Journal
CLINICAL IMMUNOLOGY
Volume 208, Issue -, Pages -Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2019.06.004
Keywords
Immunodeficiency; Epidermolysis bullosa; CARMIL2; Plectin; Whole exome sequencing; RLTPR
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Funding
- German Federal Ministry of Education and Research [BMBF 01E01303]
- E-RARE EuroCID program
- Berta-Ottenstein-Programme for Clinician Scientists, Faculty of Medicine, University of Freiburg
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This study reports a patient with severe skin disease in the context of profound immunodeficiency explained by two concomitant genetic diseases caused by two novel homozygous loss-of-function mutations in PLEC1 and CARMIL2. The work provides additional information on the clinical and immunological manifestations of CARMIL2 deficiency and highlights the particular diagnostic and therapeutic challenge represented by the concomitant presence of two rare monogenic disorders.
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