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Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies
Author(s) -
Quaio Caio R.D.C.,
Carvalho Jozélio F.,
da Silva Clovis A.,
Bueno Cleonice,
Brasil Amanda S.,
Pereira Alexandre C.,
Jorge Alexander A.L.,
Malaquias Alexsandra C.,
Kim Chong A.,
Bertola Débora R.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35290
Subject(s) - medicine , autoantibody , autoimmune hepatitis , immunology , autoimmune thyroiditis , thyroiditis , autoimmunity , antibody , hepatitis , thyroid
The association of RASopathies [Noonan syndrome (NS) and Noonan‐related syndromes] and autoimmune disorders has been reported sporadically. However, a concomitant evaluation of autoimmune diseases and an assessment of multiple autoantibodies in a large population of patients with molecularly confirmed RASopathy have not been performed. The clinical and laboratory features were analyzed in 42 RASopathy patients, the majority of whom had NS and five individuals had Noonan‐related disorders. The following autoantibodies were measured: Anti‐nuclear antibodies, anti‐double stranded DNA, anti‐SS‐A/Ro, anti‐SS‐B/La, anti‐Sm, anti‐RNP, anti‐Scl‐70, anti‐Jo‐1, anti‐ribosomal P, IgG and IgM anticardiolipin (aCL), thyroid, anti‐smooth muscle, anti‐endomysial (AE), anti‐liver cytosolic protein type 1 (LC1), anti‐parietal cell (APC), anti‐mitochondrial (AM) antibodies, anti‐liver‐kidney microsome type 1 antibodies (LKM‐1), and lupus anticoagulant. Six patients (14%) fulfilled the clinical criteria for autoimmune diseases [systemic lupus erythematous, polyendocrinopathy (autoimmune thyroiditis and celiac disease), primary antiphospholipid syndrome (PAPS), autoimmune hepatitis, vitiligo, and autoimmune thyroiditis]. Autoimmune antibodies were observed in 52% of the patients. Remarkably, three (7%) of the patients had specific gastrointestinal and liver autoantibodies without clinical findings. Autoimmune diseases and autoantibodies were frequently present in patients with RASopathies. Until a final conclusion of the real incidence of autoimmunity in Rasopathy is drawn, the physicians should be alerted to the possibility of this association and the need for a fast diagnosis, proper referral to a specialist and ultimately, adequate treatment. © 2012 Wiley Periodicals, Inc.