| H00101 | |
| H番号 | H00101 |
| 名称 | 他の食細胞の障害 |
| 概要 | 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. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | OMIM: 214500 214450 607624 245480 254600 260400 |
| 文献 | PMID:15096561 著者 Lim MS, Elenitoba-Johnson KS. タイトル The molecular pathology of primary immunodeficiencies. 雑誌 J Mol Diagn 6:59-83 (2004) DOI:10.1016/S1525-1578(10)60493-X PMID:11964737 著者 Etzioni A タイトル Novel aspects of phagocytic cell disorders. 雑誌 Curr Opin Allergy Clin Immunol 1:535-40 (2001) DOI:10.1097/00130832-200112000-00007 PMID:11701548 著者 Dinauer MC, Lekstrom-Himes JA, Dale DC タイトル Inherited Neutrophil Disorders: Molecular Basis and New Therapies. 雑誌 Hematology Am Soc Hematol Educ Program 303-318 (2000) DOI:10.1182/asheducation-2000.1.303 PMID:17162365 著者 Kumar A, Teuber SS, Gershwin ME. タイトル Current perspectives on primary immunodeficiency diseases. 雑誌 Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 PMID:17952897 著者 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. タイトル Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. 雑誌 J Allergy Clin Immunol 120:776-94 (2007) DOI:10.1016/j.jaci.2007.08.053 |