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1 PAAA Annual Meeting June 25, 2016 Edward W. Cowen, MD, MHSc Senior Clinician and Head, Dermatology Consultation Service Dermatology Branch, Center for Cancer Research National Cancer Institute, National Institutes of Health No relevant financial relationships with commercial interests 1
2 Powerful genetic techniques Precise phenotyping 2014 International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 250 PIDs 30 new genes since 2011 report (1 disease/5 wks) Front Immunol Apr 22;5:162. 2
3 PID skin manifestations Eczematous dermatitis Mucocutaneous candidiasis Autoimmune skin disease Skin neoplasia Ectodermal dysplasia PID Autoinflammatory skin disease Granuloma Albinism Panniculitis PID skin manifestations DOCK8 deficiency IL-17 mutations APECED ADA-SCID DFSP NEMO deficiency PID PLAID syndrome Hypomorphic RAG mutations Chediak-Higashi S. GATA2 deficiency 3
4 Common things are common, even in the immunocompromised setting T. Corporis HIV Common things are common, even in the immunocompromised setting Common things present in an uncommon manner in the immunocompromised setting 4
5 5
6 Common things are common, even in the immunocompromised setting Common things present in an uncommon manner in the immunocompromised setting Uncommon things occur in the immunocompromised setting 6
7 7
8 Necrotizing fasciitis caused by Serratia marcescens in two patients receiving corticosteroid therapy. Huang JW, Fang CT, Hung KY, Hsueh PR, Chang SC, Tsai TJ. Hemorrhagic bullae Bluish skin discoloration Severe pain vs. anesthesia J Formos Med Assoc Dec;98(12): Fulminant NF caused by S.marcescens in an immunosuppressed host. Int J Dermatol May 29,
9 17 y.o. male: 4 mo. hx leg ulceration Blood culture: negative Tissue culture: thin film (non cultivable) surrounding Group B Strept. colony Histology: suppurative granuloma PAS, Fite, Brown & Bren, GMS negative Warthin Starry: curvilinear, rod like organisms Murray P. et al. Arch Dermatol 2010; 146:
10 Bacteremia and skin/bone infections in two patients with X linked agammaglobulinemia caused by Flexispira/Helicobacter species. Clin Immunol. 2000;97(2): Mass Spectrometry for ID of human infection (IBIS Bioscience) Amplification of species specific 16s rdna sequences Mass of the amplified products by mass spectrometer Murray P. et al. Arch Dermatol 2010; 146: Feb 12, 2013 April 1,
11 Common things are common, even in the immunocompromised setting Common things present in an uncommon manner in the immunocompromised setting Uncommon things occur in the immunocompromised setting Not every skin manifestation in the immunocompromised setting is an infection Chronic chest pain/nausea Applied heating pad QD x >8 mo. Erythema ab igne 11
12 CMAJ Dec 14;182(18):E
13 13
14 14
15 Chronic granulomatous disease Cutaneous lupus X linked agammaglobulinemia Dermatomyositis, RA Wiskott Aldrich S. Colitis, AIHA, glomerulonephritis CVID Autoimmunity, granuloma 15
16 Common variable immunodeficiency Autoimmunity (23%) Granuloma (8 20%) Autoimmunity Rev 5 (2006) CVID cutaneous granuloma 2008;358: females (3, 7, 10 yrs) 2/3 no significant infections prior to diagnosis Cutaneous granulomas (CD8+) Compound heterozygotes (RAG1, RAG2 mutations) N Engl J Med 2008; 358:
17 Hypomorphic Rag mutations Residual recombination activity (5 30%) T + B + NK + (low for age); Ig NL or low Infection risk highly variable/late onset Granulomatous disease Skin, lungs, tongue, adenoids, spleen Multiple autoimmune conditions Autoimmune cytopenias N Engl J Med 2008; 358: Blood 2010;116: Compound heterozygote Rag1; normal TCR repertoire, myasthenia gravis 17
18 Blood 2010;116: Familial atypical cold urticaria Familial cold autoinflammatory syndrome 3 (FCAS3) PLAID OMIM
19 Evaporative cold urticaria (27/27) Granulomatous rash Autoimmunity (thyroiditis, ANA) Sinopulmonary infection Airflow over wet arm Ice cube N Engl J Med 2012;366: Symptoms within first year of life Flare > wheal Evaporative cooling, cold water immersion (swimming) syncopal episodes Cold food ingestion esophageal burning Antihistamines limited benefit 19
20 JAMA Dermatol. epub March 11, Day 3 of life 6 weeks Nasal destruction Resolution 1 wk 1 year (6/8) Histopathology/pathogenesis? Vesicles/erosions fingers/toes Temperature related? JAMA Dermatol. epub March 11,
21 21
22 22
23 JAMA Dermatol. epub March 11,
24 24
25 N Engl J Med 2012;366: JAMA Dermatol. epub March 11,
26 Consider PLAID in patients with cold urticaria Family Hx cold urticaria Recurrent sinopulmonary infections Neonatal nasal/acral ulceration Granulomatous skin disease 8 year old recalcitrant dermatitis (bx proven) 26
27 Diagnosis? History Infections: pneumonia, bacteremia, line infections Diagnosis? History Infections: pneumonia, bacteremia, line infections Family hx: two brothers, no parents 27
28 Diagnosis? History Infections: pneumonia, bacteremia, line infections Family hx: two brothers, no parents Atopic: anaphylaxis: cefipime; food allergy M Skeletal: no retained teeth, pathologic fx, or scoliosis Physical evaluation Oral exam: teeth, palate, tongue WNL No hyperextensibility Genitalia/skin folds Bacterial, viral cultures: MRSA, HSV Skin biopsy: dermatitis Laboratory evaluation: Eos: (0 0.77k/ul); 22% IgE: 14,500 (0 90 IU/ml) Severe atopic with MRSA, eczema herpeticum.or something more? 28
29 Nov 2009;361: ;361: Typical STAT3 HIES features: Recurrent sinopulmonary infections Recurrent Staphlococcus aureus skin infections Elevated serum IgE Severe chronic dermatitis Atypical features: Lymphopenia Asthma, severe food allergies/anaphylaxis Severe cutaneous viral infections Vulvar, facial, anal SCC, lymphoma Autosomal recessive DOCK8 Regulate cytoskeletal rearrangements Cell migration, polarization, fusion, phagocytosis Activate Rho GTPases (Cdc42) Su HC. Curr Opin Allergy Clin Immunol 2010;10: Zhang et al. NEJM 2009;361:
30 30
31 Su HC. Curr Opin Allergy Clin Immunol 2010;10:
32 32
33 33
34 Pre-HSCT Post-HSCT Biology of Blood and Marrow Transplant , Broad nasal root with fleshy nasal tip Coarse features with doughy subcutaneous tissue Prominent wide forehead; prognathic pointed chin Oral Diseases 14; p January
35 2007;448: ;357:1608. Nature 2008;452:773. Lynde CW, JAAD 2014;71:
36 Differentiation dependent upon STAT 3 signaling Secrete IL 17A, IL 17F, IL 21, IL 22, IL 26 Broad range of proinflammatory danger signals IL 17A: 155aa glycoprotein Homo or heterodimer (IL 17F) Interleukin 17F Restricted expression activated T cells No resemblance to other IL or known proteins Differentiation dependent upon STAT 3 signaling Secrete IL 17A, IL 17F, IL 21, IL 22, IL 26 Broad range of proinflammatory danger signals IL 17A: 155aa glycoprotein Homo or heterodimer (IL 17F) Restricted expression activated T cells No resemblance to other IL or known proteins Mucocutaneous antifungal immunity Interleukin 17F 36
37 Autosomal recessive: complete loss of cytokine receptor, interleukin 17 receptor A (IL 17RA) Autosomal dominant: impaired activity of cytokine interleukin 17F (IL 17F) Autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy (APECED) Autoimmune regulator gene (AIRE) 37
38 Lynde CW, JAAD 2014;71: Lynde CW, et al. JAAD 2014 Jul;71(1):141-50). 38
39 Lancet June 10,
![Lancet June 10, 2015 [26] Have or had an](/docs-images/92/109627580/images/40-2.jpg "infection typical of an immunocompromised host,")
40 Lancet June 10, 2015 [26] Have or had an infection typical of an immunocompromised host, and/or that occurs with increased incidence in an immunocompromised host (including, but not limited to, Pneumocystis jirovecii pneumonia, histoplasmosis, or coccidioidomycosis); or have a known immunodeficiency. Healthy 23 year old female evaluated for verruca since age 9 1 year post partum, MBA student 40
41 Imiquimod, cimetidine, squaric acid, laser Tx, LN2, tretinion Treated in past with isotretinoin improvement? Report of low Ig Hx of VIN2/3, CIN2 (age 20) Hx of recurrent otitis media, arm/leg cellulitis Fam Hx: father warts; maternal family hx leukemia (great aunt, g mother, 2 nd cousin) Blood. 2010;115(8): ;115: Profound monocytopenia (B, NK penia) 2. Non Tb mycobacteria, HPV, fungal infections 3. 10/18 malignancy MDS/leukemia (9), vulvar CA, metastatic melanoma, Bowens, leiomyosarcoma 41
42 43: (2011) Primary lymphedema SN hearing loss AML HPV infection Anogenital dysplasia Pichard et al. J Am Acad Dermatol (in press) Nature Genetics 2011;43,
43 1/3 Spinner et al. Blood 2014;123: patients ( ) 51% symptomatic by age 20 42/50 bone marrow MDS (hypocellular) Infections HPV: 63% HSV1/2: 16%, severe VZV: 11%, EBV: 11%, CMV: 4% Atypical mycobacterial: 53% (slow and rapid) Bacterial: 49% (bacteremia 21%, skin/soft tissue 19%, C. difficile colitis 9%) Fungal: 16% (aspergillosis 9%, histoplasmosis 5%) Blood 2014;123:
44 Blood 2014;123:
45 45
46 Presented at NIH Derm Rounds Feb 2013 CBC: 0.05 monocytes ( K/uL) Peripheral blood: 8 10% blasts Bone marrow: 15% blasts (MDS/AML) Dx: GATA2/Monomac w/ MDS/AML March 2013: induction chemotx (ARA C, idarubicin) April 2013: 28% circulating blasts (2 nd induction) May 2013: Allogeneic HSCT (unrelated donor) June 2013: Stage IV skin, liver, gut GVHD deceased 46
47 Aggressive HPV, lymphedema, MDS/AML, infection hx B, NK, monocytopenia strongly suggestive of GATA2 deficiency Other undefined PIDs Pediatric MDS/JMML (8/51) Blood ASH Abstracts 2012:1699. Idiopathic CD4+ lymphocytopenia (6/14) Blood 2013;121: Aplastic anemia (5/99) Blood ASH Abstracts 2012;3488. DOCK8, STAT3, STAT1 Alexandra Freeman Steve Holland GATA2 Steve Holland Christa Zerbe APECED Michail Lionakis 47
48 ADA SCID associated DFSPs 48
49 Convert adenosine to inosine and 2 deoxyadenosine to 2 deoxyinosine ADA SCID Toxic intracellular accumulation of deoxyadenosine Profound B/T cell lymphopenia, recurrent infection Lethal in childhood Tx: Pegylated ADA1, gene therapy 49
50 Blood. 2009;114(17): pediatric ADA SCID pts (ages 2 and 3): dermatofibrosarcoma protuberans (DFSP) Giant cell fibroblastoma (GCF) One pt. with multiple atrophic DFSPs DFSP H & E CD34 50
51 J Allergy Clin Immunol 2012 Mar;129(3): Single DFSP lesions described in two ADA SCID pts. DFSP: Rubocki et al. Blood. 2001;97: GCF: Carroll D et al. Pediatr Surg Int. 2003;19:495 6 Evaluation of 10 additional ADA SCID pts: DFSP 8/12 6/12 pts. multiple Bx proven DFSP: 54 total tumors Atrophic, lack classic storiform histology Immunohistochemistry: CD34+, XIIIa Cytogenetic/molecular confirmation Karyotype t(17;22)(q21.3;q13.1) FISH: COL1A1 PDGFB fusion RT PCR: COL1A1 PDGFB transcript 51
52 J Allergy Clin Immunol 2012 Mar;129(3):
53 PDGFB on 22 COL1A1 on 17 der 22 Link between T cell immunosuppression, failure of immune surveillance, and DFSP? Unidentified virus? HHV 8: Kaposi sarcoma Merkel cell polyomavirus: Merkel cell carcinoma Natural history of DFSP in ADA SCID setting? Imatinib mesylate? 53
54 Genetic advances understanding of immunity in healthy and disease states Therapeutic advances Antimicrobial prophylaxis Gene therapy Hematopoietic stem cell transplantation Altered natural history of disease Cardiac disease in Job syndrome DFSP in ADA SCID 54
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