Immunodeficiency with factor I anomaly
Synonyms: Complete factor I deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> and <i>Streptococcus pneumoniae</i>), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency with factor I anomaly | Complete factor I deficiency |
| fr | Déficit immunitaire associé à une anomalie du facteur I | Déficit complet en facteur I · Immunodéficience associée à une anomalie du facteur I |
| de | Immundefekt mit Faktor I-Anomalie | Faktor-I-Mangel, vollständiger |
| es | Inmunodeficiencia con anomalía del factor I | Deficiencia completa del factor I |
| it | Immunodeficienza con anomalia del fattore I | |
| nl | Immuundeficiëntie met factor I-anomalie | Complete factor I-deficiëntie |
| pt | Imunodeficiência com anomalia do fator I | |
| pl | Niedobór odporności z nieprawidłowym czynnikiem I | = en |
| cs | Imunodeficience s anomálií faktoru I | = en |
| uk | Імунодефіцит з аномалією фактора I | Повний дефіцит фактора I |
| zh | 免疫缺陷伴I因子异常 | I因子完全缺乏症 |
| tr | Faktör I anomalisi ile seyreden immün yetmezlik | Tam faktör I eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610984 | E | validated | |
| ICD-10 | D84.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.1Y | NTBT | index | validated |
| MONDO | 0012594 | E | validated | |
| UMLS | C5191010 | 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:459348Immunodeficiency due to a complement regulatory deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFI | Disease-causing germline mutation(s) in | Assessed | HGNC:5394 | ENSG00000205403 | 217030 | 4q25 | complement factor I |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 families | Worldwide | Family(ies) | Validated | 22710145[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/200418
- This record as JSON: /data/d/200418.json