Entry |
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Name |
Other phagocyte defects |
Subgroup |
Chediak-Higashi syndrome [DS: H02021] Griscelli syndrome [DS: H02022] Neutrophil specific granule deficiency [DS: H02024] Myeloperoxidase deficiency [DS: H02025] Glucose 6-phosphate dehydrogenase deficiency [DS: H01375] Shwachman-Diamond syndrome [DS: H00439] |
Supergrp |
Disorders of innate immunity [DS: H02525] Primary immunodeficiency disease [DS: H01725] |
Description |
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations throughout the CHS1/LYST gene. Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. GS is characterized by partial albinism, hepatosplenomegaly, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia. Abnormal-beta-actin disease accompanies neutrophil chemotactic dysfunction. Neutrophil specific granule deficiency is a rare disorder of neutrophil function characterized by a lack of neutrophil secondary granule proteins and associated with recurrent bacterial infections. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (C/EBP) epsilon. Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosomally transmitted disorder. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Shwachman-Diamond syndrome (SDS) is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. The only gene known to be associated with SDS is SBDS, which encodes a ribosome maturation protein.
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Category |
Primary immunodeficiency
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Other DBs |
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Reference |
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Authors |
Lim MS, Elenitoba-Johnson KS. |
Title |
The molecular pathology of primary immunodeficiencies. |
Journal |
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Reference |
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Authors |
Etzioni A |
Title |
Novel aspects of phagocytic cell disorders. |
Journal |
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Reference |
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Authors |
Dinauer MC, Lekstrom-Himes JA, Dale DC |
Title |
Inherited Neutrophil Disorders: Molecular Basis and New Therapies. |
Journal |
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Reference |
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Authors |
Kumar A, Teuber SS, Gershwin ME. |
Title |
Current perspectives on primary immunodeficiency diseases. |
Journal |
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Reference |
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Authors |
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J. |
Title |
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. |
Journal |
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