Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome

Abstract

We describe a 34-year-old male patient with Jacobsen syndrome associated with a broad spectrum of anomalies and an increased susceptibility to infections. Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia. Chromosome analysis disclosed a mosaic 46,XY,del(11)(q24.1)/46,XY karyotype with a very low percentage of normal cells. In addition, transverse upper limb defect, imperforate anus, and hearing impairment were noted. Cellular anomalies include functional impairment and deficiency of T-helper cells, and a low serum immunoglobulin M (IgM)-level. The presence of a transverse limb defect and primary immunodeficiency has not been reported previously in Jacobsen syndrome.

Hypogammaglobulinemia in a 12‐year‐old Patient With Jacobsen Syndrome

“…2 Various presentations of mesenteric cyst have been described in literature. 3,4 An extensive PUBMED search did not reveal a single case of a mesenteric cyst in paediatric age group presenting as secondary type 1 hypoaldosteronism. We herein present a rare case of a mesenteric cyst in a neonate causing obstructive uropathy and secondary type 1 PHA.…”

“…1 The association of JS with an immune alteration (humoral and/or cellular) has been described only sporadically. [2][3][4][5] A boy with JS, currently 12 years of age, is herein described. Diagnosis was established based on clinical findings (thrombocy-topenia, umbilical and bilateral inguinal hernia, left hydrocele, right cryptorchidism, severe mental retardation, cardiac alterations, corneal opacity, facial dysmorphism and clinodactyly).…”

“…The association of immunologic alterations with JS is uncommon and poorly defined. [2][3][4][5] Sirvent et al 2 immunity involving a CD3+CD4+ deficit and decreased proliferative response. 4 Puglisi et al have recently described two cases of 11q terminal deletion disorder and common variable immunodeficiency (CVID).…”

“…[2][3][4][5] Sirvent et al 2 immunity involving a CD3+CD4+ deficit and decreased proliferative response. 4 Puglisi et al have recently described two cases of 11q terminal deletion disorder and common variable immunodeficiency (CVID). 5 Although data on the use of IVIG therapy in JS patients is scarce, the clinical and immunological similarities of our case with CVID lead us to assume its effectiveness.…”

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA

“…Limb malformations described in JS are mostly finger syndactyly, finger pads or V th finger clinodactyly (Grossfeld et al, ). Nevertheless, transverse limb defects have already been reported three times in JS (Von Bubnoff et al, ; So et al, ; Fujita et al, ). Low penetrance of this malformation could be explained by a multifactorial model.…”