Primary Immunodeficiencies: A 27-Year Review at a Tertiary Paediatric Hospital in Cape Town, South Africa

Naidoo, R; Ungerer, Lisa; Cooper, Margaret; Pienaar, Sandra; Eley, Brian

doi:10.1007/s10875-010-9465-7

Cited by 39 publications

(39 citation statements)

References 18 publications

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“…This trend was also reported in other studies from Kuwait [16], outh Africa [17] and India [18]. In renowned PID regis-S ies, predominantly antibody deficiency category was…”

Section: Discussionsupporting

confidence: 84%

Effects of family history and consanguinity in primary immunodeficiency diseases in children in Qatar

Ehlayel¹,

Bener²,

Laban³

2013

OJI

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Background: The high consanguinity in Middle East increases the risk of genetic diseases, including primary immunodeficiency diseases (PIDConclusions: This study indicates that family history is common in children with PID and helpful in reducing the delay age. Consanguinity among families of affected children is also high (higher than healthy population). Paternal parallel cousin marriages are the most common type of consanguinity. For a practicing physician, family history is a simple and useful tool when suspecting PID in children. Primary prevention of PID in Middle East communities should consider consanguinity reduction through public awareness and education and premarital counseling programs.

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“…This trend was also reported in other studies from Kuwait [16], outh Africa [17] and India [18]. In renowned PID regis-S ies, predominantly antibody deficiency category was…”

Section: Discussionsupporting

confidence: 84%

Effects of family history and consanguinity in primary immunodeficiency diseases in children in Qatar

Ehlayel¹,

Bener²,

Laban³

2013

OJI

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“…However, fewer than 500 PID cases have been reported in SA. [4,5] The almost 300 patients in the SA National PID Registry reflect deficiencies similar to those in European and US data, with the majority due to antibody deficiencies. Respiratory infections are the most common presenting symptom and a positive family history is recorded in 30%.…”

mentioning

confidence: 88%

Investigation and management of primary immunodeficiency in South African children

Eley

Esser

2014

S Afr Med J

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The primary immunodeficiency diseases (PIDs) are inherited, non-communicable diseases that cause immunological dysfunction. PIDs are seldom reported in South Africa (SA). Based on a mid-2013 population estimate of 52.98 million and assuming that the prevalence of PIDs is similar to that in well-resourced settings, the total number of individuals with PIDs in our country should range between 2 850 and 45 723. However, fewer than 500 cases of PID have been reported in SA. Between five and 15 new, fully characterised PIDs are reported annually. Our understanding of the physiology of the immune system has been substantially enhanced by these discoveries, and consequently the international classification of PIDs has been updated.

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“…C2 and C4 deficiencies are associated with SLE‐like syndromes, which may manifest as AIHA, immune neutropenia, and thrombocytopenia. National registries indicate that as many as 10% of all primary immunodeficiencies are due to complement deficiencies . It is becoming apparent that complement dysregulation and deficiency has a wide range of clinical manifestations, and may in fact be more common than previously believed .…”

Section: Laboratory Testing In Clinical Diseases Involving Complementmentioning

confidence: 99%

Laboratory tests for disorders of complement and complement regulatory proteins

Shih

Murali

2015

American J Hematol

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The complement pathway is a cascade of proteases that is involved in immune surveillance and innate immunity, as well as adaptive immunity. Dysfunction of the complement cascade may be mediated by aberrations in the pathways of activation, complement regulatory proteins, or complement deficiencies, and has been linked to a number of hematologic disorders, including paroxysmal noctural hemoglobinuria (PNH), hereditary angioedema (HAE), and atypical hemolytic-uremic syndrome (aHUS). Here, current laboratory tests for disorders of the complement pathway are reviewed, and their utility and limitations in hematologic disorders and systemic diseases are discussed. Current therapeutic advances targeting the complement pathway in treatment of complement-mediated hematologic disorders are also reviewed.

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Primary Immunodeficiencies: A 27-Year Review at a Tertiary Paediatric Hospital in Cape Town, South Africa

Abstract: The spectrum of PID in South Africa was similar to international trends. The declining mean age of diagnosis indicated improved recognition of PID. Future research should focus on identifying children with PID more effectively.

Cited by 39 publications

References 18 publications

Effects of family history and consanguinity in primary immunodeficiency diseases in children in Qatar

Effects of family history and consanguinity in primary immunodeficiency diseases in children in Qatar

Investigation and management of primary immunodeficiency in South African children

Laboratory tests for disorders of complement and complement regulatory proteins

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