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Pediatrics. 2018 Apr;141(Suppl 5):S496-S500. doi: 10.1542/peds.2017-0213.

Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis.

Author information

1
Départements d'Immunologie, Hématologie, et Rhumatologie Pédiatrique, brigitte.bader-meunier@aphp.fr.
2
Institut Imagine, INSERM U1163.
3
Département d'Immunologie et Rhumatologie Pédiatrique, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Quebec, Canada.
4
Départements d'Immunologie, Hématologie, et Rhumatologie Pédiatrique.
5
d'Anatomie Pathologique, and.
6
de Dermatologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
7
Université Paris Descartes, Sorbonne Cité, Paris, France; and.

Abstract

We report on 4 children who presented with aseptic panniculitis associated with inherited immunodeficiency. Three patients had a B-cell immunodeficiency resulting from mutations in the TRNT1 and NF-κb2 genes (no mutation was found in the third patient), and 1 had a T-cell deficiency (mutation in the LCK gene). Panniculitis occurred before the age of 2 years in the 4 patients and preceded the onset of recurrent infections because of immunodeficiency in 2. It presented either as nodules, which resolved spontaneously within 1 to 2 weeks (3 patients), or chronic ulcerative lesions (1 patient) associated with unexplained fever and elevated acute phase reactants, without evidence of infection or high-titer autoantibodies. Febrile nodules relapsed in 2 patients, and recurrent attacks of unexplained fever (without relapse of panniculitis) occurred in the third. Skin biopsy revealed predominantly lympho-histiocytic or septal neutrophilic panniculitis in 1 and 3 patients, respectively. Panniculitis was associated with dermal involvement in the 4 patients. Patients with B-cell deficiency received monthly intravenous immunoglobulin replacement. Two patients who underwent bone marrow transplant died of bone marrow transplant-related complications. The 2 remaining patients had persistent, mild autoinflammatory disease, which did not require specific treatment. In these cases, the need for careful immunologic evaluation of patients who present with unexplained panniculitis, especially early-onset panniculitis before the age of 2 years, is highlighted.

PMID:
29610179
DOI:
10.1542/peds.2017-0213

Conflict of interest statement

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

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