Genetic Immunodeficiency Diseases

Abrams, Melissa; Paller, Amy S.

doi:10.1016/j.yadr.2007.08.001

Cited by 5 publications

(4 citation statements)

References 195 publications

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“…This accelerated phase is characterized by the infiltration of nonmalignant lymphoid and histiocytoid cells into the viscera, usually induced by Epstein-Barr virus. Clinical findings include hepatosplenomegaly, lymphadenopathy, and pancytopenia [75]. Impaired humoral and cellular immune responses, including disturbances in B, T, NK, and dendritic cells, along with chronic inflammatory autoimmune diseases, recurrent bacterial infections, and persistent antigenic stimulation, are speculated to favor carcinogenesis in CVID patients.…”

Section: Methodsmentioning

confidence: 99%

Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

et al. 2013

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PurposePatients with primary immunodeficiency diseases (PIDD) may present with recurrent infections affecting different organs, organ-specific inflammation/autoimmunity, and also increased cancer risk, particularly hematopoietic malignancies. The diversity of PIDD and the wide age range over which these clinical occurrences become apparent often make the identification of patients difficult for physicians other than immunologists. The aim of this report is to develop a tool for educative programs targeted to specialists and applied by clinical immunologists.MethodsConsidering the data from national surveys and clinical reports of experiences with specific PIDD patients, an evidence-based list of symptoms, signs, and corresponding laboratory tests were elaborated to help physicians other than immunologists look for PIDD.ResultsTables including main clinical manifestations, restricted immunological evaluation, and possible related diagnosis were organized for general practitioners and 5 specialties. Tables include information on specific warning signs of PIDD for pulmonologists, gastroenterologists, dermatologists, hematologists, and infectious disease specialists.ConclusionsThis report provides clinical immunologists with an instrument they can use to introduce specialists in other areas of medicine to the warning signs of PIDD and increase early diagnosis. Educational programs should be developed attending the needs of each specialty.

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Section: Methodsmentioning

confidence: 99%

Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

et al. 2013

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“…Gorlin syndrome 7 ) or caused by new mutations (e.g. Costello syndrome 8 ); (iii) conditions where primary immunodeficiency leads to both malignancy and cutaneous stigmata; 9 and (iv) a miscellaneous group of syndromes that do not fit this molecular classification. Each syndrome is summarized in Table 1.…”

Section: Dermatological Manifestations Of Inherited Cancer Syndromesmentioning

confidence: 99%

“…There are already two dermatologically oriented reviews of the genetic immunodeficiency diseases 9,75 . We emphasize here those conditions where dermatological findings may help direct early diagnosis and where an increased risk of malignancy exists.…”

Section: Primary Immunodeficienciesmentioning

confidence: 99%

Dermatological manifestations of inherited cancer syndromes in children

Karalis

Tischkowitz

Millington

2011

British Journal of Dermatology

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Various cutaneous signs presenting in childhood, for example café-au-lait macules, may have systemic cancer associations. Indeed, this may be the first manifestation of the underlying cancer predisposition. The syndromes covered in this review fall into four main categories: (i) DNA damage processing defects including Fanconi anaemia, ataxia telangiectasia, Bloom syndrome, Rothmund-Thomson syndrome, constitutional mismatch repair defects and xeroderma pigmentosum; (ii) signalling pathway defects, including naevoid basal cell carcinoma and Costello syndromes; (iii) primary immunodeficiency syndromes; and (iv) syndromes that do not fit this molecular classification, such as X-linked dyskeratosis congenita. This review focuses on the dermatological findings of these conditions. Some of these conditions exhibit a milder heterozygous phenotype and this should be elicited in the family history. Where the dermatological findings are subtle, a targeted family history can provide clues towards making a diagnosis. Nondermatological features of each condition are summarized too, together with molecular testing strategies, which will direct genetic counselling and screening. This review will enable the dermatologist and other clinicians in the early recognition and molecular confirmation of underlying cancer-predisposing syndromes. This allows the possibility of surveillance and prevention strategies to be initiated in a timely manner, in affected children and other at-risk family members.

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“…Regardless of the immunologic profile, all present with similar clinical manifestations, including respiratory tract infections, chronic diarrhea, and failure to thrive. (22) The cutaneous presentation consists of patchy or diffuse exfoliative erythroderma or a generalized seborrhealike dermatitis. Clinical suspicion should prompt a complete immunologic evaluation.…”

Section: Severe Combined Immunodeficiencymentioning

confidence: 99%

Red, Scaly Babies: Neonatal Erythroderma

Bedocs¹,

O’Regan²,

Bruckner³

2011

NeoReviews

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and Bruckner have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/ investigative use of a commercial product/ device. AbstractErythroderma is defined as generalized skin erythema affecting at least 90% of the body. This skin reaction is not specific for one diagnosis. Neonatal erythroderma is potentially life-threatening and presents unique therapeutic and diagnostic challenges. The differential diagnosis is broad, and many of the potential diagnoses are exceedingly rare. Additional clinical or laboratory findings may point to the underlying primary disease, and understanding these clues can expedite establishing the diagnosis. Irrespective of the underlying cause, neonates who have erythroderma have a compromised skin barrier, which can lead to dehydration, electrolyte imbalances, temperature instability, protein losses, and increased risk for infection. This review focuses on an approach to managing erythroderma and reviews the features of several causes of erythroderma.Objectives After completing this article, readers should be able to:1. Appreciate the diversity of disorders that can manifest as neonatal erythroderma. 2. Anticipate the potential complications of erythroderma, including electrolyte disturbances, thermal instability, and sepsis. 3. Direct appropriate evaluations for neonates who have erythroderma. 4. Create a management plan to support affected infants through the neonatal period.

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Genetic Immunodeficiency Diseases

Cited by 5 publications

References 195 publications

Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

Dermatological manifestations of inherited cancer syndromes in children

Red, Scaly Babies: Neonatal Erythroderma

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