KEGG   DISEASE: Other phagocyte defectsHelp
Entry
H00101                      Disease                                

Name
Other phagocyte defects
  Subgroup
Chediak-Higashi syndrome [DS:H02021]
Griscelli syndrome [DS:H02022]
Neutrophil specific granule deficiency [DS:H02024]
Myeloperoxidase deficiency [DS:H02025]
Glucose 6-phosphate dehydrogenase deficiency [DS:H01375]
Shwachman-Diamond syndrome [DS:H00439]
Description
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations throughout the CHS1/LYST gene. Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. GS is characterized by partial albinism, hepatosplenomegaly, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia. Abnormal-beta-actin disease accompanies neutrophil chemotactic dysfunction. Neutrophil specific granule deficiency is a rare disorder of neutrophil function characterized by a lack of neutrophil secondary granule proteins and associated with recurrent bacterial infections. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (C/EBP) epsilon. Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-chromosomally transmitted disorder. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Shwachman-Diamond syndrome (SDS) is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. The only gene known to be associated with SDS is SBDS, which encodes a ribosome maturation protein.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00101  Other phagocyte defects
BRITE hierarchy
Gene
CHS1 [HSA:1130] [KO:K22937]
MYO5A [HSA:4644] [KO:K10357]
RAB27A [HSA:5873] [KO:K07885]
MLPH [HSA:79083] [KO:K22235]
ACTB [HSA:60] [KO:K05692]
CEBPE [HSA:1053] [KO:K10051]
MPO [HSA:4353] [KO:K10789]
G6PD [HSA:2539] [KO:K00036]
SBDS [HSA:51119] [KO:K14574]
Other DBs
OMIM: 214500 214450 607624 245480 254600 260400
Reference
  Authors
Lim MS, Elenitoba-Johnson KS.
  Title
The molecular pathology of primary immunodeficiencies.
  Journal
J Mol Diagn 6:59-83 (2004)
DOI:10.1016/S1525-1578(10)60493-X
Reference
  Authors
Kharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U
  Title
Griscelli syndrome: a new phenotype with circumscribed pigment loss?
  Journal
Dermatol Online J 13:17 (2007)
Reference
  Authors
Nunoi H, Yamazaki T, Kanegasaki S
  Title
Neutrophil cytoskeletal disease.
  Journal
Int J Hematol 74:119-24 (2001)
DOI:10.1007/BF02981993
Reference
  Authors
Dinauer MC, Lekstrom-Himes JA, Dale DC
  Title
Inherited Neutrophil Disorders: Molecular Basis and New Therapies.
  Journal
Hematology Am Soc Hematol Educ Program 303-318 (2000)
DOI:10.1182/asheducation-2000.1.303
Reference
  Authors
Etzioni A
  Title
Novel aspects of phagocytic cell disorders.
  Journal
Curr Opin Allergy Clin Immunol 1:535-40 (2001)
Reference
  Authors
Cappellini MD, Fiorelli G
  Title
Glucose-6-phosphate dehydrogenase deficiency.
  Journal
Lancet 371:64-74 (2008)
DOI:10.1016/S0140-6736(08)60073-2
Reference
  Authors
Dror Y
  Title
Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.
  Journal
Expert Rev Mol Med 10:e38 (2008)
DOI:10.1017/S1462399408000938
Reference
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
PMID:9737224
  Authors
Ten RM.
  Title
Primary immunodeficiencies.
  Journal
Mayo Clin Proc 73:865-72 (1998)
DOI:10.4065/73.9.865
Reference
  Authors
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
  Title
Genetic diagnosis of primary immune deficiencies.
  Journal
Immunol Allergy Clin North Am 28:387-412, x (2008)
DOI:10.1016/j.iac.2008.01.004
Reference
  Authors
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
  Title
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  Journal
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053

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