Mycobacterial Infection In Patients With Primary Immunodeficiency Diseases: A Clinical Analysis Of45Cases

Objective: Analyze the clinical data of PID patients withmycobacterial infection in Children’s Hospital of Chongqing MedicalUniversity, in order to provide experience for the early diagnosis of PIDpatients with mycobacterial infection.Methods: The clinical data of45PID patients with mycobacterialinfection seen from January2003to December2012in our hospital wereanalyzed retrospectively. All the PID patients were diagnosed by genemutation analysis.Results:1.The ratio of male to female was14:1. The age of onset of allthe PID patients were less than18months, the median age was2months.Patients were diagnosed between1and160months, the mean age atdiagnosis was8months. Recurrent respiratory infection (44/45) and chronicdiarrhea (30/45) were the common symptoms in all the patients, and thenmalnutrition (20/45) were also general in our study. There were51.11%(23/51) cases with positive family history. In the45cases,17cases weresevere combined immunodeficiency disease (SCID),16cases were chronic granulomatous disease (CGD),6cases were X-linked the hyper-IgMsyndrome(XHIM),2cases were hyper IgE syndromes(HIES),2cases wereX-linked agammaglobulinemia(XLA),1case was autosomal recessive(AR)agammaglobulinemia and1case was IL12RB1mutation.2.BCG disease was diagnosed in22children, including12cases wereSCID,4cases were XHIM,3cases were CGD,2cases were HIES and1case was IL12RB1mutation. Local disease, reginal disease anddisseminated disease were common. The mortality rate was52.63%(10/19)for PID patients with BCG disease.3. Tuberculosis was diagnosed in18cases:10cases had CGD,4caseshad SCID,3cases had humoral immunodeficiency and1case had XHIM.Pulmonary tuberculosis was the most common. The mortality rate was58.82%(10/17) for PID patients with Tuberculosis.4.Both BCG disease and Tuberculosis were diagnosed in5cases:3cases had CGD,1case had SCID and1case had XHIM. The mortality ratewas60%(3/5).5.There were7cases of disseminated BCG disease. Three cases of themwere CGD,2were SCID,1was XHIM and1was IL12RB1mutation.Disseminated BCG disease often involve the systemic lymph nodes andlungs.The mortality rate was50%(3/6). IFN-γ and HSCT partially improvedthe prognosis of PID patients with Disseminated BCG disease.Conclusion: In our hospital, there are a number of PIDs prone to mycobacterial infection, including SCID, CGD, XHIM, HIES and IL12RB1mutation.The common mycobacterial infections were local BCG disease,reginal BCG disease, disseminated BCG disease and pulmonarytuberculosis. The prognosis of PID patients with mycobacterial infectionwas poor. If a newborn baby had a positive family history of PID, he shouldavoid vaccination BCG vaccine. Patients with BCG disease wererecommended to take immune function screening test.We need to payattention to screening for PID in patients with Tuberculosis.