Case Report
A 7-year old girl was admitted to our center with the complaint of recurrent infections. She had suffered from recurrent oral aphtha, diarrhea, pneumonia, and respiratory distress since infancy.  At the age of one she presented with CMC and fluconazol prophylaxis was started. At the age of 5 she received empiric treatment of tuberculosis. Tests for tuberculosis were negative. She was hospitalized with the diagnosis of pneumonia at the age of 6 and treated. Bronchiectasis was detected by chest computed tomography (CT). She had persistant lymphopenia with normal immunoglobulin levels and lymphocyte subsets with low memory and switch memory B cell numbers. At the age of 7, she was admitted to pediatric intensive care unit due to candida pneumoniae. In immunological evaluation, immunoglobulin levels and IgG subgroups were normal, and low Natural Killer (NK) cell count was detected. She was diagnosed as combined immunodeficiency and antibiotic prophylaxis and monthy intravenoz immunoglobulin (IVIG) treatment were started. In the follow-up, infection recurrency reduced. At the age of 9, she admitted with the complaint of respiratory stress. On her physical examination, body weight 13 kg (<3p) (z-score: -4.18), length 110 cm (<3p) (z-score: -2.81), body mass index: 11.2 (z-score: -3.71), weight by age 59% of the standard. On labortatory tests: Hb 7.4 gr/dl , WBC 9800 mm3, ANS 9100 mm3, thrombocyte 401.000/mm3. CT of thorax had bilateral hilar lymphadenopathies and diffuse thickening with esophagitis in the distal end of the esophagus. On physical examination there was red brown, thick scaled plaques on the neck suggesting Candidasis. Antibacterial and antifungal therapy were started due to respiratory system and skin findings. Next generation sequencing for primary immunodeficiency (PID) was performed and a homozygous STAT1mutation was found. (N397D gene defect). Despite completing the infection treatment, hypoxia and respiratory stress continued. Interstitial lung diase was considered and methylprednisolone (MPZ) (2mg/kg) was started and respiratory symptomps improved significantly shorthly after oxygen requirement decreased from 10 liters per minute to 2 liters per minute and our patient was discharged. STAT1phosphorilation was studied and then ruxolitinib was started. Now, the patient takes monthy IVIG treatment and antifungal and antibacterial prophylaxis and ruxolitinib. Oxygen requirement continues at 2 liters per minute. Saturation values increased from 70% to 90%. Bone marrow transplantation is planned as a treatment for our patient. Unrelated donor screening has been continued for the patient who has no HLA matched-relative donor.