Paper summarizing the molecular pathogenesis of leukocyte adhesion deficiency
PubMed citation number: 3555290

K. Luhn, M.K. Wild, M. Eckhardt, R. Gerardy-Schahn, D. Vestweber D.

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter
Nat Genet 28: 69-72 (2001)
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

T. Marquardt, K. Luhn, G. Srikrishna

Correction of leukocyte adhesion deficiency type II with oral fucose
Blood 94: 3976-3985 (1999)
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

Myeloperoxidase (MPO) deficiency

F. Lanza

Clinical manifestation of myeloperoxidase deficiency (Review)
J Mol Med 76: 676-681 (1998)
Description: Review of clinical manifestations of myeloperoxidase deficiency
PubMed citation number: 9766845

P.E. Petrides

Molecular genetics of peroxidase deficiency (Review)
J Mol Med 76: 688-698 (1998)
Description: This article reviews mutations that have been identified in patients with MPO deficiency
PubMed citation number: 9766847

Hyperimmunoglobulin E syndrome

B. Grimbacher, S.M. Holland, J.I Gallin, F. Greenberg, S.C. Hill, H.L. Malech, J.A. Miller, A.C. O'Connell, J.M. Puck

Hyper-IgE syndrome with recurrent infections - An autosomal dominant multisystem disorder (Review)
N Engl J Med 340: 692-702 (1999)
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

Other granulocyte dysfunction disorders

J.A. Lekstrom-Himes, J.I. Gallin

Immunodeficiency diseases caused by defects in phagocytes
N Engl J Med 343: 1703-1714 (2000)
Description: Important overview of known defects in neutrophil function
PubMed citation number: 11106721

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