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 |
| . | 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 |