Cutaneous graft-versus-host-like histology in childhood. Importance of clonality analysis in differential diagnosis. A case report

Abstract

2 Marinkovich MP, Taylor TB, Keene DG et al. LAD-1, the linear IgA dermatosis autoantigen, is a novel 120 kDa anchoring filament protein synthesized by epidermal cells. J Invest Dermatol 1996; 106:734-8. 3 Pas HH, Kloosterhuis GJ, Heeres K et al. Bullous pemphigoid and linear IgA dermatosis sera recognize a similar 120 kDa keratinocyte collagenous glycoprotein with antigenic cross-reactivity to BP180. J Invest Dermatol 1997; 108:423-9. 4 Zone JJ, Taylor TB, Meyer LJ et al. The 97 kDa linear IgA bullous disease antigen is identical to a protein of the extracellular domain of the 180 kDa bullous pemphigoid antigen, BPAg2. J Invest Dermatol 1998; 110:207-10. 5 Nakatani C, Muramatsu T, Shirai T. Immunoreactivity of bullous pemphigoid (BP) autoantibodies against the NC16A and C-terminal domains of the 180 kDa BP antigen (BP180): immunoblot analysis and enzyme-linked immunosorbent assay using BP180 recombinant proteins. Br J Dermatol 1998; 139:365-70. 6 Hirako Y, Nishizawa Y, Sitaru C et al. The 97-kDa (LABD97) and 120-kDa (LAD-1) fragments of bullous pemphigoid antigen 180 ⁄ type XVII collagen have different N-termini. J Invest Dermatol 2003; 121:1554-6. 7 Matsumura K, Amagai M, Nishikawa T et al. The majority of bullous pemphigoid and herpes gestationis serum samples react with the NC16a domain of the 180-kDa bullous pemphigoid antigen. Arch Dermatol Res 1996; 288:507-9. 8 Schmidt E, Herzele K, Schumann H et al. Linear IgA disease with circulating IgA antibodies against the NC16A domain of BP180. Br J Dermatol 1999; 140:964-6. 9 Zillikens D, Herzele K, Georgi M et al. Autoantibodies in a subgroup of patients with linear IgA disease react with the NC16A domain of BP180. J Invest Dermatol 1999; 113:947-53.

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

“…In addition, a private de novo missense variant in PSMB10 was observed in a patient with clinically diagnosed Omenn syndrome with severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia (patient 1, Table 2B). The clinical phenotype of this patient has been previously reported (28). The DNV was predicted to be pathogenic based on the majority of variant and gene level metrics.…”

“…This entailed that patient DNA numbers were enciphered at random to ascending numbers for our study by a Genome Diagnostics member from the department of Human Genetics in the RUMC and clinical descriptions were condensed. Prior to this study, one patient was published as a clinical case report by D’hauw et al , 19 patient-parent trios were included in the IEI cohort of Arts et al , and one trio was part of a study by Konrad et al (Figure 1 – table supplement 1) (10, 27, 28).…”