Article
Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption.
Clinical immunology (Orlando, Fla.) - 1 Jul 2014
Kishimoto Kenji, Kobayashi Ryoji, Sano Hirozumi, Suzuki Daisuke, Maruoka Hayato, Yasuda Kazue, Chida Natsuko, Yamada Masafumi, Kobayashi Kunihiko
Abstract excerpt
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder. Severe folate deficiency in HFM can result in immunodeficiency. We describe a female infant with HFM who acquired severe Pneumocystis pneumonia. The objective of the present study was to elucidate her immunological phenotype and to examine the time course of immune recovery following parenteral folate therapy. The patient demonstrated a...
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