Hyper-IgM syndrome with susceptibility to opportunistic infections
Synonyms: HIGM with susceptibility to opportunistic infections
- Type
- Disease
- Group
- Disorder
- Status
- active
Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to <i>P. jiroveci</i>, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyper-IgM syndrome with susceptibility to opportunistic infections | HIGM with susceptibility to opportunistic infections |
| fr | Syndrome hyper-IgM avec susceptibilité aux infections opportunistes | HIGM avec susceptibilité aux infections opportunistes |
| de | Hyper-IgM-Syndrom mit opportunistischen Infektionen | HIGM mit opportunistischen Infektionen |
| es | Síndrome de hiper IgM con susceptibilidad a infecciones oportunistas | HIGM con susceptibilidad a infecciones oportunistas |
| it | Sindrome iper-IgM con suscettibilità alle infezioni opportunistiche | HIGM con sucettibilità alle infezioni opportunistiche |
| nl | Hyper-IgM-syndroom met vatbaarheid voor opportunistische infecties | HIGM met vatbaarheid voor opportunistische infecties |
| pt | Síndrome hiper-IgM com infeções oportunísticas | |
| pl | Zespół hiper-IgM z podatnością na zakażenia oportunistyczne | HIGM z podatnością na zakażenia oportunistyczne |
| cs | Hyper IgM syndrom s náchylností k oportunním infekcím | HIGM syndrom s náchylností k oportunním infekcím |
| uk | Синдром гіпер-IgM зі схильністю до опортуністичних інфекцій | HIGM зі сприйнятливістю до опортуністичних інфекцій |
| zh | 高IgM综合征易患机会性感染 | HIGM伴机会致病菌易感 |
| tr | Fırsatçı enfeksiyonlara yatkınlık ile seyreden hiper-IgM sendromu | Fırsatçı enfeksiyonlara duyarlılık ile seyreden HIGM |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308230 | BTNT | validated | |
| OMIM | 606843 | BTNT | validated | |
| ICD-10 | D80.5 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0015975 | E | validated | |
| UMLS | C5190885 | 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:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
Genes
0 direct · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| CD40 | ORPHA:101090Hyper-IgM syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11919 | ENSG00000101017 | 109535 | 20q13.12 | CD40 molecule | 11675497[PMID] |
| CD40LG | ORPHA:101088X-linked hyper-IgM syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:11935 | ENSG00000102245 | 300386 | Xq26.3 | CD40 ligand |
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/183663
- This record as JSON: /data/d/183663.json