Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
ARPC1B deficiency syndrome
Other Resources UpToDate PubMed

ARPC1B deficiency syndrome

Contributors: Ruth Wang PhD, Susan Burgin MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Synopsis

ARPC1B deficiency syndrome is a rare condition characterized by combined immune deficiency, recurrent infections, allergies, asthma, and autoinflammation. It is also known as platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (PTLEID) or immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71). ARPC1B deficiency syndrome is attributed to mutations in the gene encoding actin-related protein 2/3 complex subunit 1B (ARPC1B), a member of the Arp2/3 complex and essential for driving the dynamics of the actin cytoskeleton. These mutations disrupt protein structure and cause impaired T-cell and neutrophil migration and proliferation, altered immunologic synapses formation, defective regulatory T cell (Treg) function, increased levels of immunoglobulin E (IgE) and immunoglobulin A (IgA), and thrombocytopenia. ARPC1B is the only ARPC1 isoform found in hematopoietic cells, whereas other tissue types express both ARPC1B and the other isoform ARPC1A, which may explain the predominant immunologic and hematologic manifestations. The inheritance pattern is autosomal homozygous recessive with variable penetrance.

Only a few individuals have been diagnosed with the ARPC1B deficiency syndrome worldwide, and the exact mechanisms and full spectrum of disease severity remains unclear. Clinical onset of disease is very early with a mean of 2 months of age. Both sexes are affected equally.

Codes

ICD10CM:
D84.9 – Immunodeficiency, unspecified

SNOMEDCT:
36138009 – Congenital immunodeficiency disease

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:08/15/2022
Last Updated:09/13/2022
Copyright © 2022 VisualDx®. All rights reserved.
ARPC1B deficiency syndrome
Print  
A medical illustration showing key findings of ARPC1B deficiency syndrome
Copyright © 2022 VisualDx®. All rights reserved.