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Clin Immunol. 2014 Jul;153(1):17-22. doi: 10.1016/j.clim.2014.03.014. Epub 2014 Mar 29.

Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption.

Author information

1
Department of Pediatrics, Sapporo Hokuyu Hospital, Higashi-Sapporo 6-6, Shiroishi-ku, Sapporo 003-0006, Japan. Electronic address: ken@yacht.ocn.ne.jp.
2
Department of Pediatrics, Sapporo Hokuyu Hospital, Higashi-Sapporo 6-6, Shiroishi-ku, Sapporo 003-0006, Japan.
3
Department of Clinical Laboratory, Kobe City Medical Center General Hospital, 2-1-1 Minatojima-Minamimachi, Chuo-ku, Kobe 650-0047, Japan.
4
Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15, West 7, Kita-ku, Sapporo 060-8638, Japan.

Abstract

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 combined immunodeficiency with an impaired T cell proliferation response, pan-hypogammaglobulinemia, and an imbalanced pro-inflammatory cytokine profile. She had normal white blood cell count, normal lymphocyte subsets, and normal complement levels. Two novel mutations were identified within the SLC46A1 gene to produce a compound heterozygote. We confirmed full recovery of her immunological and neurophysiological status with parenteral folate replacement. The time course of recovery of her immunological profile varied widely, however. HFM should be recognized as a unique form of immunodeficiency.

KEYWORDS:

Cytokine profile; Hereditary folate malabsorption; Novel mutations; Pneumocystis pneumonia; Severe combined immunodeficiency

PMID:
24691418
DOI:
10.1016/j.clim.2014.03.014
[Indexed for MEDLINE]

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