A novel homozygous DOCK8 mutation associated with unusual coexistence of gross molluscum contagiosum and epidermodysplasia verruciformis in a DOCK8 deficiency patient. 2017

Y-Q Liu, and G-L Zhang, and X-H Mo, and B Wang, and F Wu, and J Chen, and H Luo, and L-D Zhu, and M-Y Xu, and Q Zhou, and Q-L Cai, and X-L Wang
Department of Pathology, Central Laboratory, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai, China.

UI MeSH Term Description Entries
D008297 Male Males
D008976 Molluscum Contagiosum A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (MOLLUSCUM CONTAGIOSUM VIRUS). (Dorland, 27th ed)
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D004819 Epidermodysplasia Verruciformis An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales. Lewandowsky-Lutz Disease,Lutz-Lewandowsky Disease,Disease, Lewandowsky-Lutz,Disease, Lutz-Lewandowsky,Lewandowsky Lutz Disease,Lutz Lewandowsky Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D020662 Guanine Nucleotide Exchange Factors Protein factors that promote the exchange of GTP for GDP bound to GTP-BINDING PROTEINS. GDP Exchange Factors,GDP-GTP Reversing Factors,Guanine Nucleotide Releasing Factors,GDP Dissociation Factor,GDP Dissociation Stimulators,GDP-GTP Exchange Protein,Guanine Nucleotide Exchange Factor,Guanine-Nucleotide-Releasing Factor,Exchange Factors, GDP,Factors, GDP Exchange,Factors, GDP-GTP Reversing,GDP GTP Exchange Protein,GDP GTP Reversing Factors,Guanine Nucleotide Releasing Factor,Reversing Factors, GDP-GTP

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