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neutropenia

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Since there was an abnormal number of neutrophils from birth, severe congenital neutropenia was considered primarily and acquired neutropenic cases and cyclic neutropenia were excluded.

Neutropenic Fever in a Two-and-a-Half Month Old Girl: Severe Congenital Neutropenia

In differential diagnosis, although there are periodic febrile illnesses such as cyclic neutropenia, familial mediterranean fever, Hyperimmunoglobulin D syndrome, the genetic basis of these diseases has been demonstrated and their findings are unique (10).

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome: Current Literature Review with a Case Report/Periyodik Ates Aftoz Stomotit, Farenjit ve Servikal Adenit Sendromu: Bir Olgu Nedeniyle Guncel Literaturun Gozden Gecirilmesi

Cyclic neutropenia (CyN) is a rare stem cell disorder with a prevalence of one to two per million [1].

Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events

[2] In our patient, a differential diagnosis of (i) cyclic neutropenia, (ii) chronic congenital neutropenia, (iii) chronic idiopathic neutropenia and (iv) Schwachman-Diamond syndrome (exocrine pancreatic insufficiency with neutropenia) was considered.

Too much diarrhoea, too many infections, and too few neutrophils

Another view is that there may be underlying hypogammaglubulinemia, cyclic neutropenia or neutrophil dysfunction in healthy children who develop pseudomonas sepsis (1, 3, 7).

A case of perineal ecthyma gangrenosum

Among stereotypical recurrent fevers, irregular episodes likely indicate a monogenic fever syndrome, while more predictable episodes could be cyclic neutropenia or PFAPA.

History key to determining what causes a fever

She presented with PNDM and cyclic neutropenia at six-weeks of age.

Novel mutation in Wolcott-Rallison syndrome with variable expression in two Omani siblings

More than 50% of patients with congenital severe neutropenia and nearly all patients with cyclic neutropenia harbour mutations in the ELANE gene encoding for the neutrophil elastase (NE), a broad-specificity serine protease localized in azurophil granules [82-84].

Congenital defects in neutrophil dynamics