Classical and non-classical presentations of complement factor I deficiency: two contrasting cases diagnosed via genetic and genomic methods

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Classical and non-classical presentations of complement factor I deficiency : two contrasting cases diagnosed via genetic and genomic methods. / Shields, Adrian M; Pagnamenta, Alistair T; Pollard, Andrew J; OxClinWGS; Taylor, Jenny C; Allroggen, Holger; Patel, Smita Y.

In: Frontiers in immunology, Vol. 10, 1150, 07.06.2019.

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Shields, Adrian M ; Pagnamenta, Alistair T ; Pollard, Andrew J ; OxClinWGS ; Taylor, Jenny C ; Allroggen, Holger ; Patel, Smita Y. / Classical and non-classical presentations of complement factor I deficiency : two contrasting cases diagnosed via genetic and genomic methods. In: Frontiers in immunology. 2019 ; Vol. 10.

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@article{fb72b5daf384435abf78839ba370ffeb,
title = "Classical and non-classical presentations of complement factor I deficiency: two contrasting cases diagnosed via genetic and genomic methods",
abstract = "Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections. However, non-infectious presentations including rheumatological, dermatological and neurological disease are increasingly recognized and require a high-index of suspicion to reach a timely diagnosis. Herein, we present two contrasting cases of complement factor I deficiency: one presenting in childhood with invasive pneumococcal disease, diagnosed using conventional immunoassays and genetics and the second presenting in adolescence with recurrent sterile neuroinflammation, diagnosed via a genomic approach. Our report and review of the literature highlight the wide spectrum of clinical presentations associated with CFI deficiency and the power of genomic medicine to inform rare disease diagnoses.",
keywords = "complement deficiency, complement factor I, genomic medicine, neuroinflammation, pneumococcal infection, primary immunodeficiency, Complement factor I, Genomic medicine, Complement deficiency, Neuroinflammation, Pneumococcal infection, Primary immunodeficiency",
author = "Shields, {Adrian M} and Pagnamenta, {Alistair T} and Pollard, {Andrew J} and OxClinWGS and Taylor, {Jenny C} and Holger Allroggen and Patel, {Smita Y}",
year = "2019",
month = jun,
day = "7",
doi = "10.3389/fimmu.2019.01150",
language = "English",
volume = "10",
journal = "Frontiers in immunology",
issn = "1664-3224",
publisher = "Frontiers",

}

RIS

TY - JOUR

T1 - Classical and non-classical presentations of complement factor I deficiency

T2 - two contrasting cases diagnosed via genetic and genomic methods

AU - Shields, Adrian M

AU - Pagnamenta, Alistair T

AU - Pollard, Andrew J

AU - OxClinWGS

AU - Taylor, Jenny C

AU - Allroggen, Holger

AU - Patel, Smita Y

PY - 2019/6/7

Y1 - 2019/6/7

N2 - Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections. However, non-infectious presentations including rheumatological, dermatological and neurological disease are increasingly recognized and require a high-index of suspicion to reach a timely diagnosis. Herein, we present two contrasting cases of complement factor I deficiency: one presenting in childhood with invasive pneumococcal disease, diagnosed using conventional immunoassays and genetics and the second presenting in adolescence with recurrent sterile neuroinflammation, diagnosed via a genomic approach. Our report and review of the literature highlight the wide spectrum of clinical presentations associated with CFI deficiency and the power of genomic medicine to inform rare disease diagnoses.

AB - Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections. However, non-infectious presentations including rheumatological, dermatological and neurological disease are increasingly recognized and require a high-index of suspicion to reach a timely diagnosis. Herein, we present two contrasting cases of complement factor I deficiency: one presenting in childhood with invasive pneumococcal disease, diagnosed using conventional immunoassays and genetics and the second presenting in adolescence with recurrent sterile neuroinflammation, diagnosed via a genomic approach. Our report and review of the literature highlight the wide spectrum of clinical presentations associated with CFI deficiency and the power of genomic medicine to inform rare disease diagnoses.

KW - complement deficiency

KW - complement factor I

KW - genomic medicine

KW - neuroinflammation

KW - pneumococcal infection

KW - primary immunodeficiency

KW - Complement factor I

KW - Genomic medicine

KW - Complement deficiency

KW - Neuroinflammation

KW - Pneumococcal infection

KW - Primary immunodeficiency

UR - http://www.scopus.com/inward/record.url?scp=85068561027&partnerID=8YFLogxK

U2 - 10.3389/fimmu.2019.01150

DO - 10.3389/fimmu.2019.01150

M3 - Article

C2 - 31231365

VL - 10

JO - Frontiers in immunology

JF - Frontiers in immunology

SN - 1664-3224

M1 - 1150

ER -