Abstract：
OBJECTIVE: Through a case of deficiency of adenosine deaminase 2 (DADA2) to improve domestic clinicians\' understanding of the disease, and to review the literature, promote dermatologists for clinical secondary primary lesion diagnosis.
METHODS: Analysis of a case diagnosed with DADA2 deficiency of clinical manifestations, laboratory, imaging examination and treatment methods, and discussion through literature analysis.
RESULTS: The child with recurrent fever, limbs nodular erythema, gradually in the limbs. CT of lower limb skin showed mild edema of the spinous layer, intact basal layer, dilated vascular congestion in the superficial dermis, visible RBC extravasation, and changes of telangiectasia ring purpura were considered. Cranial magnetic resonance imaging (MRI) showed a left choroidal cleft cyst. Genetic test was the CECR1 mutation. The treatment with adalimumab was effective.
CONCLUSIONS: In this case, DADA2 is the seventh case in China, and the CECR1 mutation site (c.254A> T p.N85I,c.851G>T p. G284V) was a compound heterozygous mutation. Mastering the clinical characteristics is helpful for clinicians to diagnose this disease.
METHODS: Analysis of a case diagnosed with DADA2 deficiency of clinical manifestations, laboratory, imaging examination and treatment methods, and discussion through literature analysis.
RESULTS: The child with recurrent fever, limbs nodular erythema, gradually in the limbs. CT of lower limb skin showed mild edema of the spinous layer, intact basal layer, dilated vascular congestion in the superficial dermis, visible RBC extravasation, and changes of telangiectasia ring purpura were considered. Cranial magnetic resonance imaging (MRI) showed a left choroidal cleft cyst. Genetic test was the CECR1 mutation. The treatment with adalimumab was effective.
CONCLUSIONS: In this case, DADA2 is the seventh case in China, and the CECR1 mutation site (c.254A> T p.N85I,c.851G>T p. G284V) was a compound heterozygous mutation. Mastering the clinical characteristics is helpful for clinicians to diagnose this disease.
摘要：
目的：通过一例腺苷脱氨酶2（DADA2）缺乏症，提高国内临床医生对该病的认识，并回顾文献，促进皮肤科医生临床继发原发病变诊断。
方法：分析1例诊断为DADA2缺乏症的临床表现，实验室,影像学检查和治疗方法，并通过文献分析进行讨论。
结果：反复发烧的孩子，四肢结节性红斑,逐渐在四肢。下肢皮肤CT显示棘层轻度水肿，完整的基底层，真皮浅层扩张的血管充血，可见红细胞外渗,并考虑了毛细血管扩张环性紫癜的变化。头颅磁共振成像（MRI）显示左侧脉络膜裂隙囊肿。遗传测试是CECR1突变。阿达木单抗治疗有效。
结论：在这种情况下，DADA2是中国的第七个案例，和CECR1突变位点(c.254A>Tp.N85I，c.851G>Tp.G284V)是复合杂合突变。掌握本病的临床特点有助于临床医师对本病的诊断。
方法：分析1例诊断为DADA2缺乏症的临床表现，实验室,影像学检查和治疗方法，并通过文献分析进行讨论。
结果：反复发烧的孩子，四肢结节性红斑,逐渐在四肢。下肢皮肤CT显示棘层轻度水肿，完整的基底层，真皮浅层扩张的血管充血，可见红细胞外渗,并考虑了毛细血管扩张环性紫癜的变化。头颅磁共振成像（MRI）显示左侧脉络膜裂隙囊肿。遗传测试是CECR1突变。阿达木单抗治疗有效。
结论：在这种情况下，DADA2是中国的第七个案例，和CECR1突变位点(c.254A>Tp.N85I，c.851G>Tp.G284V)是复合杂合突变。掌握本病的临床特点有助于临床医师对本病的诊断。
