FADD-related immunodeficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the <i>FADD</i> gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FADD-related immunodeficiency | |
| fr | Déficit immunitaire lié à FADD | |
| de | FADD-abhängiger Immundefekt | |
| es | Inmunodeficiencia asociada al gen FADD | |
| it | Immunodeficienza FADD-correlata | |
| nl | FADD-gerelateerde immuundeficiëntie | |
| pt | Imunodeficiência FADD-relacionada | |
| pl | Niedobór odporności zwiazany z FADD | |
| cs | FADD-vázaná imunodeficience | |
| uk | Імунодефіцит, повязаний з FADD | |
| zh | FADD基因相关免疫缺陷 | |
| tr | FADD-ilişkili immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613759 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | index | validated |
| MONDO | 0013408 | E | validated | |
| UMLS | C4509831 | 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 (2):
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FADD | Disease-causing germline mutation(s) in | Assessed | HGNC:3573 | ENSG00000168040 | 602457 | 11q13.3 | Fas associated via death domain | 21109225[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 21109225[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21109225[PMID] |
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
8 annotations · validated 2017-04-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001410 | Decreased liver function | |
| HP:0001298 | Encephalopathy | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0001395 | Hepatic fibrosis | |
| Occasional (29-5%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 21109225[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306550
- This record as JSON: /data/d/306550.json