Hypogammaglobulinaemia with low natural killer cell numbers:a case report with four year of follow-up / 临床儿科杂志

ABSTRACT

Objective To explore the immune characteristic of a patient with hypogammaglobulinaemia and low natural killer(NK)cell numbers. Methods Case histories were analyzed repeatedly to grasp important characteristics of the disease. A routine blood examination and peripheral blood immunological detection was done. Complete neutrophil function test,lymphocyte proliferation ability and cytokine profile were evaluated. Results A 3-year-old boy was referred to the hospital because of fever and abdominal pain as well as partial intestinal obstruction. Laboratory examination revealed low immunoglobulin,reduced absolute numbers of B and NK cells and deficient B cell function of lower IFN-γ and IL-12 production. The patient also had mesenteric lymphadenopathy and a caecal mass with histology suggestive of ileocecal junctional tuberculosis. The patient was infected with cytomegalovirus(CMV)and fungus,which are not common in simple antibody deficiencies. The patient was followed for four years and during this period the patient had recurrent periodontitis resulting in the loss of one tooth. Conclusions Although the precise mechanism of the defect is unclear,we speculate that the case may cast new light on primary immunodeficiencies predominantly with antibody deficiency.(J Clin Pediatr,2011,29(7)601-608)