Table 1. Features of patients sharing... | Rockefeller University Press

Table 1.

Features of patients sharing the de novo missense CDC42 c.556C>T (p.R186C) mutation

	Pt 1	Pt 2	Pt 3	Pt 4
Outcome and status	Alive, 6 yr	Dead, 6 mo	Dead, 1.5 yr	Dead, 4.5 mo
Fever	+	+	+	+
Skin rash	+	+	+	+
Facial dysmorphism	−	−	−	−
Failure to thrive	+	+	+	+
Hepatomegaly	+	+	+	+
Splenomegaly	+	+	+	−
CNS inflammatory disease^{^a}	+	−	−	−
Gastrointestinal symptoms^{^b}	+	+	+	+
Cardiac abnormalities	−	−	−	−
HLH^{^c}	+	+	+	+
Anemia^{^d}	+	+	+	+
Thrombocytopenia^{^d}	+	+	+	+
Neutropenia^{^e}	+	+	+	+
Monocytopenia	+	+	N/A	N/A
Acute-phase response	+	+	+	+
BM dysplasia	+	+	+	+
Other notable features	+^{^f}	−	−	+^{^g}

	Pt 1	Pt 2	Pt 3	Pt 4
Outcome and status	Alive, 6 yr	Dead, 6 mo	Dead, 1.5 yr	Dead, 4.5 mo
Fever	+	+	+	+
Skin rash	+	+	+	+
Facial dysmorphism	−	−	−	−
Failure to thrive	+	+	+	+
Hepatomegaly	+	+	+	+
Splenomegaly	+	+	+	−
CNS inflammatory disease^{^a}	+	−	−	−
Gastrointestinal symptoms^{^b}	+	+	+	+
Cardiac abnormalities	−	−	−	−
HLH^{^c}	+	+	+	+
Anemia^{^d}	+	+	+	+
Thrombocytopenia^{^d}	+	+	+	+
Neutropenia^{^e}	+	+	+	+
Monocytopenia	+	+	N/A	N/A
Acute-phase response	+	+	+	+
BM dysplasia	+	+	+	+
Other notable features	+^{^f}	−	−	+^{^g}

CNS, central nervous system; N/A, not applicable.

Pt 1, three episodes at age 2 yr with generalized seizures and white and gray matter lesions in MRI; Pt 3, increased CSF protein and MRI with leptomeningitis.

Pt 1, diarrhea, intestinal bleeding at age 11 mo, and intestinal infarction at age 5 yr; Pt 2, chronic diarrhea; Pt 3, small intestine inflammation; Pt 4, severe, unremitting enterocolitis from birth and diarrhea with intestinal bleedings and infarctions.

Pt 1, four episodes; Pt 2, a single episode leading to death; Pt 3, died of secondary HLH after transplant; Pt 4, four episodes.

Pt 1, constant transfusion requirement until age 2 yr; Pt 2, intermittent transfusion requirement during flares; Pt 3, transfusion dependent; Pt 4, transfusion dependent.

Pt 1, Pt 2, and Pt 3, profound neutropenia; Pt 4, mild neutropenia.

Suspected trigonocephaly.

Very small thymus; arthritis.

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