A Novel Manifestation of Prolidase Deficiency in a Toddler Diagnosed With Very‐early‐onset Crohn Disease

Rizvi, Syed; Elder, Melissa E.; Beasley, Genie

doi:10.1097/mpg.0000000000002402

Cited by 12 publications

(6 citation statements)

References 5 publications

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“…Fifty-three percent (21/40) of patients presented a failure to thrive (Figure 1a) [18,28,50]. Of these, 12 patients were previously investigated by Besio et al in the light of bone abnormalities, namely short stature, microcephaly, osteopenia and genu valgum [28].…”

Section: Failure To Thrivementioning

confidence: 99%

Clinical Genetics of Prolidase Deficiency: An Updated Review

Spodenkiewicz

Cleary

et al. 2020

Biology

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Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent infections, splenomegaly, skin lesions, auto-immune disorders and cytopenia. To our knowledge, no published review has assembled the different clinical data and research studies over prolidase deficiency. The aim of this study is to summarize the actual state of the art from the descriptions of all the patients with a molecular diagnosis of prolidase deficiency reported to date regarding the clinical, biological, histopathological features, therapeutic options and functional studies.

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Section: Failure To Thrivementioning

confidence: 99%

Clinical Genetics of Prolidase Deficiency: An Updated Review

Spodenkiewicz

Cleary

et al. 2020

Biology

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“…While an infant with PD having colitis responded to steroids [2], another 5-y-old boy with PD and a Crohn's disease-like phenotype did not respond to steroids, methotrexate and rituximab [3]. In the present child the colonoscopy suggested features suggestive of ulcerative colitis which improved with steroids.…”

mentioning

confidence: 64%

“…This case is presented for the extreme rarity (Incidence 1-2/ 1,000,000 persons) [3], and to demonstrate the role of molecular genetics in children with VEO-IBD.…”

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confidence: 94%

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Prolidase Deficiency in Very Early Onset Inflammatory Bowel Disease (VEO-IBD)

et al. 2021

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“…Patients seem to develop a variable degree of immunedysregulation, presenting as systemic Lupus erythematodes (SLE) as it was described in 10 patients having a SLE-like disease (35). Furthermore, a case of VEOIBD in presence of TTP2 deficiency was described in a toddler (36). We are not aware of any data on possible correction of disease symptoms by alloHSCT.…”

Section: Resultsmentioning

confidence: 99%

Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders

et al. 2019

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Primary immunodeficiency disorders that predominantly affect immune regulation and mechanisms of self-tolerance have come into the limelight, because at least for a subgroup of monogenetic disorders, a targeted therapy has become available. Nevertheless, their management often involves the treatment of severely compromising, refractory, multi-organ autoimmunity, leading to further increased susceptibility to infections and complications of long-term immune suppressive treatment, including the risk of malignancy. While evidence for allogeneic hematopoietic stem cell transplantation (alloHSCT) as a curative treatment option for severely affected patients by this disease category accumulates, clear indications, and guidelines for alloHSCT are lacking. Predictive and stratification-relevant tools such as disease activity scores are largely missing and often there is not a consistent genotype-phenotype correlation within the same family to facilitate the decision whether to transplant or not. In this review, we provide a literature-based update on indications and outcomes of alloHSCT for congenital immune dysregulative inborn errors of immunity according to the IUIS classification 2017.

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A Novel Manifestation of Prolidase Deficiency in a Toddler Diagnosed With Very‐early‐onset Crohn Disease

Cited by 12 publications

References 5 publications

Clinical Genetics of Prolidase Deficiency: An Updated Review

Clinical Genetics of Prolidase Deficiency: An Updated Review

Prolidase Deficiency in Very Early Onset Inflammatory Bowel Disease (VEO-IBD)

Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders

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