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+The patient is an 18-year-old Han female admitted to Peking Union Medical College Hospital due to adrenal crisis triggered by pneumonia.
+She has developed recurrent respiratory infections since age 5, and failed to respond to multiple hepatitis B virus (HBV) vaccinations.
+Reduced serum cortisol and ACTH levels were discovered at 16 when glucocorticoid replacement was initiated.
+In addition, hair loss started from age 4, and absence of pubic and axillary hair was noticed after development of regular menstruation.
+Her history includes nephrotic syndrome, which was confirmed to be minimal change nephropathy by renal biopsy.
+Physical examination at admission revealed alopecia totalis, oral candidiasis, hypohidrosis, and trachyonychia.
+Facial or dental abnormalities was not noted.
+She is the only child in her family.
+Symptom and signs of the above disorders were not identified among her nonconsanguineous parents.
+Initial immunologic tests revealed remarkable panhypogammaglobulinemia and reduced cell counts of B cells, T cells, and natural killer (NK) cells (Table ​(Table1).1).
+CD4/CD8 ratio, as well as expression levels of various T-cell activation markers were in normal range, except increased proportion of CD8+/HLA-DR+ subset.
+Antinuclear antibodies (ANA) and antineutrophil cytoplasmic antibodies (ANCA) were negative.
+When regular hydrocortisone replacement was suspended, her 8:00 am serum cortisol was measured at 0.93 μg/dL, with ACTH <5.00 pg/mL.
+Serum levels of other anterior pituitary hormones, as well as serum and urine osmolality were within reference range.
+Both antiperoxidase antibody and antithyroglobulin antibody were negative.
+She had positive antiprotein tyrosine phosphatase antibody, with fasting blood glucose at 5.9 mmol/L.
+Magnetic resonance imaging with contrast suggested a normal pituitary.
+She was diagnosed with CVID, isolated ACTH deficiency, and ectodermal dysplasia.
+Symptoms of fever, cough, and vomiting cleared with antibiotics and stress-dose hydrocortisone treatment.
+Intravenous immunoglobulin (IVIG) therapy was suggested but denied by the parents.
+At follow-up 1 year after her discharge, she reported no infection events during the previous year as she stayed at home and avoided outdoor activities.
+Her glucocorticoid replacement was withdrawn 4 months after discharge, and she has only received traditional Chinese medicine ever since.
+Lymphocyte subsets test done at the follow-up documented increased levels of B cells and T cells, while NK cell count remained below normal limit.
+To assess her NK-cell activity, a flow cytometric procedure was done following previously described method.[10,11] Effector to target cell ratio was set at 10:1.
+Less apoptosis of target cell line (12.43%, reference range 15.11–26.91%) was observed when cocultured with patient's peripheral blood mononuclear cells (PBMC), indicating a deficient NK-cell cytotoxicity.