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Autoimmune lymphoproliferative syndrome 5

Autoimmune lymphoproliferative syndrome 5 is an autosomal dominant disorder caused by mutations of the CTLA4 gene.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
Aplastic anemia
Autoimmune lymphoproliferative syndrome 5
CTLA4
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disorders of cobalamin metabolism
Familial erythrocytosis 2
Familial hemophagocytic lymphohistiocytosis
H syndrome
Hereditary bleeding disorders
Hereditary malign blood disorders
Inheritable platelet disorders
MIRAGE syndrome
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency

References:

1.

Waterhouse P et al. (1995) Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4.

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2.

Kuehn HS et al. (2014) Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.

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3.

Schubert D et al. (2014) Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

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Update: Aug. 14, 2020
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