Case presentation
Our patient is currently a 9-year-old male from a non-consanguineous Caribbean family, born after an uncomplicated pregnancy at 38 weeks gestational age by emergency Cesarean section due to meconium. The neonatal period was remarkable for neonatal alloimmune thrombocytopenia, treated with intravenous immunoglobulins (IVIG). He had an episode of thrush around the age of 3 months which was treated with oral Nystatin. There were no other infectious or immune concerns in the first year of life.
At the age of 3 years, the patient presented to our Immunology Service with a history of recurrent infections, including affecting the recurrent respiratory tract as well as 3 major bacterial infections: Streptococcal bacteremia at age 2 years, group A Streptococcus pharyngitis, and periorbital cellulitis at around age 3 years, all requiring prolonged admission and intravenous antibiotic therapy. Additionally, he had high myopia, tortuous optic nerve identified on MRI, hypotonia, and motor developmental delay.
His immune evaluation revealed low CD3+ T cells, including both CD4+ and CD8+, and normal numbers of CD19+ and NK cells (
Table 1). Other immune parameters were normal, including lymphocyte responses to phytohemagglutinin, as well as albumin and immunoglobulin levels, reactive specific antibody titers, neutrophil oxidative burst index, CH50, chromosomal microarray and chromosomal breakage assay.
At age 4 years he was admitted for severe pulmonary vein stenosis, leading to pulmonary hypertension, and subsequently underwent a double lung transplant. In his pre-transplant workup, he was noted to have a positive Strongyloides serology, which was treated.
Post-transplant, he continued to suffer from multiple infections, including recurrent pneumonia (Staphylococcus, Pseudomonas, Hemophilus, Entero, Rhinovirus, MAC and Coronavirus), some requiring intravenous and in-hospital management. He had multiple hospital admissions due to hematemesis and bloody stools, with a gastrointestinal scope only showing mild gastritis and mildly prominent vessels in the esophagus and rectum. Further, he was unable to clear Norovirus from his GI tract.
Additionally, he developed immune-mediated anemia and neutropenia while he was on Tacrolimus and MMF. A prior bone marrow aspirate showed adequate granulopoiesis, as it was considered autoimmune, ultimately the cytopenia was managed with intravenous immunoglobulin and GCSF with a good response. A bone marrow aspirate and biopsy demonstrated normal granulopoiesis. In terms of other immune-mediated conditions, he also developed alopecia areata. He developed chronic kidney injury, which is believed to have resulted from immunosuppressive medications post-transplant.