Neutropenia in Primary Immunodeficiency Diseases / / Neslihan Edeer Karaca.

• VerfasserIn: Karaca, Neslihan Edeer,
• Place / Publishing House: London : : IntechOpen,, 2021.
• Year of Publication: 2021
• Language: English
• Physical Description: 1 online resource (142 pages)

Phagocytes including neutrophil granulocytes and macrophages are important cells of the innate immune system whose primary function is to ingest and destroy microorganisms. Neutrophils help their host fight infections by phagocytosis, degranulation, and neutrophil extracellular traps. Neutrophils are the most common type of circulating white blood cells and the principal cell type in acute inflammatory reactions. A total absence of neutrophils or a significant decrease in their number leads to severe immunodeficiency that renders patients vulnerable to recurrent infections by Staphylococcus aureus and Gram-negative bacteria being the most life-threatening. Neutropenia may be classified as mild, moderate or severe in terms of numbers in the peripheral blood, and intermittent, cyclic, or chronic in terms of duration. Besides well-known classic severe congenital neutropenia, chronic neutropenia appears to be associated with an increasing number of primary immunodeficiency diseases (PIDs), including those of myeloid and lymphoid lineage. A comprehensive overview of the diverse clinical presenting symptoms, classification, aetiological and genetic etiologies of chronic isolated and syndromic neutropenia is aimed to be reviewed.

Table of Contents

1. Introduction -- 1.1 Primary genetic defects of severe congenital neutropenia -- 1.2 Disorders of molecular processing -- 1.2.1 Shwachmann-Diamond syndrome -- 1.2.2 Dyskeratosis congenita -- 1.3 Disorders of metabolism -- 1.3.1 Glycogen storage disease type Ib -- 1.3.2 Barth syndrome -- 1.3.3 Pearson syndrome -- 1.4 Vesicular trafficking disorders -- 1.4.1 Chediak-Higashi syndrome -- 1.4.2 Griscelli syndrome type 2 -- 1.4.3 Hermansky-Pudlac syndrome type 2 -- 1.4.4 P14 deficiency -- 1.4.5 Cohen syndrome -- 1.4.6 VPS45 deficiency -- 1.5 Well-known primary immunodeficiency diseases associated with neutropenia -- 1.5.1 Bruton's disease -- 1.5.2 CD40LG deficiency (Hyper IgM syndrome type I) -- 1.5.3 Severe combined immunodeficiency -- 1.5.4 Wiskott Aldrich syndrome -- 1.5.5 WHIM syndrome -- 1.5.6 Cartilage-hair hypoplasia -- 1.5.7 STK4/MST1 deficiency -- 1.5.8 GATA2 deficiency -- 2. Diagnostic work-up in chronic neutropenia -- 3. Treatment and follow-up -- 4. Conclusion -- References.