Kabuki Syndrome with T Cell Dysfunction
Sunday, March 6, 2016
South Exhibit Hall H (Convention Center)
Osman C. Dokmeci, MD
Rationale: Kabuki syndrome (KS) is a rare multiple malformation disorder with dysmorphic features, intellectual disability, autoimmunity and humoral immunodeficiency.  T cell dysfunction is unreported. We present a 19-year-old male with recurrent viral pneumonias, cutaneous candidiasis, abnormal proliferation response to mitogens and absent candida antigen response.

Methods: Mitogen studies to PHA, Con A, Pokeweed mitogen, Tetanus and Candida antigens, conducted at Duke clinical immunology laboratory.

Results: 19 year old male with long down slanting palpebral fissures, low set prominent ears, scoliosis, ASD, speech and hearing problems, hypospadias, bacterial and viral sino-pulmonary infections, cutaneous candidiasis, UTIs, non healing gum disease. IgG <7mg/dL, IgM <4mg/dL, IgA <6mg/dL, Diphteria IgG Ab <0.01 IU/mL, Tetanus IgG Ab <0.01 IU/mL, non-responsive to 23-Pneumococcal serotypes, B-cell lymphopenia (CD19+ 69 cells/mcL), absence of class-switched memory B-cells (CD27+M-D-), profoundly decreased plasmablasts (CD38+ IgM- 0.2 cells/mcL) increased CD21- B cell proportion (39%), CD21+ B cells showing CD21dim phenotype. PHA 179.442 BKR control vs 16.919 BKR patient, Con A 140.545 BKR control vs 21.196 BKR patient, PWM 128.798 BKR control vs 29.600 BKR patient, tetanus 18.172 BKR control vs 10.443 BKR patient, Candida 3.378 BKR control vs 810 BKR patient.

Conclusions: KS is well known to be associated with autoimmunity and humoral immunodeficiency. Our patient is the first to be reported with features of T cell dysfunction to our knowledge. Patients with KS should be assessed for their T cell function if their clinical presentation is suggestive.