Frequency of the 10 warning signs among patients with primary humoral immune deficiences

Hendershot, Richard W.; Watters, S.K.; Zacharisen, Michael C.; Kelly, Kayleigh

doi:10.1016/s0091-6749(03)80771-6

Cited by 2 publications

(2 citation statements)

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“…By comparison, a 2003 medical record review of 41 patients with a known PID found 1 or more, 2 or more, and 3 or more warning signs in 95.1%, 78.0%, and 60.1% of patients, respectively, before the diagnosis of an immunodeficiency. 8 The high rate of immunodeficiency diagnoses and associated warning signs is not unexpected in patients with X-linked hypohidrotic ectodermal dysplasia given their known genetic abnormalities in the NEMO signaling pathway. NEMO mutations may manifest as impaired natural killer cell cytotoxicity and impaired CD40 signaling with resultant hypogammaglobulinemia, diminished antibody response to polysaccharide antigens, and elevated IgM levels.…”

Section: Discussionmentioning

confidence: 99%

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Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes

Mark

Becker

Halloran

et al. 2012

Annals of Allergy, Asthma & Immunology

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Background Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes. Objective To determine the prevalence of clinical symptoms suggestive of atopy or immunodeficiency among a large cohort of children with ED syndromes. Methods A 9-page questionnaire was mailed to families who were members of the National Foundation for Ectodermal Dysplasias. The surveys were completed by parents of children younger than 18 years with a diagnosis of an ED syndrome or carrier state. Portions of the questionnaire were adapted from previously validated questionnaires developed by the International Study of Asthma and Allergies in Childhood (ISAAC). Results We received 347 completed questionnaires (41%). When compared with the 13- to 14-year-old children surveyed by ISAAC, we found both all-aged and age-matched children with ED syndromes, respectively, had significantly higher rates of asthma (32.2% and 37.2% vs 16.4%), rhinitis symptoms (76.1% and 78.3% vs 38.9%), and eczema (58.9% and 48.9% vs 8.2%). The prevalence of physician-diagnosed food allergies (20.7%) and PIDs (6.1%) in these ED patients also exceeded known rates in the general pediatric population. Conclusion This large-scale, retrospective study demonstrates a greater reported prevalence of symptoms suggestive of atopic disorders and PIDs among children with ED syndromes than the general pediatric population. A combination of genetic and environmental factors in ED syndromes may contribute to breaches of skin and mucosal barriers, permitting enhanced transmission and sensitization to irritants, allergens, and pathogens.

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Section: Discussionmentioning

confidence: 99%

“…7 Portions of the immunodeficiency section were adapted from the Jeffrey Modell Foundation’s published “10 Warning Signs of Primary Immunodeficiency.” A retrospective study evaluated the presence of these warning signs in patients with PIDs. 8 …”

Section: Methodsmentioning

confidence: 99%