A novel non-coding mutation in C1q that causes C1q deficiency associated with recurrent infections

Immunobiology ◽  
2012 ◽  
Vol 217 (11) ◽  
pp. 1132
Author(s):  
Leendert Trouw ◽  
Joris Schonkeren ◽  
Nina Daha ◽  
Nivine Levarht ◽  
Anja Roos ◽  
...  
Keyword(s):  
Recurrent Infections ◽  
C1q Deficiency

Rashes in paediatric rheumatology

2018 ◽  
Author(s):  
Brogan Foster ◽  
Paul A. Brogan
Keyword(s):  
Kawasaki Disease ◽  
Connective Tissue ◽  
Erythema Nodosum ◽  
Haemophagocytic Lymphohistiocytosis ◽  
Cutaneous Manifestations ◽  
Cutaneous Necrosis ◽  
Systemic Jia ◽  
Periorbital Oedema ◽  
Colour Plate ◽  
C1q Deficiency

This chapter provides colour plate images of important cutaneous manifestations of autoimmune and autoinflammatory diseases of the young. Images provided are: the evanescent rash of systemic JIA; palmar psoriasis, nail pitting, and typical rash associated with psoriatic JIA; HSP; JDM (periorbital oedema, shawl sign, Gottron’s papules); periungual erythema associated with mixed connective tissue disease; livedo reticularis and cutaneous necrosis associated with medium vessel vasculitis; EBV driven haemophagocytic lymphohistiocytosis; erythema nodosum; Kawasaki disease; and C1q deficiency.

Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies

1998 ◽  
Vol 19 (1) ◽  
pp. 56-59 ◽  
Author(s):  
Marina Botto ◽  
Chiara Dell' Agnola ◽  
Anne E. Bygrave ◽  
E. Mary Thompson ◽  
H. Terence Cook ◽  
...  
Keyword(s):  
Apoptotic Bodies ◽  
C1q Deficiency

scholarly journals Molecular basis of hereditary C1q deficiency-revisited: Identification of several novel disease causing mutations

2011 ◽  
Vol 48 (14) ◽  
pp. 1723 ◽  
Author(s):  
L. Schejbel ◽  
L. Skattum ◽  
S. Hagelberg ◽  
A. Åhlin ◽  
S. Berg ◽  
...  
Keyword(s):  
Molecular Basis ◽  
C1q Deficiency

scholarly journals A51: C1q Deficiency and Autoimmunity-A Single Centre Experience

2014 ◽  
Vol 66 ◽  
pp. S76-S76 ◽  
Author(s):  
Elena Moraitis ◽  
Despina Eleftheriou ◽  
Catherine Cale ◽  
Clarissa Pilkington ◽  
Paul Brogan
Keyword(s):  
Single Centre ◽  
Single Centre Experience ◽  
C1q Deficiency

C1q inhibits immune complex induced IFN-alpha production in plasmacytoid dendritic cells—A novel link between C1q deficiency and SLE pathogenesis

2009 ◽  
Vol 46 (14) ◽  
pp. 2857
Author(s):  
Christian Lood ◽  
Birgitta Gullstrand ◽  
Lennart Truedsson ◽  
Anders I. Olin ◽  
Gunnar V. Alm ◽  
...  
Keyword(s):  
Dendritic Cells ◽  
Immune Complex ◽  
Plasmacytoid Dendritic Cells ◽  
Ifn Alpha ◽  
Alpha Production ◽  
C1q Deficiency

scholarly journals C1q Deficiency and Autoimmunity: The Effects of Genetic Background on Disease Expression

2002 ◽  
Vol 168 (5) ◽  
pp. 2538-2543 ◽  
Author(s):  
Daniel A. Mitchell ◽  
Matthew C. Pickering ◽  
Joanna Warren ◽  
Liliane Fossati-Jimack ◽  
Josefina Cortes-Hernandez ◽  
...  
Keyword(s):  
Genetic Background ◽  
Disease Expression ◽  
C1q Deficiency
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