| H00086 | |
| H number | H00086 |
| Name | Hyper IgM syndromes, autosomal recessive type |
| Description | 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. |
| Category | Immune system disease |
| Network | nt06504(H00086) Base excision repair |
| Gene | (HIGM1) CD40LG [HSA:959] [KO:K03161] (HIGM2) AICDA [HSA:57379] [KO:K10989] (HIGM3) CD40 [HSA:958] [KO:K03160] (HIGM5) UNG [HSA:7374] [KO:K03648] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A01.05 ICD-10: D80 MeSH: D053306 OMIM: 308230 605258 606843 608106 |
| Reference | 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:18424339 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 PMID:26903548 (CD40LG) AUTHORS Hubbard N, Hagin D, Sommer K, Song Y, Khan I, Clough C, Ochs HD, Rawlings DJ, Scharenberg AM, Torgerson TR TITLE Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome. JOURNAL Blood 127:2513-22 (2016) DOI:10.1182/blood-2015-11-683235 PMID:11007475 (AICDA) AUTHORS 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 TITLE Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). JOURNAL Cell 102:565-75 (2000) DOI:10.1016/s0092-8674(00)00079-9 PMID:9842907 (CD40) AUTHORS Revy P, Geissmann F, Debre M, Fischer A, Durandy A TITLE Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells. JOURNAL 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) AUTHORS 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 TITLE Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. JOURNAL Nat Immunol 4:1023-8 (2003) DOI:10.1038/ni974 |