Eczema and X-linked agam.maglobulinaemia

Hunter, Helen; McKenna, Kevin E.; Edgar, J. D. M.

doi:10.1111/j.1365-2230.2007.02582.x

Cited by 14 publications

(7 citation statements)

References 9 publications

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“…Patients present with a marked reduction in all serum immunoglobulin isotypes with significantly decreased or absent B cells in peripheral blood and a lack of specific antibody production, which causes susceptibility to recurrent and severe bacterial infections [1, 27]. Association between XLA and eczema, as observed in patient 6, is not often described but there are reports showing that it can affect some patients and the cause is unknown [28]. …”

Section: Discussionmentioning

confidence: 99%

Primary Immunodeficiency May Be Misdiagnosed as Cow’s Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital

et al. 2013

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Introduction. The presence of eczema and gastrointestinal manifestations are often observed in cow's milk allergy (CMA) and also in some primary immunodeficiency diseases (PID). Objective. To describe 7 patients referred to a tertiary allergy/immunology Center with a proposed diagnosis of CMA, who were ultimately diagnosed with PID. Methods. This was a retrospective study based on clinical and laboratory data from medical records. Results. Seven patients (6 males) aged between 3 mo and 6 y were referred to our clinic with a proposed diagnosis of CMA. They presented with eczema and/or gastrointestinal symptoms. Five were receiving replacement formula. All patients presented with other clinical features, including severe/recurrent infections unrelated to CMA, and two of them had a positive family history of PID. Laboratory tests showed immune system dysfunctions in all patients. Hyper-IgE and Wiskott-Aldrich syndromes, CD40L deficiency, severe combined immunodeficiency, X-linked agammaglobulinemia, transient hypogammaglobulinemia of infancy, and chronic granulomatous disease were diagnosed in these children. In conclusion, allergic diseases and immunodeficiency are a result of a different spectrum of abnormalities in the immune system and may be misdiagnosed. Educational programs on PID among clinical physicians and pediatricians can reduce the occurrence of this misdiagnosis.

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Section: Discussionmentioning

confidence: 99%

Primary Immunodeficiency May Be Misdiagnosed as Cow’s Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital

et al. 2013

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“…The severe immunoglobulin deficiency of XLA should significantly decrease the risk of autoimmune manifestations in this disease, yet up to 15% of XLA patients may present different autoimmune manifestations including arthritis, diabetes, hemolytic anemia, scleroderma, and alopecia [27][28][29][30][31]. The pathophysiology of these remains poorly defined.…”

Section: Immunodysregulation Polyendocrinopathy and Enteropathy X-mentioning

confidence: 97%

X-linked primary immunodeficiencies as a bridge to better understandingX-chromosome related autoimmunity

Pessach

Notarangelo

2009

Journal of Autoimmunity

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“…3. X-linked agammaglobulinemia: characterized by eczema and associated with heightened risk for gastric and colorectal cancers (Hunter, McKenna, & Edgar, 2008).…”

Section: Immune System Defectsmentioning

confidence: 99%

Dermatologic Manifestations of Cancer Syndromes

Goldenberg

Jacob

2015

Journal of the Dermatology Nurses' Association

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Familial hereditary cancer syndromes are a group of rare disorders affecting both children and adults. Many of these syndromes are characterized by prominent cutaneous findings, which may help alert clinicians to possible underlying malignancies. Early detection and treatment of these conditions are vital for cancer prevention; thus, clinician knowledge and awareness of the common cutaneous findings is essential. The syndromes may be grouped by their modes of inheritanceVautosomal or X-linked and dominant or recessiveVas well as by the category of genetic mutationVDNA repair, signaling pathway, immunodeficiency, or other defects. Herein, we present a summary of general principles of inheritance and an overview of the genetic defects, modes of inheritance, and the dermatologic manifestations of 42 distinctive hereditary neoplastic syndromes to help promote awareness and enhance early diagnosis.

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Eczema and X-linked agam.maglobulinaemia

Cited by 14 publications

References 9 publications

Primary Immunodeficiency May Be Misdiagnosed as Cow’s Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital

Primary Immunodeficiency May Be Misdiagnosed as Cow’s Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital

X-linked primary immunodeficiencies as a bridge to better understandingX-chromosome related autoimmunity

Dermatologic Manifestations of Cancer Syndromes

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