Varicella and varicella immunity in patients with lysinuric protein intolerance

Abstract

Two patients with lysinuric protein intolerance (LPI) had near-fatal generalized varicella infection with severe interstitial pneumonitis, hepatitis, decreased platelet count, bleeding and hypoalbuminaemia. Active haemolysis resulted in anaemia and massive haemoglobinuria. Serum lactate dehydrogenase activity and ferritin concentration, which in patients with LPI in normal circumstances exceed the upper reference values 3-folds to 10-fold, increased to > 10,000 U/L and > 10,000 micrograms/L, respectively. The patients were treated with fresh frozen plasma, red-cell transfusions and intravenous acyclovir for 14 days, and recovered clinically in a month. Retrospectively, 3 of the 32 other known Finnish patients with LPI had had varicella infection that had been more severe than that in the other children in the family or in subjects in the neighbourhood and had led to hospital admission. Varicella antibodies were measured in 24 patients; 5 had no antibodies and 5 had very low antibody titres. Primary vaccination of three patients with living varicella vaccine increased antibody titres measurably in one patient. We suggest that patients with LPI who have no varicella zoster antibodies should be treated with acyclovir if exposed to varicella and should be (re)vaccinated against chickenpox.

Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature

“…Finally, immunodeficiency has been observed in patients with LPI [6], [7], [8]. The older sibling presented with a widespread varicella rash, which was resolving at the time of exam at our hospital.…”

“…The older sibling presented with a widespread varicella rash, which was resolving at the time of exam at our hospital. Patients with LPI are at an increased risk for generalized varicella infections, and these infections resemble varicella in children who have been treated for acute leukemia or who are immunocompromised [8]. Additionally, varicella infection in this population may induce or aggravate pulmonary changes leading to pulmonary alveolar proteinosis [8].…”

“…Patients with LPI are at an increased risk for generalized varicella infections, and these infections resemble varicella in children who have been treated for acute leukemia or who are immunocompromised [8]. Additionally, varicella infection in this population may induce or aggravate pulmonary changes leading to pulmonary alveolar proteinosis [8]. Patients with LPI respond poorly to the varicella vaccine and have increased susceptibility to infections, suggesting humoral and T cell impairment.…”

“…Other symptoms may include hepatomegaly, growth retardation, mental retardation, osteoporosis, and muscle weakness [5]. Some patients present with symptoms suggestive of immune system dysfunction including glomerulonephritis, pulmonary alveolar proteinosis (PAP), increased susceptibility to hemophagocytic lymphohistiocytosis and severe varicella infections [6], [7], [8]. Impaired intestinal and renal absorption of the cationic amino acids lysine, arginine and ornithine result in low plasma levels and increased urinary excretion of CAAs.…”

Amino Acid Transport Defects in Human Inherited Metabolic Disorders

“…Some patients may present with mild normochromic or hypochromic anemia, leukopenia, and thrombocytopenia. Aggravated viral infections, such as severe varicella infection, are frequent in LPI [142]. The poor growth and skeletal and immunological symptoms of LPI may be partially explained by the reduced availability of lysine, which is an essential amino acid.…”