Aretrospective Study Of Infections And Etiology In Patients With Severe Combined Immunodeficiency

Objective： To analyze infections and etiological characteristics insevere combined immunodeficiency (SCID) patients in China, so as toprovide clues on early diagnosis of infection occurred in this severeimmunodeficiency disease and guide empirical anti-infective therapy.Methods： A total of26infants with severe combinedimmunodeficiency, who were diagnosed in children’s hospital ofChongqing medical university from Jan,2009to Jan,2014, wereretrospectively analyzed. Of these patients, age of onset and confirmeddiagnosis, sex, family history, history of Bacillus Calmette Guerin vaccine(BCG), infection site, symptoms and signs, pathogen type were estimated.Results：The sex ratio of male and female infants were25/1. Themean age at first-time consultancy was3months, ranging from1to8months; the mean age at diagnosis was4months (from2to9months). Themean hospital stays was17(3-244) days. A positive family history withinfant mortality was discovered in15infants. Recurrent fever,pneumonia,diarrhea, oral leukoplakia，skin rash, swollen lymph nodes, skinsoft-tissue infection,were main clinical manifestation in most infant patients. There were7/25infants with injection sites of skin infection whilehad been vaccinated at BCG vaccine. Pathogenic bacterium was culturedin22infants’ Sputum samples, respectively14germ-negative bacilli，3germ-positive cocci and4Candida albicans. Two in six were confirmedwith deep fungal infection. All of those23patients detected humancytomegalovirus antibodies were not proved positive. Eight SCID infantssuffered from mycobacterium tuberculosis infection. Rotavirus antigenwere also measured positive in4stool specimen. Two midstream specimenof urine cultured candida albicans. Of all25chest imaging examination,11had pneumonia complications and10interstitial inflammation change.11cases showed thymic aplasia or absence. Eighteen out of26werediagnosed with hepatomegaly or splenomegaly or hepatosplenomegaly,9cases prompt bottom echo nodules or uneven.Conclusions：Severe combined immunodeficiency is an commonlyidentified primary immunodeficiency syndrome in China. The affectedindividuals usually have a positive family history. Although clinicalmanifestations of SCID lack specificity, Early diagnosis and propermanagement of the multisystem infections are the key to improve the thethe outcome.