Disseminated Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant.

Complete interferon-γ receptor 1 deficiency is a monogenic primary immunodeficiency caused by germline defects, with autosomal dominant or recessive inheritance, which results in invasive mycobacterial diseases with varying degrees of severity. Most of the autosomal recessive mutations are homozygous loss-of-function single-nucleotide variants, whereas large genomic deletions and compound heterozygosity have been very rarely reported. Herein we describe the clinical presentation, diagnosis, and successful treatment with hematopoietic stem cell transplantation of a child with disseminated infection due to compound heterozygosity for a subpolymorphic copy number variation and a novel splice-site variant.

Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.

Autosomal Dominant Hypocalcemia (ADH) is an endocrine disorder due to activating mutations of the calcium-sensing receptor (CASR) gene. We report on a young boy who presented low serum calcium with hypercalciuria, hyperphosphatemia and low serum concentration of parathyroid hormone, not accompanied by classic clinical signs of hypocalcemia. Treatment with calcitriol and calcium did not normalize serum calcium and renal calcium excretion.

Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine.

Aims: To compare the effects of liquid and tablet formulations of levothyroxine (L-T4) in 78 newborns with congenital hypothyroidism (CH).

Methods: 39 patients received liquid L-T4 (group A) and 39 patients received tablets (group B). Thyroid-stimulating hormone (TSH) and free thyroxine (fT4) were measured and L-T4 dose recorded at onset of therapy and during the first year of treatment.

Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.

We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). To our knowledge, this is the second reported case of precocious puberty associated with 9p distal deletion.