Familial hyperinflammatory lymphoproliferative immunodeficiency
Synonyms: HEM1 deficiency syndrome · NCKAP1L-associated hyperinflammatory disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare autoinflammatory syndrome with immune deficiency characterized by recurrent infections (bacterial and viral) due to <i>NCKAP1L</i> mutations. Patients are present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteremia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hyperinflammatory lymphoproliferative immunodeficiency | HEM1 deficiency syndrome · NCKAP1L-associated hyperinflammatory disorder |
| fr | Immunodéficience hyper-inflammatoire lymphoproliférative familiale | Maladie hyper-inflammatoire associée à NCKAP1L · Syndrome de déficit en HEM1 |
| de | Familiärer hyperinflammatorischer lymphoproliferativer Immundefekt | HEM1-Mangel-Syndrom · NCKAP1L-assoziierte hyperinflammatorische Störung |
| es | Inmunodeficiencia linfoproliferativa hiperinflamatoria familiar | Síndrome de deficiencia de HEM1 · Trastorno hiperinflamatorio asociado a NCKAP1L |
| it | Immunodeficienza familiare iper-infiammatoria linfoproliferativa | Sindrome da deficit di HEM1 · Malattia iper-infiammatoria correlata a NCKAP1L |
| nl | Familiale hyperinflammatoire lymfoproliferatieve immuundeficiëntie | Deficiëntie van HEM1-syndroom · NCKAP1L-geassocieerde hyperinflammatoire aandoening |
| pt | Imunodeficiência linfoproliferativa hiperinflamatória familiar | Doença hiperinflamatória NCKAP1L-associada · Síndrome de deficiência HEM1 |
| pl | Rodzinny limfoproliferacyjny niedobór odporności z nadmierną reakcją zapalną | = en |
| cs | Familiární hyperinflamatorní lymfoproliferativní imunodeficience | = en |
| uk | Сімейний гіперзапальний лімфопроліферативний імунодефіцит | Синдром дефіциту HEM1 · NCKAP1L-асоційоване гіперзапальне захворювання |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618982 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| MONDO | 0850069 | E | validated | |
| UMLS | C5680415 | 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:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NCKAP1L | Disease-causing germline mutation(s) in | Assessed | HGNC:4862 | ENSG00000123338 | 141180 | 12q13.13-q13.2 | NCK associated protein 1 like | 32766723[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 32646852[PMID]_32647003[PMID]_32766723[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32646852[PMID]_32647003[PMID]_32766723[PMID]_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/619953
- This record as JSON: /data/d/619953.json