IgG4 deficiency with Rothmund-Thomson syndrome: A case report

Kubota, Masaru; Yasunaga, M; Hashimoto, Hiroyuki; Kimata, Hajime; Mikawa, Harukí; Shinya, Akemi; Nishigori, Chikako

doi:10.1007/bf01955898

Cited by 17 publications

(12 citation statements)

References 13 publications

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“…None of the more common conditions causing chronic bronchitis and bronchiectasis such as cystic fibrosis, ciliary dyskinesia, humoral immune deficiencies, or chronic aspiration, were present in the current patients 5 . It is noteworthy that both children did not have IgG4 deficiency 7 or decreased T‐cell reactivity 6 as previously reported.…”

Section: Discussionsupporting

confidence: 72%

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Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome

Reix¹,

Derelle²,

Levrey-Hadden³

et al. 2007

Pediatrics International

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Since the descriptions by Dr Rothmund in 1868 1 and by Dr Thomson in 1923, 2 less than 250 cases of RothmundThomson Syndrome (RTS) have been reported in the medical literature. Acute photodistributed reticular erythema with poikiloderma is consistently present, in keeping with the seminal descriptions. 2 Growth retardation, radial ray malformations, juvenile cataract, and a predisposition to malignancies may also be present. 3,4 Bronchiectasis is an uncommon disease in children that can lead to severe illness. 5 Lower respiratory tract infections in patients with RTS have rarely been described, 6,7 but bronchiectasis has never previously been reported. We report two cases of RTS in which localized bronchiectasis developed. Case reports Patient 1This European girl born in 1990 was the second child of nonconsanguineous parents. She was born at full term with normal weight (3.2 kg) and length (50 cm). RTS was suspected at 5 months of age and diagnosed at 16 months of age because of development of reticular erythema on face and dorsal aspects of the hands, followed by facial poikiloderma and erythema, together with sparse eyebrows and onyxis. Spots of skin hypoor hyperpigmentation developed later. There were no limb abnormalities or cataract. Growth was moderately retarded (−1.5 SD for height and −2 SD for weight). Puberty occurred at the normal age. A karyotype on skin fi broblasts showed multiple spontaneous chromosome breaks (1, 2, 6, 15, 16), whereas a nucleotide excision repair study (recovery of RNA synthesis) on skin fi broblasts revealed normal results. She was suggested as being a compound heterozygote for the mutations in the RECQL4 genes: (1048-1049delAG) in exon 5 and (1149G>A/ W383X) in exon 6.Upper and lower respiratory tract infections occurred early in childhood and were followed by a history of chronic bronchitis with copious sputum production. Atelectasis of the left lower lobe was fi rst observed on a chest radiograph taken at 18 months of age. At 6 years old, localized bronchiectasis was found in the left lower lobe and confi rmed by computed tomography (CT) scan of the chest ( Fig. 1a). Pulmonary function tests (PFT) performed prior to surgery were normal ( Table 1). Due to recurrent bronchitis exacerbations originating from the focus of bronchiectasis (confi rmed on endoscopic fi ndings), a left lower lobectomy was performed at 6 years of age. After a brief improvement, the respiratory symptoms recurred. Another focus of bronchiectasis was found in the left Fowler lobe at 8 years of age and was removed by partial lobectomy 3 years later. This second procedure produced a sustained clinical improvement. The sweat test and ciliary motility study were normal. There was no previous clinical history of chronic aspiration and pH study was normal. Several routine immunological investigations were normal ( Table 2). Patient 2This European boy born in 1990 with normal birthweight (3.1 kg) and length (49 cm) was the fi rst child of non-consanguineous parents. Radial and thumb hypoplasia were observed at bi...

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Section: Discussionsupporting

confidence: 72%

“…Bronchiectasis is an uncommon disease in children that can lead to severe illness 5 . Lower respiratory tract infections in patients with RTS have rarely been described, 6,7 but bronchiectasis has never previously been reported. We report two cases of RTS in which localized bronchiectasis developed.…”

mentioning

confidence: 99%

Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome

Reix¹,

Derelle²,

Levrey-Hadden³

et al. 2007

Pediatrics International

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show abstract

“…Although immune defects are not among the classical features of this syndrome, a few RTS patients with immunological abnormalities have been reported. In the 1990s, 2 RTS patients with humoral immune deficiencies (involving hypogammaglobulinemia) were described (87, 88). In 2006, Broom et al described a patient with CID and a classic RTS phenotype who experienced successful immune reconstitution following umbilical cord blood transplantation (89).…”

Section: Resultsmentioning

confidence: 99%

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

et al. 2019

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Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. Several NGS approaches are available, from the unbiased whole exome sequencing (WES) to specific gene panels. Here, we report on a 3-year experience with clinical exome sequencing (CES) for genetic diagnosis of PIDs. We used the TruSight One sequencing panel, which includes 4,813 disease-associated genes, in 61 unrelated patients (pediatric and adults). The analysis was done in 2 steps: first, we focused on a virtual PID panel and then, we expanded the analysis to the remaining genes. A molecular diagnosis was achieved in 19 (31%) patients: 12 (20%) with mutations in genes included in the virtual PID panel and 7 (11%) with mutations in other genes. These latter cases provided interesting and somewhat unexpected findings that expand the clinical and genetic spectra of PID-related disorders, and are useful to consider in the differential diagnosis. We also discuss 5 patients (8%) with incomplete genotypes or variants of uncertain significance. Finally, we address the limitations of CES exemplified by 7 patients (11%) with negative results on CES who were later diagnosed by other approaches (more specific PID panels, WES, and comparative genomic hybridization array). In summary, the genetic diagnosis rate using CES was 31% (including a description of 12 novel mutations), which rose to 42% after including diagnoses achieved by later use of other techniques. The description of patients with mutations in genes not included in the PID classification illustrates the heterogeneity and complexity of PID-related disorders.

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“…Recently, an increasing number of reports on increased susceptibility to infections and immune deficiency in RTS are emerging. Kubota reported an RTS patient with susceptibility to sinopulmonary infections and IgG4 deficiency [14]. Ito reported a 4-year-old Japanese boy with RTS presenting with herpes encephalitis at 5 months of age.…”

Section: Discussionmentioning

confidence: 99%

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

Somer

Wouters

Morren

et al. 2010

Orphanet J Rare Dis

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Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency. Although granulomatous disorders are sometimes seen after Herpes zoster, they are even more rare after Varicella primary infection. Granulomas have hitherto not been described in Rothmund-Thomson syndrome. With this report we aim to stress the importance of screening for immune deficiency in patients with Rothmund-Thomson syndrome.

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IgG4 deficiency with Rothmund-Thomson syndrome: A case report

Abstract: We describe a patient with Rothmund-Thomson syndrome and IgG4 deficiency. In vitro examination of his peripheral mononuclear cells revealed impaired IgG4 synthesis. Susceptibility to sinus and pulmonary infections was cured by monthly immunoglobulin infusions.

Cited by 17 publications

References 13 publications

Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome

Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

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