An audit of lymphopenia in infants under 3 months of age

Krishna, Mamidipudi Thirumala; Tarrant, Julie; Cheadle, Emily; Noorani, Sadia; Hackett, Scott; Huissoon, Aarnoud

doi:10.1136/adc.2007.123497

Cited by 8 publications

(9 citation statements)

References 2 publications

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Section: Screening For Scidmentioning

confidence: 99%

“…While often overlooked, an absolute lymphocyte count of less than 3,000 c/mm 3 should trigger suspicion of SCID 33,34. Unfortunately, the complete blood count is neither sensitive nor specific for SCID 33. Assays to detect other biomarkers of T-cell lymphopenia (high IL-7 levels or low CD3 protein levels) have been proposed but not validated using NBS cards 35–37…”

Section: Screening For Scidmentioning

confidence: 99%

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Screening for severe combined immunodeficiency in neonates

Kelly¹,

Tam²,

Verbsky³

et al. 2013

CLEP

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Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diagnosis essential. Definitive treatment is hematopoietic stem cell transplantation, with best outcomes prior to 3.5 months of age. Newborn screening for SCID using the T-cell receptor excision circle assay has revolutionized early identification of infants with SCID or severe T-cell lymphopenia.

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Section: Screening For Scidmentioning

confidence: 99%

Section: Screening For Scidmentioning

confidence: 99%

Screening for severe combined immunodeficiency in neonates

Kelly¹,

Tam²,

Verbsky³

et al. 2013

CLEP

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“…Lymphopaenia is often seen in children presenting to general paediatricians. A retrospective audit identified lymphopaenia in 3% of all infants with a full blood count (performed for a variety of reasons) in a district general hospital over 2 years 26. There was no evidence that SCID was considered in any of these despite nine patients having clinical features consistent with possible SCID (although none were retrospectively diagnosed with SCID).…”

Section: Common Investigations and Their Interpretationmentioning

confidence: 99%

Republished: Immune deficiencies in children: an overview

Samanth¹,

Lissauer

Welch

et al. 2013

Postgraduate Medical Journal

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Primary immune deficiencies (PIDs) are disorders of the immune system that result in increased susceptibility to infectious disease, autoimmunity and malignancy. They are challenging to paediatricians as they can present anytime from birth to adolescence with a wide variety of signs and symptoms. It is important to diagnose PIDs promptly, especially more severe forms to prevent significant morbidity and mortality. However, significant challenges exist in deciding which children to investigate and when. We aim to give a basic understanding of the human immune system, the different presentations in a child that should alert a paediatrician about the possibility of PID and the possible underlying diagnosis. Additionally, we have developed a framework for a stepwise approach to investigating these children.

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“…Lymphocyte count: Persistent unexplained lymphocytopenia is often ignored, but may be a key clue suggesting PID23 particularly in the first few months of life. Severe Combined Immune Deficiency (SCID) often leads to pan-lymphocytopenia, but selective deficiencies in one or other subset (eg, T-cell deficiency or selective CD4 T-cell deficiency) can be masked within a normal total count.…”

Section: Introductionmentioning

confidence: 99%

“…Similarly, autoimmune haemolytic anaemia and autoimmune neutropenia can be presenting features of immunodeficiency 23. In addition to considering lupus and other plausible autoimmune pathologies for cytopenias, HIV and PID diagnoses, such as common variable immune deficiency (CVID) should also enter the differential.…”

Section: Introductionmentioning

confidence: 99%

Laboratory clues to immunodeficiency; missed chances for early diagnosis?

et al. 2014

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Primary immunodeficiency is seen in an estimated one in 1200 people, and secondary immunodeficiency is increasingly common, particularly with the use of immunosuppresion, cancer therapies and the newer biological therapies such as rituximab. Delays in the diagnosis of immunodeficiency predictably lead to preventable organ damage. Examples of abnormal pathology tests that suggest immunodeficiency from all laboratory specialities are given, where vigilant interpretation of abnormal results may prompt earlier diagnosis. If immunodeficiency is suspected, suggested directed testing could include measuring immunoglobulins, a lymphocyte count and T-cell and B-cell subsets.

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An audit of lymphopenia in infants under 3 months of age

Cited by 8 publications

References 2 publications

Screening for severe combined immunodeficiency in neonates

Screening for severe combined immunodeficiency in neonates

Republished: Immune deficiencies in children: an overview

Laboratory clues to immunodeficiency; missed chances for early diagnosis?

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