H00101 | |
H number | H00101 |
Name | Other phagocyte defects |
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 an 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 |
Network | - |
Gene | - |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | OMIM: 214500 214450 607624 245480 254600 260400 |
Reference | PMID:15096561 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 PMID:11964737 AUTHORS Etzioni A TITLE Novel aspects of phagocytic cell disorders. JOURNAL Curr Opin Allergy Clin Immunol 1:535-40 (2001) DOI:10.1097/00130832-200112000-00007 PMID:11701548 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 PMID:17162365 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 PMID:17952897 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 |