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ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.

Publication ,  Journal Article
Van Nieuwenhove, E; Humblet-Baron, S; Van Eyck, L; De Somer, L; Dooley, J; Tousseyn, T; Hershfield, M; Liston, A; Wouters, C
Published in: Pediatrics
September 2018

Multicentric Castleman disease (MCD) is a rare entity that, unlike unicentric Castleman disease, involves generalized polyclonal lymphoproliferation, systemic inflammation, and multiple-organ system failure resulting from proinflammatory hypercytokinemia, including, in particular, interleukin-6. A subset of MCD is caused by human herpesvirus-8 (HHV-8), although the etiology for HHV-8-negative, idiopathic MCD (iMCD) cases is unknown at present. Recently, a consensus was reached on the diagnostic criteria for iMCD to aid in diagnosis, recognize mimics, and initiate prompt treatment. Pediatric iMCD remains particularly rare, and differentiation from MCD mimics in children presenting with systemic inflammation and lymphoproliferation is a challenge. We report on a young boy who presented with a HHV-8-negative, iMCD-like phenotype and was found to suffer from the monogenic disorder deficiency of adenosine deaminase 2 (DADA2), which is caused by loss-of-function mutations in CECR1 DADA2 prototypic features include early-onset ischemic and hemorrhagic strokes, livedoid rash, systemic inflammation, and polyarteritis nodosa vasculopathy, but marked clinical heterogeneity has been observed. Our patient's presentation remains unique, with predominant systemic inflammation, lymphoproliferation, and polyclonal hypergammaglobulinemia but without apparent immunodeficiency. On the basis of the iMCD-like phenotype with elevated interleukin-6 expression, treatment with tocilizumab was initiated, resulting in immediate normalization of clinical and biochemical parameters. In conclusion, iMCD and DADA2 should be considered in the differential diagnosis of children presenting with systemic inflammation and lymphoproliferation. We describe the first case of DADA2 that mimics the clinicopathologic features of iMCD, and our report extends the clinical spectrum of DADA2 to include predominant immune activation and lymphoproliferation.

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Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

September 2018

Volume

142

Issue

3

Location

United States

Related Subject Headings

  • Pediatrics
  • Male
  • Intercellular Signaling Peptides and Proteins
  • Humans
  • Diagnosis, Differential
  • Child, Preschool
  • Castleman Disease
  • Adenosine Deaminase
  • 52 Psychology
  • 42 Health sciences
 

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Van Nieuwenhove, E., Humblet-Baron, S., Van Eyck, L., De Somer, L., Dooley, J., Tousseyn, T., … Wouters, C. (2018). ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease. Pediatrics, 142(3). https://doi.org/10.1542/peds.2017-2266
Van Nieuwenhove, Erika, Stephanie Humblet-Baron, Lien Van Eyck, Lien De Somer, James Dooley, Thomas Tousseyn, Michael Hershfield, Adrian Liston, and Carine Wouters. “ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.Pediatrics 142, no. 3 (September 2018). https://doi.org/10.1542/peds.2017-2266.
Van Nieuwenhove E, Humblet-Baron S, Van Eyck L, De Somer L, Dooley J, Tousseyn T, et al. ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease. Pediatrics. 2018 Sep;142(3).
Van Nieuwenhove, Erika, et al. “ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease.Pediatrics, vol. 142, no. 3, Sept. 2018. Pubmed, doi:10.1542/peds.2017-2266.
Van Nieuwenhove E, Humblet-Baron S, Van Eyck L, De Somer L, Dooley J, Tousseyn T, Hershfield M, Liston A, Wouters C. ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease. Pediatrics. 2018 Sep;142(3).

Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

September 2018

Volume

142

Issue

3

Location

United States

Related Subject Headings

  • Pediatrics
  • Male
  • Intercellular Signaling Peptides and Proteins
  • Humans
  • Diagnosis, Differential
  • Child, Preschool
  • Castleman Disease
  • Adenosine Deaminase
  • 52 Psychology
  • 42 Health sciences