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Syndromic Multisystem Autoimmune Disease due to ITCH Deficiency

Multisystem Autoimmune Disease with Facial Dysmorphism


  • In most cases, PIDDs present in childhood, but late presentations may occur or even predominate in some forms, such as CVID.[accessmedicine.mhmedical.com]
  • Stephan Stapczynski, MD, Editor Illustrative Case Presentation A 65-year-old female presents to the emergency department with a chief complaint of a severe rash. The rash has been present for two weeks on her arms, neck, and scalp.[ahcmedia.com]
  • […] may reveal anemia.  Ecchymoses due to vitamin K deficiency may be present.  Dermatitis herpetiformis, erythema nodosum, and pyoderma gangrenosum may be present.  Pellagra, alopecia, or seborrheic dermatitis may be present. 33.  Neurologic al manifestation[slideshare.net]
  • Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy.[autoinflammatory-search.org]
  • We present a comprehensive review of skeletal and joint manifestations in PIDs according to the most recent classifications.[symbiosisonlinepublishing.com]
Recurrent Infection
  • Infections; Immunoglobulin Treatment for Primary Immunodeficiency; Bone Marrow Transplantation for Primary Immunodeficiency; and Autoimmune Manifestations of Primary Immunodeficiency.[books.google.de]
  • Invasive recurrent infections sustained by Neisseria species are an indication for assessing complement levels and function.[accessmedicine.mhmedical.com]
  • infection due to specific granule deficiency, Recurrent infections-myelofibrosis-nephromegaly syndrome, Shwachman-Diamond syndrome, Transcobalamin deficiency, WHIM syndrome, Wiskott-Aldrich syndrome, X-linked dyserythropoetic anemia with abnormal platelets[bbrauncegat.com]
  • infection syndrome, 147060 ELF4 Hypogammaglobulinaemia (Stewart (2005) Curr Opin Allergy Clin Immunol 5, 510) IL21R IgE, elevated level of, 147050 CORO1A Immunodeficiency 8, 615401 ORAI1 Immunodeficiency 9, 612782 STIM1 Immunodeficiency 10, 612783 UNC119[gsdseq.ir]
  • Reduced small bowel motility - can cause bacterial overgrowth, with bloating, malabsorption, diarrhoea and malnutrition. (Malnutrition may also be caused by swallowing problems.) Constipation due to reduced colonic motility.[patient.info]
  • .  Hyperthyroidism  Hypothyroidism  Addisons' disease  Diabetes mellitus  Hyperparathyroidism  Hypoparathyroidism  Carcinoid syndrome  Widespread skin disease  Malnutrition.  Collagen diseases.  Eating disorders. 20.[slideshare.net]
  • Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication[invitae.com]
  • Some with hepatomegaly, splenomegaly or hepatosplenomegaly.[autoinflammatory-search.org]
  • […] non-Amish patient with ITCH syndrome Comparison between the 10 Amish patients and our non-Amish patient Clinical Features Failure to Thrive Developmental delay Dysmorphic features 10 Amish patients1 100% 100% 100% Relative macrocephaly Hepatomegaly and /or splenomegaly[slideblast.com]
  • Abnormal enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly) and the spleen (splenomegaly) may also occur in some cases.[rarediseases.org]
  • Organomegaly manifested mostly as hepatomegaly (82%), lymphadenopathy (65%), or splenomegaly (39%). Endocrinopathy occurred as impotence (78%) or gynecomastia (68%) in men and as amenorrhea (68%) in women.[emedicine.medscape.com]
Blurred Vision
  • vision, burning or red eyes, tearing Cough, asthma-like illness, shortness of breath, chronic sinus congestion Air hunger or unusual shortness of breath at rest Chronic abdominal problems including nausea, cramping, secretory diarrhea A propensity to[chriskresser.com]
  • Pruritus, which is triggered by a bath or a shower and which lasts up to 1 hour, is a typical symptom in patients with polycythemia vera. The degree of pruritus is not related to the severity of the disease.[emedicine.medscape.com]
  • Typical clinical features include jaundice, elevated blood levels of alkaline phosphatase, calcinosis cutis, telangiectasia and pruritus.[codelay.com]
  • Affected patients have severe pruritus and peripheral eosinophilia. Erythema gyratum repens has a strong association with lung cancer; the association with breast, cervical, and gastrointestinal cancers is less strong.[clevelandclinicmeded.com]
  • Oral steroids can be used for patients experiencing extreme pruritus and extensive eruption.Treatment recommendations for these patients include avoidance of sunlight during greatest intensity (10 a.m.-2 p.m.) and proper protection with sunscreen.[ahcmedia.com]
Skin Ulcer
Onset in Infancy or Childhood
  • Some cases with psoriatic arthritis. [23] [24] Variable age of onset from infancy or childhood to adulthood with pustular psoriasis. [23] [24] Generalized pustular psoriasis (that can be severe), and/or plaque psoriasis.[autoinflammatory-search.org]


  • Diagnosis is often made by history, clinical presentation, and an otherwise negative workup. The differential includes atopic dermatitis if the papular subtype is presenting, and lupus in the plaque subtype.[ahcmedia.com]
Staphylococcus Aureus
  • Secondary infections, mostly with Staphylococcus aureus , Pseudomonas aeruginosa, Streptococcus species, and Bacteroides species are most common.[emedicine.medscape.com]


  • Immunodeficiency Disorder; Severe Combined Immunodeficiency Disorder; Specific Antibody Deficiencies; Common Variable Immunodeficiency; Pulmonary Manifestations of Primary Immunodeficiency Disorders; Approach to the Child with Recurrent Infections; Immunoglobulin Treatment[books.google.de]
  • Treatment: No comprehensive treatment is known. Immunosuppressive and corticosteroid treatments may ameliorate some of the symptoms. Acute infections require appropriate treatment and gastrostomy feeding may be helpful in some patients.[wohproject.org]
  • Phototherapy treatment directed by a dermatologist can be given in small dose increments for desensitization. Additional treatment using Psoralen UVA (PUVA) with two or three treatments a week for 1-3 months can induce remission.[ahcmedia.com]
  • What are the treatments for TRAPS? There is still no proven definitive treatment to prevent or cure the disease.[my.clevelandclinic.org]


  • Prognosis The disease course varies with each individual. The prognosis depends on the extent of complications. Therefore, mortality figures vary enormously. Overall, five-year survival is around 75% and ten-year survival is around 62.5% [ 24 ] .[patient.info]
  • PROGNOSIS: The disease is highly variable in severity with some succumbing to respiratory failure as infants while one has lived into the second decade and another into the third decade.[wohproject.org]
  • Patients with CREST syndrome have a better prognosis. Differential diagnosis includes diabetic sclerodema, scleromyxedema, and chronic graft-versus-host disease.[clevelandclinicmeded.com]
  • The prognosis for leukemia cutis is related directly to the prognosis for the systemic disease. Therapy is usually directed at the underlying leukemia.[emedicine.medscape.com]
  • Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum. 2007;37:137-148. de Koning HD, Bodar EJ, Simon A, van der Hilst JC, Netea MG, van der Meer JW.[rarediseases.org]


  • Edghill EL, et al: HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes 2006;55:1895-1898.[karger.com]
  • This review highlights the different manifestations, including infectious as well as noninfectious etiologies that may occur in the skeletal system of patients with primary Immunodeficiencies.[symbiosisonlinepublishing.com]
  • Three characteristics define the etiology of inflammatory bowel disease (IBD):  Genetic predisposition;  An altered, dysregulated immune response;  An altered response to gut microorganisms. 105.  The peak age of onset for IBD is 15 to 30 years old[slideshare.net]
  • Warfarin also has been implicated in the etiology of calciphylaxis in patients with end-stage renal disease. It is a poorly understood disorder associated with high morbidity and mortality (60-80%).[emedicine.medscape.com]


  • Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease. J Pediatric Infect Dis Soc. 2018 May 09; 7(suppl_1):S2-S5. PMID: 29746675.[profiles.viictr.org]
  • Registry data has been used in epidemiological studies to gauge PID prevalence: 5.38/100,000 in France, 5.6/100,000 in Australia, USA 86.3/100,000 inhabitants [8].[symbiosisonlinepublishing.com]
  • Epidemiology [ 1 , 2 ] SSc is present throughout the world and is represented in all ethnic groups. Incidence and prevalence figures vary widely and there appears to be a large geographical variation.[patient.info]
  • Based on clinical experience and epidemiologic studies, the causes of leg ulceration can be divided into 3 categories: reduction in blood supply to the skin (infarction being the primary cause), local edema, and minor trauma.[emedicine.medscape.com]
Sex distribution
Age distribution


  • Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease. J Pediatric Infect Dis Soc. 2018 May 09; 7(suppl_1):S2-S5. PMID: 29746675.[profiles.viictr.org]
  • In addition to the main pathophysiologic finding of fibro-osseous bone formation, craniosynostosis has been reported in Cherubism syndrome, where a mutation in SH3BP2 causes bone degeneration in the jaws [137].[symbiosisonlinepublishing.com]
  • The pathophysiology of this phenomenon is not completely understood. Differential diagnosis includes psoriasis, atopic dermatitis, allergic or irritant contact dermatitis, and dermatophyte (tinea) infections.[clevelandclinicmeded.com]
  • They are described below based on the following six categories. ( See Table 1. ) Pathophysiology Ultraviolet radiation reaching the skin comes in three forms: UVA (320-400 nm), UVB (290-320 nm), and UVC (100-290 nm).[ahcmedia.com]


  • In this way, episodes can usually be prevented (in 60 percent of patients completely prevented, in 33 percent partially prevented, and in about 5 percent colchicine is not effective) and amyloidosis can be prevented in 100 percent of patients.[my.clevelandclinic.org]
  • In fact, many experts recommend maintaining indoor humidity levels between 30 and 50 percent for preventing the growth of mold and other biotoxins.[chriskresser.com]
  • SMER3 potently blocks the F-box protein Met30 to prevent degradation of Met4, an antiproliferative transcriptional activator ( 44 ).[jci.org]
  • For Raynaud's phenomenon: Prevention - avoid cold and trauma; use warm clothing or heated clothing.[patient.info]
  • The goal of treatment in idiopathic thrombocytopenic purpura is to elevate the platelet count to a level adequate to prevent major bleeding.[emedicine.medscape.com]

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