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.