ARPC1B deficiency results in defective Arp2/3 actin filament branching and is associated with heterogeneous systemic disease. Here, we present the first case of ARPC1B deficiency in Algeria.
Data was collected from the patient's file during hospitalization in our pediatrics department. To elucidate the genetic etiology, whole exome sequencing has been conducted.
We reported 10-year-old boy from the Northwest of Algeria who was born as second child of consanguineous parents and admitted for a severe, refractory inflammatory bowel disease. The patient presented with early onset chronic diarrhea at the age of 2 months, failure to thrive, and recurrent invasive infections such as pneumonia and otitis media. Physical examination at admission revealed superficial vasculitis in both lower limbs .
Laboratory work up showed thrombocytopenia and signs of combined immune dysregulation, including elevated IgA level, T cell lymphopenia, and reduced numbers of naïve T cells. Colonoscopy depicted a severe colitis reminiscent of UC.
A genetic screen revealed a homozygous mutation of the ARPC1B gene . Clinical management included treatment with corticosteroids and prophylactic antibiotics for this particular immune deficiency were initiated, along with a dedicated follow-up .this patient repsonded to treatment
Our study undescored that ARPC1B deficiency should be considered among the panel of primary immunodeficiencies in young patients with very early onset inflammatory bowel disease .