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Autosomal Recessive COPZ1 Mutations Cause Isolated Severe Neutropenia or Complex Syndrome with Severe Neutropenia

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ElGamacy,  M       
Department Protein Evolution, Max Planck Institute for Biology Tübingen, Max Planck Society;

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Hernandez Alvarez,  B       
Department Protein Evolution, Max Planck Institute for Biology Tübingen, Max Planck Society;
Conservation of Protein Structure and Function Group, Department Protein Evolution, Max Planck Institute for Biology Tübingen, Max Planck Society;

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Citation

Borbaran Bravo, N., Deordieva, E., Doll, L., ElGamacy, M., Dannenmann, B., Azevedo, J., et al. (2024). Autosomal Recessive COPZ1 Mutations Cause Isolated Severe Neutropenia or Complex Syndrome with Severe Neutropenia. Poster presented at 66th ASH Annual Meeting, San Diego, CA, USA.


Cite as: https://hdl.handle.net/21.11116/0000-0010-4AE3-B
Abstract
We have identified new autosomal recessive mutations in the COPZ1 gene in three severe congenital neutropenia (CN) patients from two unrelated families. In one family, two siblings with a stop-codon COPZ1 mutation (NP_057141:p.Gln141Ter) suffered from CN, lymphopenia, anemia, thrombocytopenia, and syndromic organ involvement, including hepatosplenomegaly, atypical autism with mental retardation, varying degrees of bone defects, and dermatitis. An unrelated patient with a missense COPZ1 mutation (NP_057141:p.Gly132Arg) exhibited isolated CN and chilblains.