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B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

We report on a three generation family with four affected members presenting with a combination of B cell immunodeficiency, distal limbs abnormalities, genitourinary malformations, and mild dysmorphic features. All affected patients had normal intelligence and growth. No chromosomal abnormalities were observed using both standard and high resolution banding methods on the patients' lymphocytes. The observation of affected subjects of both sexes along with the occurrence of one male to male transmission suggests autosomal dominant inheritance of the trait with marked intrafamilial variable expression of the disease. While several multiple congenital anomalies (MCA) syndromes include both skeletal dysplasia and immune deficiency, the striking combination of congenital anomalies presented here, for which we propose the acronym BILU (B cell Immunodeficiency, Limb anomalies, and Urogenital malformations), is likely to represent a novel MCA syndrome.

The proband (case 1, IV.1, fig 1) is an only child, born to unrelated parents. He was born at term by caesarian section with normal measurements (weight 3620 g, length 50 cm, and OFC 37 cm). Genital anomalies noted at birth included micropenis, scrotal hypospadias, and bilateral cryptorchidism, which required multiple surgical corrections. Despite testosterone substitution therapy, the size of the testes and penis only increased during puberty. Endocrine investigations including basal state testosterone, dihydrotestosterone, adrenal hormones, gonadotrophin plasma levels, gonadotrophin response to LHRH, and testosterone response to HCG were normal. Ultrasonography of the urinary system showed bilateral hydronephrosis.



Figure 1 
(A) Three generation pedigree including four affected members. The arrow indicates the proband. (B) (a, b) Face of the proband (IV.1). (c, d) Face of proband's father (III.2).



Urography (IV) showed right hydronephrosis with atresia of the upper segment of the right ureter, right vesicoureteral reflux, and absence of secretion in the left kidney (fig 2). A left ureteronephrectomy was performed at 2½ months. Histological examination of the left urinary …