Table 2.
A summary of the demographic and clinical features of IEI patients with pemphigoid blistering diseases
| Patient | Type of PIDs (Mutated gene) | Type of blistering disorder | Age (years) | Sex | Parental consanguinity | Origin | The onset of skin disorder (years) | Blister involvement | DIF | Other comorbidities | Treatment | D/A | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | CID (PGM3) | Bullous pemphigoid | 2.7 | M | Yes | Afghanistan | 2.2 | Face, trunk, extremities | IgG, C3 | FTT, enteropathy, allergy, recurrent otitis media with tympanic membrane perforation, recurrent oral candidiasis, hair loss, koilonychia | Prednisolone, azathioprine | D | This report, 2022 |
| 2 | CID (PGM3) | Bullous pemphigoid | 1.0 | F | Yes | Afghanistan | NA | Face, trunk, extremities | IgG, C3 | Food allergy, eczema, FTT, Recurrent oral candidiasis, RTI, recurrent oral candidiasis | IVIg | A | This report, 2022 |
| 3 | IPEX (FOXP3) | Bullous pemphigoid | 7.0 | M | No | Denmark | 2.0 | Face, extremities, gluteal region | IgG | FTT, Lymphoid interstitial pneumonia | Prednisolone, Azathioprine, MMF, CsA | A | Anderson et al. 2021 |
| 4 | IPEX (FOXP3) | Pemphigoid nodularis | 23.0 | NA | NA | USA | NA | NA | NA | Recurrent RTI, Enteropathy, Eczema/psoriasis, Thyroiditis, Nephropathy, Hypogammaglobulinemia | Immunosuppressive, IVIg, HSCT | NA | Rosenberg et al. 2018 [13] |
| 5 | CVID (NA) | Mucous membrane pemphigoid | 73.0 | F | NA | USA | 72.2 | Oral mucosa | IgG, C3 | No | Topical dexamethasone | A | Doll et al., 2017 [21] |
| 6 | ZAP70 Deficiency (ZAP70) | Bullous pemphigoid | 2.0 | M | No | USA | 1.6 | Face, trunk, extremities, oral mucosa | IgG | Inflammatory colitis, Hemophilia, Nephrotic Syndrome | HSCT | A | Chan et al., 2016 [20] |
| 7 | ZAP70 Deficiency (ZAP70) | Bullous pemphigoid | 0.2 | F | No | USA | 0.1 | Face, trunk, extremities | IgG | Growth failure, Inflammatory colitis, Proteinuria, autoimmune thyroiditis | HSCT | A | Chan et al., 2016 [20] |
| 8 | HIES (STAT3) | Bullous pemphigoid | 30.0 | F | NA | Indonesia | 4.0 | Entire body | NA | Esophagus stricture, Recurrent RTI, Lung TB, Alopecia, Hair loss, Anonychia, Anemia, Malnutrition | Prednisolone, Topical antibiotics | A | Budiyani et al. 2016 [18] |
| 9 | IPEX-like syndrome (CD25/IL2RA) | Bullous pemphigoid | 8.0 | F | Yes | Italy | 1.0 | NA | NA | Autoimmune enteropathy, CMV infection, Diffuse eczema, Autoimmune thyroiditis, Alopecia universalis, Lymphadenopathies | Plasmapheresis | A | Goudy et al. 2013 [16] |
| 10 | IPEX-like syndrome (NA) | Bullous pemphigoid | 7.0 | NA | NA | Italy | NA | NA | NA | Arthritis, AIHA, Autoimmune hepatitis, Enteropathy | Steroids, Rituximab, MMF, cyclophosphamide | NA | Barzaghi et al. 2012 [17] |
| 11 | HIES (NA) | Bullous pemphigoid | 0.5 | M | No | Turkey | 0.2 | Face, trunk, extremities, oral mucosa | IgG | Recurrent RTI, Recurrent oral thrush, Otitis, Severe eczema | Prednisolone, Antibiotics | A | Erbagci et al. 2008 [19] |
| 12 | CVID | IgA mucous membrane pemphigoid | 46.0 | F | NA | Canada | 45.3 | Conjunctiva | IgA | Eye disorder, meningioma, atrial myxoma | Dapsone, IVIG | Suwattee et al. 2004 | |
| 13 | IPEX (FOXP3) | Bullous pemphigoid, pemphigoid nodularis | 14.0 | M | No | USA | 0.1 | Face, trunk, extremities | IgG, C3 | Autoimmune enteropathy, Recurrent RTI, Abscess, Asthma, growth failure, VZV and EBV infection | Prednisolone, CsA, Dapsone, Azathioprine, MTX, Hydroxyzine, SSRI, Topical tacrolimus, IVIg, Antibiotics, Rituximab | A | Ferguson et al. 2000 [14], McGinnes et al. 2006 [15] |
| 14 | NA | Juvenile pemphigoid | 0.8 | F | NA | UK | 0.7 | Face, trunk, extremities | IgG | Thymic hypoplasia, AIHA, T lymphopenia | Prednisolone, sulphapyridine | D | Bloomfield et al. 1982 [12] |
A alive, AIHA autoimmune hemolytic anemia, CGD chronic granulomatous disease, CID combined immunodeficiency, CMV cytomegalovirus, CsA cyclosporine A, CVID common variable immunodeficiency, D dead, DIF direct immunofluorescence, EBV epstein-barr virus, F female, FOXP3 forkhead box protein P3, HIES hyper IgE syndrome, HSCT hematopoietic stem cell transplantation, Ig immunoglobulin, IVIg intravenous immunoglobulin, IL2RA interleukin-2 receptor alpha chain, IPEX immune dysregulation, polyendocrinopathy, enteropathy, X-linked, M male, MMF Mycophenolate mofetil, MTX methotrexate, NA not available, PID primary immunodeficiency disorder, RTI respiratory tract infection, STAT signal transducer and activator of transcription, TB tuberculosis, VZV Varicella zoster virus, ZAP70 zeta-chain-associated protein kinase 70