ORPHA:437552
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Synonyms: Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity · CD16 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity · CD16 deficiency |
| fr | Déficit immunitaire primaire autosomique récessif avec un défaut de cytotoxicité spontanée des cellules Natural Killer | Déficit en CD16 · Déficit immunitaire primaire autosomique récessif avec un défaut de cytotoxicité spontanée des cellules NK · Immunodéficience primaire autosomique récessive avec un défaut de cytotoxicité spontanée des cellules NK · Immunodéficience primaire autosomique récessive avec un défaut de cytotoxicité spontanée des cellules Natural Killer |
| de | Autosomal-rezessiver primärer Immundefekt mit defekter spontaner natürlicher Killer-Zellen-Zytotoxizität | Autosomal-rezessiver primärer Immundefekt mit defekter spontaner NK-Zellen-Zytotoxizität · CD16-Mangel |
| es | Inmunodeficiencia primaria autosómica recesiva con un defecto de la citotoxicidad espontánea de células natural killer | Deficiencia de CD16 · Inmunodeficiencia primaria autosómica recesiva con citotoxicidad espontánea de las células NK defectuosa · Inmunodeficiencia primaria autosómica recesiva con un defecto de la citotoxicidad espontánea de células NK |
| it | Immunodeficienza primitiva autosomica recessiva con difetto della citotossicità spontanea delle cellule natural killer | |
| nl | Autosomaal recessieve primaire immuundeficiëntie met defecte spontane natuurlijke killercel-cytotoxiciteit | Autosomaal recessieve primaire immuundeficiëntie met defecte spontane NK-cel-cytotoxiciteit · CD16-deficiëntie |
| pt | Imunodeficiência primária autossómica recessiva com defeito de citotoxicidade espontânea das células natural killer | Imunodeficiência primária autossómica recessiva com defeito de citotoxicidade espontânea das células NK |
| pl | Autosomalny recesywny pierwotny Niedobór odporności ze spontanicznym defektem cytotoksyczności komórek naturalnych zabójców | Autosomalny recesywny pierwotny Niedobór odporności ze spontanicznym defektem cytotoksyczności komórek NK |
| cs | Autozomálně recesivní primární imunodeficit s defektní spontánní cytotoxicitou NK buněk | Deficit CD16 · Autozomálně recesivní primární imunodeficience s defektní spontánní cytotoxicitou natural killer buněk |
| uk | Аутосомно-рецесивний первинний імунодефіцит з дефектною спонтанною цитотоксичністю природних кілерів | Аутосомно-рецесивний первинний імунодефіцит з дефектною спонтанною цитотоксичністю NK-клітин · Дефіцит CD16 |
| zh | 常染色体隐性遗传性原发性免疫缺陷伴有缺陷性NK细胞毒杀伤作用 | CD16 缺乏 |
| tr | Defektif doğal öldürücü hücre sitotoksisitesi ile seyreden otozomal resesif primer immün yetmezlik | Defektif spontan NK hücre sitotoksisitesi ile seyreden otozomal çekinik primer immün yetmezlik · CD16 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615707 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| MONDO | 0014313 | E | validated | |
| UMLS | C5680046 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:431156Primary immunodeficiency with predisposition to severe viral infection
rare genetic diseases; rare immunological diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FCGR3A | Disease-causing germline mutation(s) in | Assessed | HGNC:3619 | ENSG00000203747 | 146740 | 1q23.3 | Fc fragment of IgG receptor IIIa | 23006327[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23006327[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23006327[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/437552
- This record as JSON: /data/d/437552.json