Differentials
leukocyte adhesion deficiency type I
SIGNS / SYMPTOMS
Classically, patients present in infancy with delayed separation of the umbilical cord, serious recurrent bacterial illness (typically of mucosa and skin), no pus formation, and poor wound healing.[1]
INVESTIGATIONS
Flow cytometric analysis of neutrophils shows a lack of CD18 expression.
glucose-6-phosphate dehydrogenase deficiency
myeloperoxidase deficiency
SIGNS / SYMPTOMS
Typically only clinically apparent with concurrent diabetes; these patients tend to have infections with Candida species.[1][56]
INVESTIGATIONS
CGD is usually excluded based on a normal DHR test.
Of note, complete absence of myeloperoxidase activity can lead to decreased DHR histogram shift within neutrophils.[57]
Lack of myeloperoxidase can be documented by direct staining of neutrophil intracellular myeloperoxidase and analysis by flow cytometry.[57]
rac2 deficiency
SIGNS / SYMPTOMS
Occurs in a young child with recurrent life-threatening infections associated with leukocytosis and poor pus formation in tissues.
Another prominent feature is delayed umbilical cord separation.
INVESTIGATIONS
Genetic sequencing shows changes consistent with rac2 deficiency.
Crohn's disease
SIGNS / SYMPTOMS
Patients may display gastrointestinal (GI) bleeding, prolonged diarrhoea with abdominal pain, fistulae between the GI, genitourinary, and vaginal walls, and perianal skin tags.
INVESTIGATIONS
Nitroblue tetrazolium test/dihydrorhodamine (DHR) 123 test are normal. Features at colonoscopy and in biopsy samples are not differentiating.
Use of this content is subject to our disclaimer