Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

Background: DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodeficiency. A similar mutation was previously found in Nfkb2 in the immunodeficient Lym1 mouse strain, but the effect of the mutation on endocrine function was not evaluated.

Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.

Context: Among 22 independent patients from the GENHYPOPIT network who had ACTH deficiency and no identified mutation of TPIT, three of them (13.6%) displayed common variable immunodeficiency (CVID), characterized by defective Ig production.

Objective: Our objective was to describe an as yet unrecognized disease association.

Pubertal maturation of contemporary Greek boys: no evidence of a secular trend.

Purpose: To examine pubertal status of contemporary Greek boys and compare the data with those of a previous study we performed in the year 1996.

Methods: We performed a cross-sectional study of 932 healthy boys, aged from 8.05 to 16.

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

Aldosterone plays a key role in electrolyte balance and blood pressure regulation. Type 1 pseudohypoaldosteronism (PHA1) is a primary form of mineralocorticoid resistance characterized in the newborn by salt wasting, hyperkalemia, and failure to thrive. Inactivating mutations of the mineralocorticoid receptor (MR; NR3C2) are responsible for autosomal dominant and some sporadic cases of PHA1.