Neves João F, Martins Catarina, Cordeiro Ana I, Neves Conceição, Plagnol Vicent, Curtis James, Fabre Monique, Bibi Shahnaz, Borrego Luis M, Moshous Despina, Nejentsev Sergey, Gilmour Kimberly
Primary Immunodeficiencies Unit.
CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisboa, Portugal.
J Pediatr Hematol Oncol. 2019 May;41(4):328-333. doi: 10.1097/MPH.0000000000001232.
X-linked severe combined immunodeficiency disease (SCID) is caused by mutations in the interleukin (IL)-2 receptor γ (IL2RG) gene and patients usually present with a TBNK SCID phenotype. Nevertheless, a minority of these patients present with a TBNK phenotype, similar to the IL-7R-deficient patients. We report a patient with a novel missense p.Glu297Gly mutation in the IL2RG gene presenting with a leaky TBNK SCID with delayed onset, moderate susceptibility to infections, and nodular regenerative hyperplasia. He presents with preserved STAT5 tyrosine phosphorylation in response to IL-15 stimulation but not in response to IL-2 and IL-7, resulting in the NK phenotype.
X连锁重症联合免疫缺陷病（SCID）由白细胞介素（IL）-2受体γ（IL2RG）基因突变引起，患者通常表现为TBNK SCID表型。然而，这些患者中有少数表现出TBNK表型，类似于IL-7R缺陷患者。我们报告了一名患者，其IL2RG基因存在新的错义p.Glu297Gly突变，表现为迟发性、对感染中度易感性和结节性再生性增生的渗漏性TBNK SCID。他在受到IL-15刺激时STAT5酪氨酸磷酸化得以保留，但对IL-2和IL-7刺激无反应，从而导致NK表型。
