体质性中性粒细胞减少症
Congenital neutropenia
ORPHA:101987疾病组
定义 英文原文（暂无中文）
A rare group of genetic primary immunodeficiencies characterized by impaired neutrophil maturation or function. Neutropenia ranges from mild to severe and may be cyclic, isolated, or syndromic. It is defined by a triad of severe infections, diverse comorbidities, and/or increased leukemic risk, with severity and frequency determined by the underlying gene defect.
别名
Constitutional neutropenia
相关基因 22来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| AP3B1 | adaptor related protein complex 3 subunit beta 1 | ORPHA:664500 |
| CLPB | ClpB family mitochondrial disaggregase | ORPHA:486 |
| CSF3R | colony stimulating factor 3 receptor | ORPHA:420702 |
| CXCR2 | C-X-C motif chemokine receptor 2 | ORPHA:420699 |
| CXCR4 | C-X-C motif chemokine receptor 4 | ORPHA:51636 |
| ELANE | elastase, neutrophil expressed | ORPHA:2686 |
| G6PC3 | glucose-6-phosphatase catalytic subunit 3 | ORPHA:331176 |
| GFI1 | growth factor independent 1 transcriptional repressor | ORPHA:486 |
| HAX1 | HCLS1 associated protein X-1 | ORPHA:99749 |
| JAGN1 | jagunal vesicle mediated transporter 1 | ORPHA:423384 |
| LAMTOR2 | late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 | ORPHA:90023 |
| LYST | lysosomal trafficking regulator | ORPHA:167 |
| RAB27A | RAB27A, member RAS oncogene family | ORPHA:79477 |
| SLC37A4 | solute carrier family 37 member 4 | ORPHA:79259 |
| SRP19 | signal recognition particle 19 | ORPHA:486 |
| SRP54 | signal recognition particle 54 | ORPHA:675767 |
| TAFAZZIN | tafazzin, phospholipid-lysophospholipid transacylase | ORPHA:111 |
| TCIRG1 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | ORPHA:486 |
| USB1 | U6 snRNA biogenesis phosphodiesterase 1 | ORPHA:221046 |
| VPS13B | vacuolar protein sorting 13 homolog B | ORPHA:193 |
| VPS45 | vacuolar protein sorting 45 homolog | ORPHA:369852 |
| WAS | WASP actin nucleation promoting factor | ORPHA:86788 |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）