1. Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations 
Dimitra Kiritsi, MD, Manthoula Valari, MD, Paola Fortugno, PhD, Ingrid Hausser, PhD, Lilia Lykopoulou, MD, Giovanna Zambruno, MD, Judith Fischer, MD, PhD, Leena Bruckner-Tuderman, MD, Thilo Jakob, MD, Cristina Has, MD 
Journal of Allergy and Clinical Immunology 
Volume 135, Issue 1, Pages e15 (January 2015)
DOI: /j.jaci
Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2. Fig 1
A and B, Clinical pictures of the patient at ages 8 and 12 years, respectively. Note the pronounced erythema and scaling on the back of the patient in Fig 1, A, and only minor features in Fig 1, B, reflecting the variable course of the disease. C, Note the eczematous reaction after contact with cat dander but not after contact with petroleum jelly or dog dander. Slight scaling of the skin is due to ichthyosis. D, The back of the patient before atopy patch testing and 2 weeks later. Note the striking exacerbation of erythema and scaling. E, Hematoxylin and eosin staining of the patient's skin sections showed acanthosis, hyperkeratosis and parakeratosis, and a mild inflammatory infiltrate.
Journal of Allergy and Clinical Immunology  , e15DOI: ( /j.jaci )
Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3. Fig 2
A, Partial sequences of the patient. Genes, exons, and codons with mutations are indicated. Minor sequence variants and amino acid substitutions are marked in red. B, Family pedigree and variants present in each family member are shown. C and D, Immunostaining for LEKTI (Fig 2, C) and filaggrin (Fig 2, D). In Fig 2, D, sections were double stained for desmoplakin (red) to indicate the architecture of the epidermis. E, In situ zymographies of skin sections from a healthy subject homozygous for the LEKTI variant p.E420K, the index patient, and a patient with NS are shown. Activity is indicated by the color scale from black (0) to white (255). F, Immunoblot analysis of intracellular (left) and secreted (right) LEKTI protein in keratinocytes from control subjects (Co) and patient (Pt). The bands represent proteolytic fragments of LEKTI. Note the reduction of LEKTI and especially of the 37-kDa D6D9 fragment (red arrow) in the patient. Equal loading is shown by using glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and Ponceau staining. G, Quantitative real-time PCR with RNA extracted from keratinocytes of the patient (Pt) and control subject (Co) after in vitro differentiation shows strong reduction of SPINK5 and FLG mRNA levels in the patient.
Journal of Allergy and Clinical Immunology  , e15DOI: ( /j.jaci )
Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4. Fig E1
A, Transmission electron microscopic image showing the keratinizing zone with optical “empty” granular cells, scarce amounts of keratohyalin granules, and tonofilaments in the skin of the index patient. B, In the left panel the typical aspect in a skin biopsy specimen of a patient with ARCI caused by NIPAL4 mutations is shown. Note the regular keratohyalin granules and tonofilaments configuration and irregular vesicular structures (arrows). In the right panel a higher magnification of a granular cell demonstrates irregular vesicles and empty or small vesicles adhering to the marginal membrane.
Journal of Allergy and Clinical Immunology  , e15DOI: ( /j.jaci )
Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5. Fig E2
Partial sequences of NIPAL4 exon 4, SPINK5 exons 13 and 14, and FLG exon 3 obtained by means of sequencing of the DNA extracted from the EDTA blood of the father and mother of the patient. The codons containing mutations are marked by a line, and the minor sequence variant is indicated in red. The amino acid substitution is also in red.
Journal of Allergy and Clinical Immunology  , e15DOI: ( /j.jaci )
Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions