Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7

Matsukawa, Yukihiro; Sakamoto, Kenichi; Ikeda, Yuhachi; Taga, Takashi; Kosaki, Kenjiro; Maruo, Yoshihiro

doi:10.1007/s12185-022-03375-z

Cited by 5 publications

(3 citation statements)

References 18 publications

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“…In fact, LPI has been reported in several cases of HLH complications. [45][46][47][48][49][50][51][52][53] Furthermore, some patients developed HLH prior to being diagnosed with LPI (Table 3). Notably, most patients with HLH have reversible laboratory abnormalities that normalize with remission, whereas LPI-associated HLH is chronic and intermittent.…”

Section: Lysinuric Protein Intolerancementioning

confidence: 99%

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Rare diseases presenting with hemophagocytic lymphohistiocytosis

Kanegane

Noguchi

Yamada

et al. 2023

Pediatrics International

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Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory disorder characterized by hypercytokinemia caused by excessive activation of cytotoxic T cells and macrophages. HLH is caused by a variety of factors and is classified into primary and secondary HLH. Familial HLH (FHL) types 1–5, X‐linked lymphoproliferative syndrome types 1 and 2, and FHL syndrome with hypopigmentation are all examples of primary HLH. Secondary HLH, on the other hand, is linked to infections, malignant tumors, autoimmune diseases, and other diseases. The causes of HLH vary, and finding the underlying disease is critical for diagnosis and treatment. The majority of HLH is caused by the aforementioned conditions; however, approximately 10% of cases are caused by rare diseases such as inborn errors of immunity (IEI) and inborn errors of metabolism (IEM). Novel IEI, such as RhoG, MAP kinase activating death domain, TIM3, and ZNFX1 deficiencies, have recently been identified as causes of HLH. IEM patients are rarely associated with HLH. Surprisingly, children with lysinuric protein intolerance and lysosomal acid lipase deficiency (Wolman disease) frequently develop HLH. This review focuses on the most recent knowledge of HLH caused by rare diseases such as IEI and IEM.

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Section: Lysinuric Protein Intolerancementioning

confidence: 99%

“…These findings may be related to HLH, implying that LPI may have an HLH‐like condition. In fact, LPI has been reported in several cases of HLH complications 45–53 . Furthermore, some patients developed HLH prior to being diagnosed with LPI (Table 3).…”

Section: Introductionmentioning

confidence: 99%

Rare diseases presenting with hemophagocytic lymphohistiocytosis

Kanegane

Noguchi

Yamada

et al. 2023

Pediatrics International

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“…[3] The occurrence of HLH is a severe complication, difficult to treat and significantly increasing the risk of death. [4] [5] Conflict of interest: none declared.…”

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confidence: 99%

Pulmonary proteinosis and secondary hemophagocytic syndrome in a patient with lysinuric protein intolerance

Sokołowski¹,

Rząd²,

Lisicki³

et al. 2023

Polish Archives of Internal Medicine

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Lysinuric protein intolerance (LPI) is a rare, autosomal recessively inherited metabolic disease, caused by a mutation within the gene SCL7A7 on 14q11. The disease is characterized by intolerance of protein-rich foods, with secondary disruption of the urea cycle. The highest incidence of LPI has been observed in Finland (1/60,000 births), Italy, and Japan. There are no available epidemiological data for Poland.

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