title: Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.
abstract: Mutations in SLC46A1 result in a defect of the proton coupled folate transporter (PCFT) and are the basis of hereditary folate malabsorption (HFM). Patients with HFM frequently present with neurodevelopmental delay and megaloblastic anemia. Some cases may be complicated by additional lymphopenia and immunodeficiency. We report a patient with a new homozygous mutation in the SLC46A1 gene. The boy presented with early-onset pancytopenia and secondary immunodeficiency. We provide clinical and molecular observations that extend the phenotypic description of HFM and highlight diagnostic as well as therapeutic pitfalls in this rare condition.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany.
authors.forename: Miriam
authors.initials: M
authors.lastname: Erlacher
authors.forename: Sarah Catharina
authors.initials: SC
authors.lastname: Grünert
authors.forename: Annamaria
authors.initials: A
authors.lastname: Cseh
authors.forename: Robert
authors.initials: R
authors.lastname: Steinfeld
authors.forename: Ulrich
authors.initials: U
authors.lastname: Salzer
authors.forename: Ekkehart
authors.initials: E
authors.lastname: Lausch
authors.forename: Ulrike
authors.initials: U
authors.lastname: Nosswitz
authors.forename: Gregor
authors.initials: G
authors.lastname: Dückers
authors.forename: Tim
authors.initials: T
authors.lastname: Niehues
authors.forename: Stephan
authors.initials: S
authors.lastname: Ehl
authors.forename: Charlotte Marie
authors.initials: CM
authors.lastname: Niemeyer
authors.forename: Carsten
authors.initials: C
authors.lastname: Speckmann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005494:Folic Acid Deficiency / Q000150:complications*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000209:etiology*; D008286:Malabsorption Syndromes / Q000150:complications*; D008297:Male; D010198:Pancytopenia / Q000209:etiology*
keywords: bone marrow failure; congenital (not HIV); hematology; immunodeficiency; immunology; infections in imunocompromised host non-malignant