H00099 | |
H番号 | H00099 |
名称 | 白血球粘着不全症 |
概要 | Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this group of disorders have been described: LAD I, II, and III. Defects in the expression of beta2-integrins and fucose- containing proteins account for LAD-I and LAD-II, respectively. In LAD-III integrin expression by leukocytes is normal, but the integrins fail to generate high avidity for their cognate endothelial-cell ligands. Mutations in the KINDLIN3 (official symbol FERMT3), a gene that encodes an intracellular protein that interacts with cytoplasmic tails of beta-integrins in hematopoietic cells, is the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), the predominant hematopoeitic-specific Rho GTPase in neutrophils also leads to leukocyte adhesion deficiency. |
カテゴリ | 原発性免疫不全症 |
ネットワーク | - |
病因遺伝子 | ITGB2 [HSA:3689] [KO:K06464] SLC35C1 [HSA:55343] [KO:K15279] FERMT3 [HSA:83706] [KO:K17084] RAC2 [HSA:5880] [KO:K07860] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | MeSH: C535887 C535755 C567555 OMIM: 116920 266265 612840 608203 |
文献 | PMID:17960151 著者 Marodi L, Notarangelo LD. タイトル Immunological and genetic bases of new primary immunodeficiencies. 雑誌 Nat Rev Immunol 7:851-61 (2007) DOI:10.1038/nri2195 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:9737224 著者 Ten RM. タイトル Primary immunodeficiencies. 雑誌 Mayo Clin Proc 73:865-72 (1998) DOI:10.4065/73.9.865 PMID:18424339 著者 Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. タイトル Genetic diagnosis of primary immune deficiencies. 雑誌 Immunol Allergy Clin North Am 28:387-412, x (2008) DOI:10.1016/j.iac.2008.01.004 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 PMID:19423742 著者 Zimmerman GA タイトル LAD syndromes: FERMT3 kindles the signal. 雑誌 Blood 113:4485-6 (2009) DOI:10.1182/blood-2009-01-198853 PMID:10758162 著者 Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D タイトル Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. 雑誌 Proc Natl Acad Sci U S A 97:4654-9 (2000) DOI:10.1073/pnas.080074897 |