A 4-month-old male patient with a history of allergy to cow's milk protein (CMA) and fungal scalp dermatitis.
Consult for cough and fever
Extensive multifocal pneumonia was diagnosed and she was hospitalized in the ward.
The patient developed acute respiratory failure due to mechanical ventilation (MV) at 72 h.
IgM studies for cytomegalovirus (CMV), Mycoplasma and cystis jirovecii are negative.
The transfer to the ICU was decided.
His tests showed leukocytosis of 49,000/mm3, lymphopenia of 1,000/mm3 and low C3, C4 and IgG complements.
In lymphocyte subpopulations highlights the absence of T lymphocytes (TL) and absolute lymphopenia.
PCR for P. jirovecii in bronchoalveolar lavage was positive.
The patient had severe ARDS and required 10 days of MV.
Chest computerized axial tomography showed multiple foci of alveolar filling, some in ground glass.
Severe combined immunodeficiency was confirmed with the absence of interleukin 2 receptor gamma (IL 2 RG), corresponding to a severe X-linked form (X-SCID).
Gamma gammaglobulin (GGEV) is started in replacement doses 3 weeks, antifungal prophylaxis and P. jirovecii, and periodic surveillance of E CMVb virus and adenovirus B, respectively.
One month later, the patient was treated by dissemination of the BCG vaccine.
The study for allogeneic bone marrow transplantation did not report compatibility.
He was admitted to the Children’s Hospital Boston gene therapy protocol, which was performed after BCG dissemination treatment.
The subsequent evolution is favorable.
Periodic lymphocyte control results in low normal ranges.
Requires GGEV monthly.
Without infectious complications, she is currently 4 years old.
