| H00086 | |
| H番号 | H00086 |
| 名称 | 高 IgM 症候群 (常染色体劣性型) |
| 概要 | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (b), hyper-IgM syndrome (HIM), represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. Seventy per cent of the cases are X-linked in inheritance, and others are autosomal recessive. In the autosomal recessive hyper IgM syndromes, the problem lies in the nucleotide-editing enzymes AICD or UNG. These enzymes are only present in the germinal center B cells, and defects in either disrupt B-cell development and antibody production. Patients with these syndromes typically have recurrent bacterial infections and often have lymphoid hyperplasia. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | nt06504(H00086) Base excision repair |
| 病因遺伝子 | (HIGM1) CD40LG [HSA:959] [KO:K03161] (HIGM2) AICDA [HSA:57379] [KO:K10989] (HIGM3) CD40 [HSA:958] [KO:K03160] (HIGM5) UNG [HSA:7374] [KO:K03648] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A01.05 ICD-10: D80 MeSH: D053306 OMIM: 308230 605258 606843 608106 |
| 文献 | 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: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:26903548 (CD40LG) 著者 Hubbard N, Hagin D, Sommer K, Song Y, Khan I, Clough C, Ochs HD, Rawlings DJ, Scharenberg AM, Torgerson TR タイトル Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome. 雑誌 Blood 127:2513-22 (2016) DOI:10.1182/blood-2015-11-683235 PMID:11007475 (AICDA) 著者 Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A タイトル Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). 雑誌 Cell 102:565-75 (2000) DOI:10.1016/s0092-8674(00)00079-9 PMID:9842907 (CD40) 著者 Revy P, Geissmann F, Debre M, Fischer A, Durandy A タイトル Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells. 雑誌 Eur J Immunol 28:3648-54 (1998) DOI:10.1002/(SICI)1521-4141(199811)28:11<3648::AID-IMMU3648>3.0.CO;2-U PMID:12958596 (UNG) 著者 Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A タイトル Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. 雑誌 Nat Immunol 4:1023-8 (2003) DOI:10.1038/ni974 |