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Profound T‐cell defects in Dubowitz syndrome

To the Editor, Dubowitz syndrome is a rare autosomal recessive disorder characterized by short stature, microcephaly, low platelet counts, dysmorphic features, eczema, and mild to severe mental retardation. Less than 150 cases have been reported so far in the literature, and diagnosis is mainly based on key clinical findings (1–5). Clinical presentation is rather variable and the only core clinical feature seems to be a characteristic face (3). While the neurologic/behavioral features have been deeply investigated, the immunologic characterization of this syndrome remains rather incomplete, apart from anecdotal reports of selective IgA deficiency, hypogammaglobulinemia and hyper-IgE-like syndrome in index cases (6–9). We report on the first extensive immunologic evaluation of a male patient with Dubowitz syndrome revealing profound T-cell defects resembling combined immunodeficiency. The patient was born to consanguineous parents of Pakistani origin. He came to our attention at the age of 8 for immunologic evaluation due to partial IgA deficiency. His clinical history included short stature (height: 120 cm <3°; weight: 18.5 kg <3°, cranial circumference: 49 cm <3°), delay in mental development and speech, recurrent episodes of thrombocytopenia (with normal bone marrow aspirate). Key clinical features included high and receding forehead, sparse lateral eyebrows, blepharoptosis, abnormal ear conformation, broad and flat nose bridge, clinodactyly of the fifth finger of the hand and cutaneous syndactyly between the fourth and fifth fingers of the feet (Fig. 1a). Skin inspection revealed eczema in folds, keratosis pilaris on the back of arms and legs, and numerous molluscum contagiosum lesions (Fig. S1). Based on these clinical findings, diagnosis of Dubowitz syndrome was made. The patient’s infectious history was particularly severe: sepsis at 6 yr of age, osteomyelitis at 8 yr of age and recurrent molluscum contagiosum skin infections from the age of 6. Asymptomatic low platelet counts were confirmed (ranging from 42.000 to 66.000/mm), while the rest of the differential blood count was normal. Immunoglobulin serum levels were normal, with the exception of IgA serum levels at the lower range for age: IgG: 1370 mg/dl (normal range for age: 633– 1916), IgA: 31 mg/dl (normal range for age: 41–315), IgM: 64 mg/dl (normal range for age: 56–261). Biochemical features such as cholesterol, LDL, HDL levels were within the normal range (cholesterol 160 mg/dl, LDL: 98 mg/dl, HDL 44 mg/dl). The patient carried a normal karyogram. No chromosomal instability, both spontaneous and bleomycin induced, was observed. Recently, the NSUN2 gene was reported to be