Gunderman Lauren, Brown Jeffrey, Chaudhury Sonali, O'Gorman Maurice, Fuleihan Ramsay, Khanolkar Aaruni, Ahmed Aisha
Division of Allergy and Immunology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Biomedicines. 2023 Mar 21;11(3):959. doi: 10.3390/biomedicines11030959.
We present a unique and unusual case of a male patient diagnosed with two coexisting and typically unassociated X-linked conditions: he was initially diagnosed with X-linked agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic granulomatous disease (XCGD) and an as of yet unpublished hypomorphic gp91phox variant in the gene. The latter was tested after the finding of granulomatous gingivitis. Hematopoietic stem cell transplant (HSCT) was performed due to severe colitis and nodular regenerative hyperplasia (NRH) of the liver. Following transplant, complete donor engraftment was observed with the restoration of a normal oxidative burst and full restoration of normal levels of circulating, mature CD19+ B cells. This case is singular in that it does not involve a contiguous gene syndrome in which deleted genes are in close proximity to either and which has been previously reported. To our knowledge, this is the first reported case of XLA and XCGD co-existing in a single patient and of having both inborn errors of immunity successfully treated by HSCT.
我们报告了一例独特且不寻常的男性患者病例，该患者被诊断患有两种通常不相关的共存X连锁疾病：他最初被诊断为X连锁无丙种球蛋白血症（XLA），随后又被诊断为X连锁慢性肉芽肿病（XCGD），并且在该基因中发现了一种尚未发表的低表达gp91phox变体。后者是在发现肉芽肿性牙龈炎后进行检测的。由于严重结肠炎和肝脏结节性再生性增生（NRH），患者接受了造血干细胞移植（HSCT）。移植后，观察到完全的供体植入，氧化爆发恢复正常，循环成熟CD19+B细胞水平完全恢复正常。该病例的独特之处在于，它不涉及先前已报道的相邻基因综合征，即缺失的基因与和紧密相邻。据我们所知，这是首例报道的XLA和XCGD共存于单一患者且两种先天性免疫缺陷均通过HSCT成功治疗的病例。
