Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome.

Frans, Glynis

Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome. [electronic resource] - American journal of medical genetics. Part A Mar 2016 - 801-3 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.37499 doi


Abnormalities, Multiple--diagnosis
Alleles
Complement System Proteins--immunology
Face--abnormalities
Gene Frequency
Genetic Diseases, X-Linked--diagnosis
Hematologic Diseases--diagnosis
Hemizygote
Histone Demethylases--genetics
Humans
Immunity, Humoral
Immunoglobulin Isotypes--blood
Infant
Lymphocyte Activation--immunology
Lymphocyte Subsets--immunology
Male
Mutation
Nuclear Proteins--genetics
Transmembrane Activator and CAML Interactor Protein--genetics
Vestibular Diseases--diagnosis