We recently encountered several cases of children with recurrent infections and difficult-to-control tuberculosis, which turned out to be suffering from severe primary immunodeficiency disease and deserve the attention of parents and clinicians in general.
Case 1: An 8-year-old girl with recurrent facial and extremity rash, followed by diffuse cornual and patchy shadows in both lungs, was diagnosed with tuberculosis by local pathological examination of the rash, and was treated with repeated anti-tuberculosis therapy for 4 years, but was ineffective. “He was treated with a second-line anti-tuberculosis regimen, but was still ineffective and eventually died. Blood CD19 <1, final suspected diagnosis: primary immunodeficiency disease, blood-borne tuberculosis, cutaneous tuberculosis, deep fungal disease. Guo Xinmei, Department of Internal Tuberculosis, Shandong Chest Hospital
Case 2: 2 years old, male child. Has 1 older sister, 12 years old, in good health. Had 2 older brothers, both died at the age of about 1 year. He was admitted to the hospital with recurrent fever, and local anti-infection treatment was ineffective. He was diagnosed with hematogenous pulmonary tuberculosis and hilar mediastinal lymph node tuberculosis by chest CT examination. He was given anti-tuberculosis treatment, but the results were poor. Finally, the immune function test showed that the CD4 was significantly lower than normal. Currently under maintenance treatment, recurrent and intractable oral ulcers developed secondary to the oral cavity despite aggressive treatment.
Case 3: A 6-year-old boy. He was admitted with recurrent fever, bilateral cervical, axillary, and inguinal lymph nodes enlargement, and chest CT showed right upper patchy shadow and hilar lymph nodes enlargement. T-SPOT-TB was found to be significantly higher than normal, and blood CD19 and CD4 were significantly lower than normal. Final diagnosis: primary immunodeficiency disease, primary pulmonary tuberculosis, lymph node tuberculosis. Currently under treatment.
Primary immunodeficiency disease is a genetically inherited disease, which can lead to various infections due to low immune function after the onset of the disease, and not only the BCG vaccinated children are susceptible to disseminated BCG disease, but also makes tuberculosis difficult to control, shattering the myth that “tuberculosis is a benign disease”. The mortality rate is significantly increased by the difficulty of fighting tuberculosis and the complications of other pathogens (especially fungal).
The diagnosis of the disease requires genetic diagnosis and stem cell transplantation is the only way to cure the disease.