Genetics
Genetic analyses were completed for 7 of 9
cases. One patient was known to
have Trisomy 21, and another patient had a known diagnosis of Kabuki
syndrome. Analyses for 2 cases
revealed variants of uncertain significance (VUS) associated with
hemophagocytic lymphocytic histiocytosis (HLH). One VUS for primary
ciliary dyskinesia (PCD) was identified in one patient. For this
patient, bronchoscopy and ciliary brushing was completed with results
being inconsistent with PCD. One VUS for PLCG2-associated Antibody
Deficiency and Immune Dysregulation syndrome/APLAID/FCA3 immune
dysfunction syndrome was also identified.