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

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

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作者：Kenji Kishimoto^a ; ^{ken@yacht.ocn.ne.jp" class="auth_mail} ; Ryoji Kobayashi^a ; Hirozumi Sano^a ; Daisuke Suzuki^a ; Hayato Maruoka^b ; Kazue Yasuda^a ; Natsuko Chida^c ; Masafumi Yamada^c ; Kunihiko Kobayashi^a
关键词：Hereditary folate malabsorption ; Severe combined immunodeficiency ; Cytokine profile ; Pneumocystis pneumonia ; Novel mutations
刊名：Clinical Immunology
出版年：July 2014
年：2014
卷：153
期：1
页码：17-22
全文大小：398 K

文摘

•: Novel compound heterozygous SLC46A1 mutations were found in a patient with HFM.
•: A severe combined immunodeficiency with a T + B + NK + SCID-like phenotype was revealed.
•: Imbalanced serum cytokine profiles and high levels of CXCR3 ligands were disclosed.
•: Full recovery of the immune system after folate replacement was confirmed.
•: The time course of recovery varied widely among the cell types and functions.

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