Table 1 Clinical phenotype of affected individuals.

HLH, hemophagocytic lymphohistiocytosis; EEG, electroencephalogram.

Clinical featureProband (II:3)Sibling (II:4)
Premature birthYesYes
Neonatal thrombocytopeniaYesNo
Apnea requiring respiratory supportYesYes
SeizuresYesAbnormal EEG
Developmental delayYesYes
White matter changesYesYes
Intracranial calcificationYesYes
Intracerebral hemorrhageYesYes
Cerebellar hypoplasiaNoYes
Sterile feversYesNo
HLH-like inflammationYesNo
HyperferritinemiaYesBorderline
HypertensionYesBorderline
Acute kidney injuryYesNo
ProteinuriaYesYes
TMAYesPossible
Elevated D-dimersYesYes
High ISG scoreYesYes
Age at death20 months3 months