Clinical features and genetic characteristics of primary immunodeficiency disease with skin symptoms in 15 children / 临床儿科杂志

ABSTRACT

Objective To explore the clinical features and genetic characteristics of primary immunodeficiency disease (PIDs) with skin symptoms in children. Methods The clinical data of PIDs with skin symptoms in 15 children from January 2014 to March 2017 were analyzed retrospectively. Results The median age at onset in 15 children was 4 months (neonatal period to 11 years 8 months). All of them showed obvious skin symptoms, including eczema or chilblain rash, pustular psoriasis, skin infections, subcutaneous hemorrhage or skin ecchymosis, ichthyosiform erythroderma, progeroid appearance, or other cutaneous vasculitis. The accompanying manifeslations included recurrent infections, auto inflammation, autoimmunity, growth retardation, or lymphoid proliferation, and impairment of brain, lung, kidney and other important organs. Eosinophil counts were increased in 5 children, IgE levels were elevated in 5 children, and 4 children were abnormal in both indicators. Gene detection showed WAS, RNASEH2C, NLRP12, IL36RN, NRAS, PIK3CD, STAT1, FOXP3, STAT3, DOCK8, TYK2, SPINK5, NBAS or ITGB2 gene mutations, respectively. Two children died from multiple organ dysfunction syndrome, 1 child was lost for follow up, the remaining 12 children survived and were under the individualized treatment. Conclusions A variety of PIDs can have skin symptoms. When accompanied by recurrent infections, auto inflammation, autoimmune, growth retardation, or lymph proliferation, PIDs should be considered, and gene detection is helpful for the diagnosis.