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.