Eczematoid lesions and extensive molluscum contagiosum in a child with novel CARMIL2 defect

To the Editor, Combined immunodeficiencies (CIDs) are a group of inborn errors of immunity characterized by defects in development and function in both B and T cell immunity.Patients with CIDs have increased susceptibility to opportunistic infections; however, the disease severity is lower compared to severe combined immunodeficiency (SCID). 1 CARMIL2 (capping protein regulator and myosin 1 linker 2) deficiency is one of the recently described autosomal recessive forms of CID 2 .Herein we describe a child with CARMIL2 deficiency with eczematoid lesions, and extensive molluscum contagiosum with a novel splice-site mutation. C A S E DE TAIL SA 4-year-old male child, third born to a second-degree consanguineously married couple from the Northern part of India (Jammu and Kashmir) presented to us with recurrent episodes of itching, and redness over the face and trunk since 6 months of age.He also had one episode of pneumonia at 2 years of age requiring hospital admission and intravenous antimicrobials.On clinical examination, he had eczematous lesions in face, trunk, both flexor and extensor aspects of upper and lower limbs.He also had multiple molluscum lesions over the face, scalp, and back (Figure 1).Onychomycosis was noted in the fingers of lower and upper limbs.He had right sided club foot.Other systemic examination was unremarkable.Clinical differential diagnoses of autosomal recessive Hyper-IgE syndrome (DOCK8 deficiency) and Wiskott-Aldrich syndrome were considered and evaluated for the same.Blood investigations revealed anemia (Hb-88 g/L), leukocytosis with eosinophilia (18.58 × 10 9 /L, neutrophils 35%, lymphocytes 52%, monocytes 7%, eosinophils 6%), and normal platelet counts.He also had elevated inflammatory parameters at the time of evaluation (erythrocyte sedimentation rate-32 mm/h.and C-reactive protein-46.8 mg/L).Serology for human immunodeficiency virus was negative.Immunological investigations revealed a mild reduction in CD4+ T lymphocytes and a reduction in CD4/CD8 ratio (Table S1).The percentage of CD4 + CD127-CD25+ cells was low (2.7%) compared to the age-matched control (6.9%).The absolute counts of T-regulatory cells (CD4 + CD127-CD25+FOXP3+) cells were also reduced in the patient compared to the age-matched control (Figure 2A). T-cell proliferation assayPeripheral blood mononuclear cells (PBMCs) were isolated and the assay was done using carboxyfluorescein diacetate succinimidyl