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. 2022 May;42(4):885-888.
doi: 10.1007/s10875-022-01240-6. Epub 2022 Mar 14.

A Novel Kindred with MyD88 Deficiency

Giorgia Bucciol  1   2 , Leen Moens  1 , Anniek Corveleyn  3 , Alexandra Dreesman  4 , Isabelle Meyts  5   6
Affiliations

A Novel Kindred with MyD88 Deficiency

Giorgia Bucciol et al. J Clin Immunol. 2022 May.
No abstract available

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Conflict of interest statement

IM receives the CSL-Behring Chair of Primary Immunodeficiencies in Children, paid to Institution.

Figures

Fig. 1
Fig. 1
A Family tree showing consanguinity in the II generation on the paternal side. Squares indicate males, circles females, and rhombuses unknown gender. Fully shadowed symbols represent homozygosity for the MyD88 mutation E66del, half-shadowed symbols heterozygosity. The index patient is indicated with an arrow. Remarkable family history: (a) died of meningitis, (b) died of pneumonia, (c) suffered from meningitis aged 4 months, (d) died from fulminant meningitis, (e) died from vasculitis, (f) suffered from meningitis. B Chest X-ray of the patient at the age of 3 years showing bilateral lung infiltrates during Coronavirus NL63 and Influenza A virus pneumonia. C Production of IL-8 is impaired in the patient’s cells after 24-h stimulation with several TLR ligands. Basal levels from the unstimulated condition have been subtracted from the represent results. Pam3CSK4: TLR1/2 agonist; heat-inactivated S. pneumoniae: TLR2 agonist; LPS: lipopolysaccharide, TLR4 agonist; R848: resiquimod, TLR7/8 agonist; IL-1β: IL-1R ligand; poly I:C: TLR3 agonist
See this image and copyright information in PMC

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