Table 1.

Clinical features of patients with SASH3 mutations

	P1	P2	P3	P4
Age at first symptoms	3 y	5 y	2 y	Not known
Infections	Recurrent pulmonary infections, skin/soft tissue infections, warts	Recurrent sinopulmonary infections, Escherichia coli sepsis	Recurrent sinopulmonary infections, dental abscesses, sepsis, and skin infections; Candida esophagitis; warts	JC virus progressive multifocal leukoencephalopathy, bacterial meningitis (2 episodes), septic arthritis, sepsis, recurrent sinopulmonary infections, varicella-zoster virus, warts
Hematology	Neutropenia, chronic thrombocytopenia, T-cell large granular lymphocyte (clonal CD8+CD57+ cells) proliferation	Autoimmune hemolytic anemia, immune-mediated thrombocytopenia, autoimmune neutropenia, splenomegaly, CD8+CD57+ large granular lymphocyte T cells in bone marrow	Autoimmune hemolytic anemia, immune-mediated thrombocytopenia, autoimmune neutropenia	Immune-mediated thrombocytopenia, autoimmune hemolytic anemia, leukopenia, CD8+CD57+ large granular lymphocyte T cells in bone marrow
Neurology			Brain volume loss, seizures (end of life)	JC virus progressive multifocal leukoencephalopathy
Cardiovascular			Episodic bradycardia
Pulmonary			Bronchiectasis, granulomatous nodules
Endocrine		Hypothyroidism	Hypothyroidism, hypophosphatemia
Gastrointestinal tract/liver		Hepatomegaly, suspected nodular regenerative hyperplasia	Enteropathy, nodular regenerative hyperplasia/hepatomegaly, liver granulomas
Skin and mucous membranes	Aphthous ulcers		Granulomatous skin lesions, aphthous ulcers	Granulomatous skin lesions