27749582 Visualization

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