The 10 warning signs: A time for a change?

Current Opinion in Allergy and Clinical Immunology

Volumn 12, Issue 6, 2012, Pages 588-594

  O'Sullivana, Michael D ^a   Cant, Andrew J ^b  

^a PATHWEST LABORATORY MEDICINE   (Australia)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Autoimmunity; Diagnosis; Guidelines; Infection; Primary immunodeficiency

Indexed keywords

ANTIBIOTIC AGENT;

ANTIBIOTIC THERAPY; BACTERIAL INFECTION; CHRONIC DIARRHEA; CLINICAL EVALUATION; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; EAR INFECTION; FAMILY HISTORY; HUMAN; IMMUNE DEFICIENCY; MYCOSIS; PATIENT IDENTIFICATION; PNEUMONIA; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW; SEPTICEMIA; SKIN ABSCESS; THRUSH; TREATMENT DURATION; VIRUS INFECTION; WEIGHT GAIN; WEIGHT REDUCTION;

HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES;

EID: 84871285854     PISSN: 15284050     EISSN: 14736322     Source Type: Journal    
DOI: 10.1097/ACI.0b013e3283591534     Document Type: Review

References (49)

1. Jeffrey Modell Foundation 10 Warning Signs of Primary Immunodeficiency for Adults. (2009). http://www.info4pi.org/aboutPI/pdf/Adult10WarningSigns- FINAL.pdf. [Accessed 25 March 2012]
2. Jeffrey Modell Foundation 10 Warning Signs of Primary Immunodeficiency. (2009). http://www.info4pi.org/aboutPI/pdf/General10WarningSignsFINAL. pdf. [Accessed 25 March 2012]
3. Modell V, Gee B, Lewis B, et al. Global study of primary immunodeficiency diseases (PI): diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res 2011; 51:61-70
4. Modell V. Testimony of Vicki Modell for the Jeffrey Modell Foundation. House Appropriations Subcommittee on Labor, Health and Human Services and Education, 12 May 2010. http://democrats.appropriations.house.gov/images/ stories/pdf/lhhse/11Jeffrey-Modell-Foundation-Testimony.pdf. [Accessed 25 March 2012]
5. Guttmacher A. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Letter to US physicians regarding National Physician Education and Public Awarness Campaign for Primary Immunodeficiencies (n.d.). http://www.info4pi.org/picampaign/letter/NIH-Letter-10-Warning-Signs.pdf. [Accessed 25 March 2012]
6. Subbarayan A, Colarusso G, Hughes SM, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics 2011; 127:810-816
7. MacGinnitie A, Aloi F, Mishra S. Clinical characteristics of pediatric patients evaluated for primary immunodeficiency. Pediatr Allergy Immunol 2011; 22: 671-675
8. Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann N Y Acad Sci 2011; 1238:7-14
9. Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009; 361:2046-2055
10. Chu EY, Freeman AF, Jing H, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol 2012; 148:79-84
11. Al-Herz W, Nanda A. Skin manifestations in primary immunodeficient children. Pediatr Dermatol 2011; 28:494-501
12. Kobrynski LJ, Mayer L. Diagnosis and treatment of primary immunodeficiency disease in patients with gastrointestinal symptoms. Clin Immunol 2011; 139:238-248
13. Cunningham-Rundles C. Autoimmunity in primary immune deficiency: taking lessons from our patients. Clin Exp Immunol 2011; 164 (Suppl 2):6-11
14. Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD. Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. J Clin Immunol 2008; 28 (Suppl 1):S11-S19
15. Arason GJ, Jorgensen GH, Ludviksson BR. Primary immunodeficiency and autoimmunity: lessons from human diseases. Scand J Immunol 2010; 71:317-328
16. Picard C, von Bernuth H, Ghandil P, et al. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) 2010; 89:403-425
17. de Vries E, for the Clinical Working Party of the European Society for Immunodeficiencies (ESID). Patient-centred screening for primary immunodeficiency: a multistage diagnostic protocol designed for nonimmunologists. Clin Exp Immunol 2006; 145:204-214
18. de Vries E, in collaboration with European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multistage diagnostic protocol designed for nonimmunologists: 2011 update. Clin Exp Immunol 2011; 167:108-119
19. Slatter MA, Cant AJ. Hematopoietic stem cell transplantation for primary immunodeficiency diseases. Ann N Y Acad Sci 2011; 1238:122-131
20. Griffith LM, Cowan MJ, Notarangelo LD, et al., on behalf of the workshop participants. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol 2009; 124:1152-1160; e12
21. Carneiro-Sampaio M, Jacob CMA, Leone CR. A proposal of warning signs for primary immunodeficiencies in the first year of life. Pediatr Allergy Immunol 2011; 22:345-346
22. Szczawinska-oplonyk A, Kycler Z, Pietrucha B, et al. The hyperimmunoglobulin E syndrome: clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis 2011; 6:76
23. Demidowich AP, Freeman AF, Kuhns DB, et al. Genotype, phenotype, and clinical course in five patients with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. Arthritis Rheum 2011; 64:2022-2027
24. Jaggi P, Scherzer R, Knieper R, et al. Utility of screening for chronic granulomatous disease in patients with inflammatory bowel disease. J Clin Immunol 2012; 32:78-81
25. Liu S, Abrams D, Baldassano RN, Sullivan KE. Prevalence of chronic granulomatous disease in pediatric patients diagnosed with Crohn's disease. Inflamm Bowel Dis 2008; 14:727-728
26. Marks DJB, Miyahi K, Rahman FZ, et al. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease. Am J Gastroenterol 2009; 104:117-124
27. Damen GM, Krieken JH, Hoppenreijs E, et al. Overlap, common features, and essential differences in pediatric granulomatous inflammatory bowel disease. J Pediatr Gastroenterol Nutr 2010; 51:690-697
28. Liu S, Russo PA, Baldassano RN, Sullivan KE. CD68 expression is markedly different in Crohn's disease and the colitis associated with chronic granulomatous disease. Inflamm Bowel Dis 2009; 15:1213-1217
29. Schimke LF, Sawalle-Belohradsky J, Roesler J, et al. Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol 2010; 126:611-617; e1
30. Siddiqui S, Anderson VL, Hilligoss DM, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis 2007; 45:673-681
31. Beauté J, Obenga G, Mignot L, et al. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pediatr Infect Dis J 2011; 30:57-62
32. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol 2010; 38:3-10
33. Yildiz O, Doganay M. Actinomycoses and Nocardia pulmonary infections. Curr Opin Pulm Med 2006; 12:228-234
34. Pasteur MC, Bilton D, Hill AT. British Thoracic Society Bronchiectasis non-CF Guideline Group British Thoracic Society guideline for non-CF bronchiectasis. Thorax 2010; 65 (Suppl 1):i1-i58
35. Li AM, Sonnappa S, Lex C, et al. Non-CF bronchiectasis: does knowing the aetiology lead to changes in management? Eur Respir J 2005; 26:8-14
36. Menon VJ, Corscadden KJ, Fuery A, et al. Children with otitis media mount a pneumococcal serotype specific serum IgG and IgA response comparable to healthy controls after pneumococcal conjugate vaccination. Vaccine 2012; 30:3136-3144
37. Buckley R H, editor. Immune Deficiency Foundation Diagnostic and Clinical Care Guidelines for Primary Immunodeficiency Diseases. 2nd ed. Immune Deficiency Foundation, Maryland, USA; 2009.
38. Desrosiers M, Evans GA, Keith PK, et al. Canadian clinical practice guidelines for acute and chronic rhinosinusitis. Allergy Asthma Clin Immunol 2011; 7:2; 1-38
39. Carr TF, Koterba AP, Chandra R, et al. Characterization of specific antibody deficiency in adults with medically refractory chronic rhinosinusitis. Am J Rhinol Allergy 2011; 25:241-244
40. Wasserman RL, Manning SC. Diagnosis and treatment of primary immunodeficiency disease: the role of the otolaryngologist. Am J Otolaryngol 2011; 32:329-337
41. Hoare S, El-Shazali O, Clark JE, et al. Investigation for complement deficiency following meningococcal disease. Arch Dis Child 2002; 86:215-217
42. Hirschfeld AF, Bettinger JA, Victor RE, et al. Prevalence of Toll-like receptor signalling defects in apparently healthy children who developed invasive pneumococcal infection. Clin Immunol 2007; 122:271-278
43. Health Protection Agency, Centre for Infections. Current Epidemiology of Invasive Pneumococcal Disease at. http://www.hpa.org.uk/Topics/Infectious- Diseases/InfectionsAZ/Pneumococcal/EpidemiologicalDataPneumococcal/ CurrentEpidemiologyPneumococcal. [Accessed 22 April 2012]
44. Sancho-Shimizu V, Pé rez de Diego R, Lorenzo L, et al. Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest 2011; 121:4889-4902
45. Jones LBKR, McGrogan P, Flood TJ, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol 2008; 152:211-218
46. van den Berg JM, van Koppen E, A ° hlin A, et al. Chronic Granulomatous Disease: The European Experience. PLoS ONE 2009; 4:e5234.
47. Engelhardt KR, Grimbacher B. Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol 2012; 129:294-305; quiz 306-7
48. Liu L, Okada S, Kong XF, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 2011; 208:1635-1648
49. Barsalou J, Saint-Cyr C, Drouin E, et al. High prevalence of primary immune deficiencies in children with autoimmune disorders. Clin Exp Rheumatol 2011; 29:125-130