Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J Anderson, Stephen Kingsmore, Ron S Newfield, Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J Anderson, Stephen Kingsmore, Ron S Newfield

Abstract

IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X-linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.

Keywords: X‐linked; autoimmunity; bone marrow transplantation; diabetes mellitus; infant.

Conflict of interest statement

Dr Ron Newfield reports grants from Merck (sitagliptin diabetes trial), and from TrialNet (NIH sponsored type 1 diabetes trials), that are outside the submitted work. The other authors declare no potential conflict of interests.

© 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Figures

Figure 1
Figure 1
Growth chart. A, Length. B, Body mass index (BMI)

References

    1. De Franco E, Flanagan SE, Houghton JA, et al. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet. 2015;386(9997):957‐963.
    1. Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome: National Library of Medicine (US) . Genetics Home Reference [Internet]. Bethesda, MD: The Library; 2013.
    1. Rubio‐Cabezas O, Minton JA, Caswell R, et al. Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care. 2009;32:111‐116.
    1. van der Vliet HJ, Nieuwenhuis EE. IPEX as a result of mutations in FOXP3. Clin Dev Immunol. 2007;2007:89017 10.1155/2007/89017.
    1. Barzaghi F, Amaya Hernandez LC, Neven B, et al. Long‐term follow‐up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immunol. 2017;141(3):1036‐1049.e5.
    1. Richards S, Aziz N, Bale S, et al. Standard and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Associate for Molecular Pathology. Genet Med. 2015;17:405‐424.
    1. Otsubo K, Kanegane H, Kamachi Y, et al. Identification of FOXP3‐negative regulatory T‐like (CD4(+)CD25(+), CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome. Clin Immunol. 2011;141:111‐120.
    1. Halabi‐Tawil M, Ruemmele FM, Fraitag S, et al. Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome. Br J Dermatol. 2009;160:645‐651.
    1. Gambineri E, Perroni L, Passerini L, et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol. 2008;122:1105‐1112.
    1. Burroughs LM, Torgerson TR, Storb R, et al. Stable hematopoietic cell engraftment after low‐intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome. J Allergy Clin Immunol. 2010;126:1000‐1005.
    1. Baud O, Goulet O, Canioni D, et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med. 2001;344:1758‐1762.
    1. Tan Q, Louie RJ, Sleasman JW. IPEX Syndrome In: Adam MP, Ardinger HH, Pagon RA. et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993. ‐2019.

Source: PubMed

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