Recurrent infections due to specific granule deficiency
Synonyms: Neutrophil-specific granule deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recurrent infections due to specific granule deficiency | Neutrophil-specific granule deficiency |
| fr | Infections récurrentes par déficit en granules spécifiques | Déficit en granules spécifiques des neutrophiles |
| de | Rekurrente Infektionen durch spezifischen Granulamangel | Neutrophilen-spezifischer Granulamangel |
| es | Infecciones recurrentes por deficiencia de gránulos específicos | Deficiencia de gránulos específicos de neutrófilos |
| it | Infezione ricorrente da deficit di granuli specifici | Deficit dei granuli specifici dei neutrofili |
| nl | Recidiverende infecties door specifieke granulaire deficiëntie | Neutrofielspecifieke granuledeficiëntie |
| pt | Infeção recorrente por deficiência granular específica | Deficiência granular neutrófilo-específica |
| pl | Nawracające infekcje z powodu niedoboru specyficznych ziarnistości | Niedobór specyficznych ziarnistości neutrofilowych |
| cs | Opakované infekce způsobené deficitem specifických granul | Deficit specifických granul v neutrofilech |
| uk | Рецидивуючі інфекції через дефіцит специфічних гранул | Дефіцит нейтрофільних специфічних гранул |
| zh | 特异性颗粒缺乏反复感染 | 嗜中性粒细胞-特异性颗粒缺乏症 |
| tr | Spesifik granül eksikliğine bağlı tekrarlayan enfeksiyon | Nötrofile özgü granül eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245480 | BTNT | validated | |
| OMIM | 617475 | BTNT | validated | |
| ICD-10 | D71 | NTBT | attributed | validated |
| ICD-11 | 4A00.0Y | NTBT | index | validated |
| MONDO | 0009506 | E | validated | |
| MONDO | 9506 | E | validated | |
| UMLS | C5546032 | E | validated | |
| GARD | 10778 | 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:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEBPE | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1836 | ENSG00000092067 | 600749 | 14q11.2 | CCAAT enhancer binding protein epsilon | 10359588[PMID] |
| SMARCD2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11107 | ENSG00000108604 | 601736 | 17q23.3 | SWI/SNF related BAF chromatin remodeling complex subunit D2 | 28369036[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169142
- This record as JSON: /data/d/169142.json