There are several categories of genetic neutropenia, including congenital neutropenia
, also called Kostmann syndrome; cyclic neutropenia; and autoimmune neutropenia.
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.
Sixty-two percent of the patients had chronic diseases including most commonly neurologic diseases [epilepsy (7%), cerebral palsy (5%), neuromotor retardation (4%)], metabolic disease (14%), asthma (10%), chronic renal failure (6%), chronic liver disease (5%), congenital heart disease (4%), malignancy (3%), diabetes mellitus type 1 (1%), familial Mediteranean fever (1%), juvenile idiopathic arthritis (1%), and congenital neutropenia
The initial focus of the work will be on phagocyte deficiencies such as congenital neutropenia
syndromes, for which we have very recently identified two novel genetic defects.
There have been six cases of IPT diagnosed in patients after haematopoietic stem cell transplant (SCT) and one case of hepatic IPT in a pediatric patient before SCT with severe congenital neutropenia
ELANE-related neutropenia includes congenital neutropenia
and cyclic neutropenia, both of which are primary haematologic disorders.
A team of scientists has discovered a new syndrome associated with severe congenital neutropenia
(SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3).
Recently, major advances have occurred in the field of molecular genetics concerning congenital neutropenia
(CN) that will be addressed in this review.
Nine-year-old Ayeesha - who is shortlisted in the Young Personality category - has a bleeding disorder called Von Willebrand's Disease and also congenital neutropenia
Little Keira Quigley was diagnosed with congenital neutropenia
at just two-months-old after she had suffered more infections than was usual for a tot so young.
are usually diagnosed by acute and life- threatening invasive bacterial and fungal infections.
Severe congenital neutropenia
(SCN) is a rare hereditary immunodeficiency disease.