🧬Novel mutation (c.441dup) in exon 4 of SPI1 gene. ▶️ PU.1 mutated agammaglobulinemia presenting with severe progressive neurocognitive impairment. ▶️ Possible role of microglial dysfunction @FrontImmunol https://t.co/m4XmoMnsi
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RT @Primary_Immune: An🧬Inborn Error of Immunity🧬first described in 2021 -> PU.1-mutated agammaglobulinemia - novel mutation - novel, le…
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RT @Primary_Immune: An🧬Inborn Error of Immunity🧬first described in 2021 -> PU.1-mutated agammaglobulinemia - novel mutation - novel, le…
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RT @Primary_Immune: An🧬Inborn Error of Immunity🧬first described in 2021 -> PU.1-mutated agammaglobulinemia - novel mutation - novel, le…