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Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption
Author(s) -
Erlacher Miriam,
Grünert Sarah Catharina,
Cseh Annamaria,
Steinfeld Robert,
Salzer Ulrich,
Lausch Ekkehart,
Nosswitz Ulrike,
Dückers Gregor,
Niehues Tim,
Ehl Stephan,
Niemeyer Charlotte Marie,
Speckmann Carsten
Publication year - 2015
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25364
Subject(s) - pancytopenia , medicine , malabsorption , malabsorption syndromes , pediatrics , immunodeficiency , gastroenterology , immunology , bone marrow , immune system
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. Pediatr Blood cancer © 2014 Wiley‐Liss,Inc.