Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype

Stockdale, Claire; Rice, Laura; Carter, Clive; Berry, Ian; Poulter, James A.; O’Riordan, Sean; Pollard, Sally; Anwar, Rashida; Tooze, Reuben; Savic, Sinisa

doi:10.1007/s10875-021-01006-6

Cited by 4 publications

(9 citation statements)

References 5 publications

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“…A total of 459 people with PI and COVID-19 are described from 54 of the 68 studies [ 12 , 13 , 16 , [18] , [19] , [20] , [21] , 24 , 26 , 27 , [29] , [30] , [31] , [32] , [33] , [34] , [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] , [43] , [44] , [45] , [46] , [47] , [48] , [49] , [50] , [51] , [52] , [53] , [54] , [55] , [56] , [57] , [58] , [59] , [60] , [61] , [62] , [63] , [64] , [65] , [66] , [67] , [68] , [69] , [70] , [71] ] (Table 2). These cases came from case reports as well as cohort studies with information available for individual patients.…”

Section: Resultsmentioning

confidence: 99%

COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review

Drzymalla

Green

Knuth

et al. 2022

Clinical Immunology

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Section: Resultsmentioning

confidence: 99%

COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review

Drzymalla

Green

Knuth

et al. 2022

Clinical Immunology

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“…Immune dysregulatory diseases were the fourth most-common IEIs in children who experienced COVID-19 (n = 95, 13.4%) [ 6 , 9 , 19 , 29 , 32 , 35 , 38 , 40 , 43 , 44 , 46 , 48 , 50 , 52 , 54 , 57 , 58 , 62 , 63 , 65 , 67 , 72 – 74 , 79 , 81 , 82 , 84 , 86 , 88 , 93 – 97 , 99 , 100 , 102 , 109 , 110 , 113 , 115 , 118 , 121 , 125 , 130 ] (see Additional file 2 : Table S3). Among them, 25 have familial hemophagocytic lymphohistiocytosis (26.3% of all immune dysregulatory diseases) [ 6 , 19 , 29 , 48 , 62 , 65 , 67 , 72 , 73 , 79 , 81 , 82 , 84 , 88 , 99 , 110 , 125 ], 19 have autoimmune polyendocrine syndromes type-1 (APS-1) (20%) [ 35 , 38 , 73 , 86 , 94 , …”

Section: Resultsmentioning

confidence: 99%

“…The remaining 13 patients have NOTCH1 mutation (n = 1) [ 19 ]; ALPS-Caspase10 (n = 1) [ 19 ]; CD137 deficiency (n = 1) [ 73 ]; interleukin-37 deficiency (n = 1) [ 19 ]; IPEX syndrome (n = 1) [ 93 ]; prolidase deficiency (n = 1) [ 62 ]; PRKCD deficiency (n = 1) [ 95 ]; MAGT1 deficiency (n = 1) [ 99 ]; and unspecified immune dysregulatory disease (n = 5) [ 40 , 46 , 52 , 63 ]. The most frequent main genetic causes of immune dysregulatory diseases in children infected with SARS-CoV-2 were AIRE (n = 19) [ 35 , 38 , 73 , 86 , 94 , 102 , 113 ], LRBA deficiency (n = 6) [ 57 , 58 , 115 , 125 ], PRF1 (n = 6) [ 74 , 125 ], TPP2 (n = 5) [ 118 , 121 , 125 ], LYST (n = 4) [ 65 , 84 , 99 , 125 ], XIAP deficiency (n = 4) [ 43 , 65 , 95 , 100 ], SH2D1A deficiency (n = 4) [ 44 , 54 , 81 , 109 ], STXBP2 (n = 3) [ 19 , 73 , 125 ], UNC13D (n = 2) [ 19 , 125 ], SOCS1 deficiency (n = 2) [ 9 , 96 ], CTLA4 deficiency (n = 2) [ 32 , 95 ], and IL10RA deficiency (n = 2) [ 74 , 125 ]. For patients with immune dysregulatory diseases who acquired SARS-CoV-2, the median interquartile range (IQR) age was 108 months [60 to 168], with a male predominance [n = 55, 57.9%] [ 6 , 9 , 19 , 32 , 35 <...…”

Section: Resultsmentioning

confidence: 99%

“…In those immune dysregulatory diseases patients, few studies reported on specific allele changes (n = 15, 15.8%) [ 32 , 35 , 38 , 58 , 62 , 84 , 86 , 94 , 96 , 99 , 100 , 109 , 113 , 121 , 125 ]. Reported modes of inheritance for the immune dysregulatory diseases in children were autosomal recessive (n = 64, 67.4%) [ 6 , 19 , 29 , 35 , 38 , 48 , 57 , 58 , 62 , 65 , 67 , 72 – 74 , 79 , 81 , 82 , 84 , 86 , 88 , 94 , 95 , 99 , 102 , 110 , 113 , 115 , 118 , 121 , 125 ], X-linked (n = 10, 10.5%) [ 43 , 44 , 54 , 65 , 81 , 93 , 95 , 99 , 100 , 109 ], or autosomal dominant (n = 7, 7.4%) [ 9 , 19 , 32 , 35 , 95 , 96 ], however, mode of inheritance in these immune dysregulatory diseases cases was unknown in a high percentage of patients (n = 14, 14.7%) [ 40 , 46 , 50 , …”

Section: Resultsmentioning

confidence: 99%

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Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review

Alhumaid,

Al Mutared,

Al Alawi

et al. 2023

Allergy Asthma Clin Immunol

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Background Inborn errors of immunity (IEIs) are considered significant challenges for children with IEIs, their families, and their medical providers. Infections are the most common complication of IEIs and children can acquire coronavirus disease 2019 (COVID-19) even when protective measures are taken. Objectives To estimate the incidence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children with IEIs and analyse the demographic parameters, clinical characteristics and treatment outcomes in children with IEIs with COVID-19 illness. Methods For this systematic review, we searched ProQuest, Medline, Embase, PubMed, CINAHL, Wiley online library, Scopus and Nature through the Preferred Reporting Items for Systematic Reviews and Meta Analyses (PRISMA) guideline for studies on the development of COVID-19 in children with IEIs, published from December 1, 2019 to February 28, 2023, with English language restriction. Results Of the 1095 papers that were identified, 116 articles were included in the systematic review (73 case report, 38 cohort 4 case-series and 1 case–control studies). Studies involving 710 children with IEIs with confirmed COVID-19 were analyzed. Among all 710 IEIs pediatric cases who acquired SARS-CoV-2, some children were documented to be admitted to the intensive care unit (ICU) (n = 119, 16.8%), intubated and placed on mechanical ventilation (n = 87, 12.2%), suffered acute respiratory distress syndrome (n = 98, 13.8%) or died (n = 60, 8.4%). Overall, COVID-19 in children with different IEIs patents resulted in no or low severity of disease in more than 76% of all included cases (COVID-19 severity: asymptomatic = 105, mild = 351, or moderate = 88). The majority of children with IEIs received treatment for COVID-19 (n = 579, 81.5%). Multisystem inflammatory syndrome in children (MIS-C) due to COVID-19 in children with IEIs occurred in 103 (14.5%). Fatality in children with IEIs with COVID-19 was reported in any of the included IEIs categories for cellular and humoral immunodeficiencies (n = 19, 18.6%), immune dysregulatory diseases (n = 17, 17.9%), innate immunodeficiencies (n = 5, 10%), bone marrow failure (n = 1, 14.3%), complement deficiencies (n = 1, 9.1%), combined immunodeficiencies with associated or syndromic features (n = 7, 5.5%), phagocytic diseases (n = 3, 5.5%), autoinflammatory diseases (n = 2, 3%) and predominantly antibody deficiencies (n = 5, 2.5%). Mortality was COVID-19-related in a considerable number of children with IEIs (29/60, 48.3%). The highest ICU admission and fatality rates were observed in cases belonging to cellular and humoral immunodeficiencies (26.5% and 18.6%) and immune dysregulatory diseases (35.8% and 17.9%) groups, especially in children infected with SARS-CoV-2 who suffered severe combined immunodeficiency (28.6% and 23.8%), combined immunodeficiency (25% and 15%), familial hemophagocytic lymphohistiocytosis (40% and 20%), X-linked lymphoproliferative diseases-1 (75% and 75%) and X-linked lymphoproliferative diseases-2 (50% and 50%) compared to the other IEIs cases. Conclusion Children with IEIs infected with SARS-CoV-2 may experience higher rates of ICU admission and mortality in comparison with the immunocompetent pediatric populations. Underlying immune defects does seem to be independent risk factors for severe SARS-CoV-2 infection in children with IEIs, a number of children with SCID and CID were reported to have prolonged infections–though the number of patients is small–but especially immune dysregulation diseases (XLP1 and XLP2) and innate immunodeficiencies impairing type I interferon signalling (IFNAR1, IFNAR2 and TBK1).

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“…The homeostatic function of TPP2 is downstream of proteasomes in cytosolic proteolysis and contributes to antiapoptotic phenotype, particularly in CD8þ T cells. Although the majority of TPP2 cases are pediatric patients, lymphoproliferative diseases are one of the main manifestations of the disease [63,64].…”

Section: Senescent Cellsmentioning

confidence: 99%

Updates of cancer hallmarks in patients with inborn errors of immunity

Wang

Abolhassani

2022

Current Opinion in Allergy &Amp; Clinical Immunology

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Purpose of reviewThe development of cancer in patients with genetically determined inborn errors of immunity (IEI) is much higher than in the general population. The hallmarks of cancer are a conceptualization tool that can refine the complexities of cancer development and pathophysiology. Each genetic defect may impose a different pathological tumor predisposition, which needs to be identified and linked with known hallmarks of cancer.Recent findingsFour new hallmarks of cancer have been suggested, recently, including unlocking phenotypic plasticity, senescent cells, nonmutational epigenetic reprogramming, and polymorphic microbiomes. Moreover, more than 50 new IEI genes have been discovered during the last 2 years from which 15 monogenic defects perturb tumor immune surveillance in patients.SummaryThis review provides a more comprehensive and updated overview of all 14 cancer hallmarks in IEI patients and covers aspects of cancer predisposition in novel genes in the ever-increasing field of IEI.

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Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype

Cited by 4 publications

References 5 publications

COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review

COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review

Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review

Updates of cancer hallmarks in patients with inborn errors of immunity

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