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Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2).
Sogkas, Georgios Dubrowinskaja, Natalia Bergmann, Anke K Lentes, Jana Ripperger, Tim Fedchenko, Mykola Ernst, Diana Jablonka, Alexandra Geffers, Robert Baumann, Ulrich
Sogkas, Georgios
Dubrowinskaja, Natalia
Bergmann, Anke K
Lentes, Jana
Ripperger, Tim
Fedchenko, Mykola
Ernst, Diana
Jablonka, Alexandra
Geffers, Robert
Baumann, Ulrich
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2019-04-04
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Abstract
Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous ZBTB24 gene mutation (c.1222 T>G, p. (Cys408Gly)). Immune deficiency in these patients ranged from late-onset combined immunodeficiency (CID) with severe respiratory tract infections and recurrent shingles to asymptomatic selective antibody deficiency. Evident clinical heterogeneity manifested despite a common genetic background, suggesting the pathogenic relevance of epigenetic modification. Immunological follow-up reveals a previously unidentified gradual depletion of B and CD4+ T cells in all three presented patients with transition of a common variable immunodeficiency (CVID)-like disease to late-onset-CID in one of them. Considering all previously published cases with ICF2, we identify inadequate antibody responses to vaccines and reduction in CD27+ memory B cells as prevalent immunological traits. High mortality among ICF2 patients (20%) together with the progressive course of immunodeficiency suggest that hematopoietic stem cell transplantation (HSCT) should be considered as a treatment option in due time.
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Diseases. 2019 Apr 4;7(2). pii: diseases7020034. doi: 10.3390/diseases7020034
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en
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2079-9721
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Attribution-NonCommercial-ShareAlike 4.0 International