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Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.

Front Pediatr. 2019; 
Sriaroon P, Chang Y, Ujhazi B, Csomos K, Joshi HR, Zhou Q, Close DW, Walter JE,, Kumánovics A,,.
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Biochemicals … type":"entrez-nucleotide","attrs":{"text":"NM_006060","term_id":"1388162053","term_text":" NM_006060"}}NM_006060 (Clone ID {"type":"entrez-protein","attrs":{"text":"OHu28071","term_id":" 1092084539","term_text":"OHU28071"}}OHu28071) was purchased from GenScript Get A Quote

摘要

We report a novel variant in IKZF1 associated with IKAROS haploinsufficiency in a patient with familial immune thrombocytopenia (ITP). IKAROS, encoded by the IKZF1 gene, is a hematopoietic zinc-finger transcription factor that can directly bind to DNA. We show that the identified IKZF1 variant (p.His195Arg) alters a completely conserved histidine residue required for the folding of the third zinc-finger of IKAROS protein, leading to a loss of characteristic immunofluorescence nuclear staining pattern. In our case, genetic testing was essential for the diagnosis of IKAROS haploinsufficiency, of which known presentations include infections, aberrant hematopoiesis, leukemia, and age-related decrease in humoral imm... More

关键词

IKAROS deficiency; IKZF1; ITP; autoimmunity; immune thrombocytopenia; primary immunodeficiency