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

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.

Diseases Associated with Defects in tRNA CCA Addition

“…Bader-Meunier et al reported four cases of early-onset panniculitis associated with inherited B-or T cell immunodeficiency [43]. Of the four cases reported, compound heterozygous mutation in TRNT1 (c.1213G>A/c.1057-7C>G) was identified in one child, expanding the repertoire of phenotypes associated with TRNT1.…”

Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome

“…However, one adult patient presented lichen sclerosus et atrophicus and morphea (6). Panniculitis, but not relapsing erythema nodosum, was previously reported in one SIFD patient (7). Since the first publication on SIFD, several studies have described other patients harboring disease-causing mutations in TRNT1, notably bearing phenotypes incompatible with the original description, such as the present case.…”

Neutrophilic Panniculitis in a child with MYSM1 deficiency

“…There are few reports of NP in the pediatric age group, including one patient with rheumatoid arthritis, one on granulocyte colony‐stimulating factor, and few receiving vemurafenib . It has recently been also reported in children with PI including TRNT1 , NF‐ b2 , and LCK gene mutations …”