Kabuki make‐up syndrome associated with chronic idiopathic thrombocytopenic purpura

Abstract

Although susceptibility to infections in Kabuki make-up syndrome (KMS) has frequently been reported, there have been few immunological studies. We describe a 14 year old girl with KMS exhibiting chronic idiopathic thrombocytopenic purpura (chronic ITP), including immunological studies.Corticosteroid therapy was not effective therefore splenecfomy was performed. The patient's platelet count increased transiently. Immunological studies revealed normal T cell functions and low serum immunoglobulin A (1gA) levels.Because of the abnormalities of B cell functions in chronic ITP and low serum IgA levels in our patient, we speculate that there may be some abnormalities of humoral immunity in KMS.

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

“…Autoimmunity has been described several times in KS patients, namely hypothyroidism [Ewart-Toland et al, 1998;Kawame et al, 1999], anemia or thrombopenia [Niikawa et al, 1988;Bay et al, 1993;Watanabe et al, 1994;Hostoffer et al, 1996;McGaughran et al, 2000;Ming et al, 2001a], and vitiligo [Schrander-Stumpel et al, 1993;Ewart-Toland et al, 1998;McGaughran et al, 2000]. In our series, one patient had autoimmune thrombopenia and two patients have vitiligo.…”

Patellar dislocation in Kabuki syndrome

“…We are aware of 38 individuals reported with Kabuki syndrome aged 10 years or more, including those in the reports containing individuals with patellar dislocation [Niikawa et al, 1988;Ikegawa et al, 1993;Burke and Jones, 1995] and those without [Philip et al, 1992;Franceschini et al, 1993;Watanabe et al, 1994;Ilyina et al, 1995;Li et al, 1996;Yano et al, 1997;Wilson, 1998;Mhanni et al, 1999]. This would give a rough frequency of individuals with patellar dislocation of 7 in 38 (18%) among older children and young adults with the syndrome.…”

Epigenetic control of the immune system: a lesson from Kabuki syndrome

“…Furthermore, normal levels of T cell receptor excision circles (TRECS) and kappa-deleting recombination excision circles (KRECS) indicate normal output of naïve T and B cells from the thymus and bone marrow, respectively [10]. In vitro studies of T cell proliferation after stimulus with mitogens are normal in KS [38,41]. Furthermore, protective levels of specific antibodies in response to immunizations (both with polysaccharide and protein antigens) have been documented in the majority of the cases studied [9,36], though with several exceptions [9,10,38,39].…”

“…Patients with KS might also display positive Coombs tests or a clinically overt autoimmune hemolytic anemia [34,45,47,50], autoimmune thyroiditis, and vitiligo [35,37,38,41,42,45,46,[49][50][51][52][53][54][55][56][57][58] (Table 1). In a mutational analysis referred to 12 Korean patients with KS, Cheon et al [19] reported one 51.8-month-old child with Hashimoto thyroiditis, though negative to the KMT2D mutation analysis.…”

“…An increased rate of autoimmune manifestations has been documented in KS. Idiopathic thrombocytopenic purpura (ITP) is rare in the general population, with an overall incidence inferior than 1/10.000, whereas more than 20 cases (Table 1) have been described so far in patients with KS of variable age, from early childhood to adulthood [9,34,[36][37][38][41][42][43][44][45][46][47][48]. Moreover, in a number of these, ITP had a more severe chronic or relapsing course, and in some patients, it was complicated by pancytopenia.…”