Combined immunodeficiency due to TFRC deficiency
Synonyms: CID due to TFRC deficiency · TFRC-related combined immunodeficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to TFRC deficiency | CID due to TFRC deficiency · TFRC-related combined immunodeficiency |
| fr | Déficit immunitaire combiné par déficit en TFRC | CID par déficit en TFRC · DIC par déficit en TFRC · Déficit immunitaire combiné lié à TFRC |
| de | Kombinierter Immundefekt durch TFRC-Mangel | CID durch TFRC-Defekt · TFRC-assoziierter kombinierter Immundefekt |
| es | Inmunodeficiencia combinada por deficiencia de TFRC | IDC por deficiencia de TFRC · Inmunodeficiencia combinada asociada a TFRC · Inmunodeficiencia combinada asociada al gen TFRC |
| it | Immunodeficienza combinata correlata al deficit di TFRC | |
| nl | Gecombineerde immuundeficiëntie door TFRC-deficiëntie | CID door TFRC-deficiëntie · TFRC-gerelateerde gecombineerde immuundeficiëntie |
| pt | Imunodeficiência combinada por deficiência de TFRC | |
| pl | Złożony niedobór odporności zależny od TFRC | = en |
| cs | Kombinovaný imunodeficit z deficitu TRFC | = en |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом ТФРК | КІД через дефіцит ТФРК · Комбінований імунодефіцит, повязаний з ТФРК |
| zh | TFRC缺陷导致联合免疫缺陷 | TFRC相关联合免疫缺陷 |
| tr | TFRC eksikliğine bağlı kombine immün yetmezlik | TFRC eksikliğine bağlı CID · TFRC-ilişkili kombine immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616740 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0014760 | E | validated | |
| UMLS | C5568133 | 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TFRC | Disease-causing germline mutation(s) in | Assessed | HGNC:11763 | ENSG00000072274 | 190010 | 3q29 | transferrin receptor | 26642240[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 26642240[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26642240[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/476113
- This record as JSON: /data/d/476113.json