Hyper-IgM syndrome without susceptibility to opportunistic infections
Synonyms: HIGM without susceptibility to opportunistic infections
- Type
- Disease
- Group
- Disorder
- Status
- active
Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyper-IgM syndrome without susceptibility to opportunistic infections | HIGM without susceptibility to opportunistic infections |
| fr | Syndrome hyper-IgM sans susceptibilité aux infections opportunistes | HIGM sans susceptibilité aux infections opportunistes |
| de | Hyper-IgM-Syndrom ohne opportunistische Infektionen | HIGM ohne opportunistische Infektionen |
| es | Síndrome de hiper IgM sin susceptibilidad a infecciones oportunistas | HIGM sin susceptibilidad a infecciones oportunistas |
| it | Sindrome iper-IgM senza suscettibilità alle infezioni opportunistiche | HIGM senza suscettibilità alle infezioni opportunistiche |
| nl | Hyper-IgM-syndroom zonder vatbaarheid voor opportunistische infecties | HIGM zonder vatbaarheid voor opportunistische infecties |
| pt | Síndrome hiper-IgM sem infeções oportunísticas | |
| pl | Zespół hiper-IgM bez podatności na zakażenia oportunistyczne | HIGM bez podatności na zakażenia oportunistyczne |
| cs | Hyper IgM syndrom bez náchylnosti k oportunním infekcím | HIGM syndrom bez náchylnosti k oportunním infekcím |
| uk | Синдром гіпер-IgM без схильності до опортуністичних інфекцій | HIGM без чутливості до опортуністичних інфекцій |
| zh | 高IgM综合征不易患机会性感染 | HIGM不伴机会致病菌易感 |
| tr | Fırsatçı enfeksiyonlara yatkınlığı olmayan hiper-IgM sendromu | Fırsatçı enfeksiyonlara duyarlılık ile seyretmeyen HIGM |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605258 | BTNT | validated | |
| OMIM | 608106 | BTNT | validated | |
| OMIM | 608184 | BTNT | validated | |
| ICD-10 | D80.5 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0015976 | E | validated | |
| MeSH | D053306 | E | validated | |
| UMLS | C5190886 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:331240Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| AICDA | ORPHA:101089Hyper-IgM syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:13203 | ENSG00000111732 | 605257 | 12p13.31 | activation induced cytidine deaminase | 11007475[PMID] |
| INO80 | ORPHA:723146Hyper-IgM syndrome due to INO80 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:26956 | ENSG00000128908 | 610169 | 15q15.1 | INO80 complex ATPase subunit | 25312759[PMID] |
| UNG | ORPHA:101092Hyper-IgM syndrome type 5 | Disease-causing germline mutation(s) in | Assessed | HGNC:12572 | ENSG00000076248 | 191525 | 12q24.11 | uracil DNA glycosylase | 12958596[PMID]_15967827[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/183666
- This record as JSON: /data/d/183666.json