Kabuki (Niikawa‐Kuroki) syndrome associated with immunodeficiency

Chrzanowska, K; Krajewska‐Walasek, M; J, Kuś; Michalkdewicz, J.; Maziarka, D.; Wolski, J; Brecevic, Lukrecija; Madaliński, K

doi:10.1111/j.1399-0004.1998.tb02702.x

Cited by 41 publications

(17 citation statements)

References 13 publications

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“…Diminished T-cell function by response on phytohaemagglutinin and reduced naive T-helper cells were reported in one patient with Kabuki syndrome. 54 Autoimmune disorders, including idiopathic thrombocytopenia purpura, are common in children with Kabuki syndrome. 53,55 Thus, CHARGE syndrome and the clinically overlapping 22q11.2 deletion syndrome share an increased prevalence of T-cell dysfunction.…”

Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

CHARGE syndrome: a review of the immunological aspects

et al. 2015

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CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been described, but are generally given little attention in studies on CHARGE syndrome. However, structured information on immunological abnormalities in CHARGE patients is necessary to develop optimal guidelines for diagnosis, treatment and follow-up in these patients. Here, we provide an overview of the current literature on immunological abnormalities in CHARGE syndrome. We also explore immunological abnormalities in comparable multiple congenital anomaly syndromes to identify common immunological phenotypes and genetic pathways that might regulate the immune system. Finally, we aim to identify gaps in our knowledge on the immunological aspects in CHARGE syndrome that need further study.

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Section: Immunological Abnormalities Reported In Charge Syndromementioning

confidence: 99%

CHARGE syndrome: a review of the immunological aspects

et al. 2015

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“…As seen in Table 3, 13 patients showed incidence of infections (50% of cases) and 8 patients showed alterations in the immune system (30% of cases). The most frequent infections found in the literature are recurrent cases of otitis media, pneumonia and urinary tract infections (CHRZANOWSKA et al, 1998). In the present study, there were identified cases of human immunodeficiency virus (HIV-1) immunoglobulin A (IgA) and immunoglobulin G (IgG), ITP (Immune Thrombocytopenic Purpura) and low CD8 T lymphocyte expression (EWART-TOLAND et al, 1998;CHRZANOWSK et al, 1998;KAWAME et al, 1999).…”

Section: Discussionmentioning

confidence: 59%

Systematic review of Kabuki Syndrome’s phenotype with KMT2D gene mutation

Fischetti

Zaccarelli-Magalhães

Fukushima

et al. 2019

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Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

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“…Despite differences in incidence, KS is clinically characterized by distinctive facial appearances, skeletal anomalies, abnormal dermatoglyphic patterns, and mental retardation. There are reports of abnormalities and complications involving the endocrine system [13], connective tissue [14], and immunoregulatory mechanisms [15]; therefore, a patient's general condition should be carefully evaluated [16]. The distinctive facial features of KS, such as arched eyebrows, eversion of the lower eyelids, and long palpebral fissures, are major signs of this syndrome, and the term "Kabuki syndrome" is derived from these characteristics.…”

Section: Discussionmentioning

confidence: 99%