Author:
Li Hongwei,Zhang Yawen,Zhang Biyun,Chen Dehui
Abstract
Abstract
Background
Analyzed the clinical features and treatment process of the patient suffering from immunodeficiency with systemic lupus erythematosus(SLE)-like syndrome in a novel mutation of PRKDC.
Case presentation
The patient had multiple positive auto-antibodies, chest CT and bronchoscopy showed Diffuse alveolar hemorrhage(DAH), and psychiatric symptoms showed brain atrophy by magnetic resonance imaging (MRI). Whole exon sequencing showed that novel complex heterozygous mutations of PRKDC gene (C. 1777 − 710_1777-709INSA (IVS16/IC16), C.1337T > A(p.Phe446Tyr). The mature B cell (CD19 + CD27 + CD38 dimIgD IgM-) were absent. The treatment of high-dose methylprednisolone (MP) and cyclophosphamide(CTX) can quickly relieve the symptoms of the patient.
Conclusion
We described the case of an infant immunodeficiency with SLE like-syndrome, which may cause by PRKDC mutation, treated successfully with high-dose MP and CTX.
Funder
Basic and applied basic research foundation of guangdong province enterprise mutual funds
Zhongnanshan Medical Foundation of Guangdong Province
Publisher
Springer Science and Business Media LLC
Subject
Immunology and Allergy,Rheumatology,Pediatrics, Perinatology and Child Health