She was the first child of young, non-consanguineous parents, born from the first pregnancy which was terminated in the 39th week of gestation using Cesarian section surgery because of condylomata acuminata due to human papilloma virus (HPV) infection in the mother. In early infancy, mild eczema on the child’s face, in the perioral and periorbital areas was observed. By the end of the first year of life the child had thrived and had not suffered from any severe infections. She received live BCG vaccine, tetanus and diphtheria toxoids, inactivated pertussis, inactivated poliomyelitis, recombinant hepatitis B and conjugated pneumococcal as well as Haemophilus influenzae B vaccines without adverse reactions after the immunizations.
On admission the child demonstrated paroxysmal non-productive cough and clinical signs of respiratory insufficiency along with injected oral pharyngeal mucosa and dry erythematous lips. Fine papular skin eruption affecting the face was observed. Neither peripheral lymph nodes nor internal organs of the abdominal cavity were palpable. During hospitalization, lymphopenia, anemia, and thrombocytosis (the peak platelet count was 778 × 109/l) as well as increased levels of inflammatory markers and coagulopathy were found in laboratory tests. Dilation of the right coronary artery was revealed in echocardiography, giving rise to the suspicion of Kawasaki disease and the instituting of treatment with aspirin and immunoglobulins. Despite intensive pharmacotherapy with antibiotics, trimethoprime/sulfamethoxazole, acyclovir and antifungal agents, rapid deterioration of the child’s clinical state and the exacerbation of respiratory insufficiency accompanied by progression in radiological features of the respiratory distress syndrome (RDS) occured. On a chest X-ray, massive alveolar and interstitial infiltrations with bilaterally decreased aeration of the lung fields and blurred borders of the diaphragm and the heart shape (as shown on Figure 1) were discernible. Differential diagnostics that included examinations of the tracheal aspirate samples aimed at infectious agents were carried out. Infections with viruses – RSV A and B, parainfluenza viruses 1,2, and 3, influenza A including H1N1 subtype and B, adenoviruses, CMV, EBV, MPV, rhinovirus, human immunodeficiency virus (HIV), with bacteria, such as Streptococcus pneumoniae, Haemophilus influenzae, Legionella, Bordetella pertussis, Mycoplasma pneumoniae, Chlamydophila pneumoniae, as well as with fungi –Candida spp. and P. jiroveci were excluded based on negative PCR examinations, whereas the human coronavirus HKU1 – RNA proved positive. Peripheral blood lymphocyte flow cytometric immunophenotyping revealed a total lack of expression of antigens characteristic for CD4 and CD8 T-cell subsets as well as NK cells along with the presence of functionally immature transitional and naïve B cells. This SCID phenotype was subsequently confirmed by bone marrow flow cytometric evaluation. However, the presence of few NK cells was revealed, indicating for T-B + NK + SCID.