Evolution of the skin manifestations of X‐linked pigmentary reticulate disorder

Starokadomskyy, Petro; Sifuentes-Dominguez, Luis; Gemelli, Terry; Zinn, Andrew R.; Dossi, María Teresa; Mellado, Cecília; Bertrand, P.; Borzutzky, Arturo; Burstein, Ezra

doi:10.1111/bjd.15586

Cited by 13 publications

(16 citation statements)

References 9 publications

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“…Furthermore, because of alterations in nucleic acid metabolism, XLPDR is also associated with profound type I IFN activation (10), which has not been reported in other NK cell deficiencies and may be responsible for these differences. In fact, some of the unique aspects of XLPDR, such as its autoinflammatory manifestations (keratitis, urinary tract strictures, and gastrointestinal inflammation) are probably because of its associated interferonopathy and appear unrelated to NK cell dysregulation (10,11).…”

Section: Discussionmentioning

confidence: 99%

“…In addition to the functional defects shown here, XLPDR shares with IMD54 a reduction in the number of circulating stage V NK cells. MCM4 and GINS1 mutations are associated with significant growth delay, which is also seen in POLA1 mutations that lead to limited functional reserve (13), but not in XLPDR (9)(10)(11). Because MCM4 deficiency leads to reduced cell proliferation, the NK cell differentiation defect has been thought to result from this proliferation defect.…”

Section: Discussionmentioning

confidence: 99%

“…X-linked reticulate pigmentary disorder (XLPDR, Mendelian Inheritance in Man [MIM] #301220) is a rare syndrome that has been reported in only 24 patients worldwide (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11). It is characterized by constitutional features (unique facial features and hypohidrosis), hyperpigmentation, and sterile multiorgan inflammation involving the eyes (keratitis, corneal scarring, and ultimately blindness), intestine (infantile enterocolitis and jejunal Crohn's disease), and urinary tract (ureteral and urethral inflammation, scarring, and stricture formation).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

NK cell defects in X-linked pigmentary reticulate disorder

Starokadomskyy¹,

Wilton²,

Krzewski³

et al. 2019

JCI Insight

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

NK cell defects in X-linked pigmentary reticulate disorder

Starokadomskyy¹,

Wilton²,

Krzewski³

et al. 2019

JCI Insight

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“…[9][10][11][12][13][14] Interestingly, a recurrent, deep-intronic mutation in POLA1 was recently found to cause X-linked reticulate pigmentary disorder (XLPDR; MIM: 301220), a primary immunodeficiency with autoinflammatory features, as well as skin hyperpigmentation and a prototypical facial gestalt. 15,16 This intronic mutation creates a novel exon 13a in the POLA1 transcript, reducing the total amount of p180-POLa protein. XLPDR-affected individuals do not exhibit intellectual disability, altered body growth, or smaller head circumference, and this might indicate tissue-specific differences in abnormal splicing.…”

mentioning

confidence: 99%

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

Esch

Colnaghi

Freson

et al. 2019

The American Journal of Human Genetics

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Replicating the human genome efficiently and accurately is a daunting challenge involving the duplication of upward of three billion base pairs. At the core of the complex machinery that achieves this task are three members of the B family of DNA polymerases: DNA polymerases a, d, and ε. Collectively these multimeric polymerases ensure DNA replication proceeds at optimal rates approaching 2 3 10 3 nucleotides/min with an error rate of less than one per million nucleotides polymerized. The majority of DNA replication of undamaged DNA is conducted by DNA polymerases d and ε. The DNA polymerase a-primase complex performs limited synthesis to initiate the replication process, along with Okazaki-fragment synthesis on the discontinuous lagging strand. An increasing number of human disorders caused by defects in different components of the DNA-replication apparatus have been described to date. These are clinically diverse and involve a wide range of features, including variable combinations of growth delay, immunodeficiency, endocrine insufficiencies, lipodystrophy, and cancer predisposition. Here, by using various complementary approaches, including classical linkage analysis, targeted next-generation sequencing, and whole-exome sequencing, we describe distinct missense and splice-impacting mutations in POLA1 in five unrelated families presenting with an X-linked syndrome involving intellectual disability, proportionate short stature, microcephaly, and hypogonadism. POLA1 encodes the p180 catalytic subunit of DNA polymerase a-primase. A range of replicative impairments could be demonstrated in lymphoblastoid cell lines derived from affected individuals. Our findings describe the presentation of pathogenic mutations in a catalytic component of a B family DNA polymerase member, DNA polymerase a.

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“…He was diagnosed with X‐linked reticulate pigmentary disorder (XLRPD, also termed XLRPD with systemic manifestations) . XLRPD is an interferonopathy caused by POLA1 mutation . It is characterized by reticulate dyschromia, unique facial features, recurrent infection and sterile inflammation in various organs.…”

mentioning

confidence: 99%

Image Gallery: Cutaneous findings in an adult with X‐linked reticulate pigmentary disorder

Lin

2019

Br J Dermatol

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Evolution of the skin manifestations of X‐linked pigmentary reticulate disorder

Cited by 13 publications

References 9 publications

NK cell defects in X-linked pigmentary reticulate disorder

NK cell defects in X-linked pigmentary reticulate disorder

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

Image Gallery: Cutaneous findings in an adult with X‐linked reticulate pigmentary disorder

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