The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the "Practice parameter for the diagnosis and management of primary immunodeficiency." This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion.

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Practice parameter for the diagnosis and management of primary immunodeficiency

Current status of newborn screening worldwide: 2015

Ed Lori B Andrews, Jane E Fullarton, Neil A Holtzman, Arno G Motulsky National Academy Press, £28.95, pp 338 ISBN 0-309-04798-6

Genetic screening tends to serve as a flypaper on which our hovering fears of a Brave New World alight and stick. In the future of all-conquering genetic technology, who should be screened for what and by whom? Here is a dense report, compiled by a committee of the great and the good, with hundreds of recommendations for action and inaction. How much …

Assessing Genetic Risks: Implications for Health and Social Policy

SY Pai, BR Logan, LM Griffith. N Engl J Med. 2014;371(5):434–446

To evaluate the outcome of hematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID) treated in North America between 2000 and 2009 based on data collected by the Primary Immune Deficiency Treatment Consortium.

Two hundred forty infants with SCID treated with HSCT at 25 centers during this 10-year period.

This was a retrospective study based on data entry into defined forms through the Primary Immune Deficiency Treatment Consortium. Each patient entry was reviewed by 3 content experts and classified as eligible versus not eligible on the basis of defined criteria required to meet the diagnosis of SCID. Transplant information was provided …

Transplantation Outcomes for Severe Combined Immunodeficiency 2000–2009

The purpose of newborn screening is early detection of inborn conditions for which prompt treatments mitigate mortality or irreversible damage. The first heritable immune disorders to which newborn screening has been applied are those that together comprise severe combined immunodeficiency (SCID), caused by defects in any of a diverse group of gene products essential for development of adaptive immunity provided by T and B lymphocytes.1,2 A feature of all SCID is defective production of T cells. In most SCID, B cells are also defective, but even normal B cells cannot produce antibodies without T-cell help. Thus, infants with SCID are susceptible to life-threatening infections. Early detection and treatment optimize survival.3-5 Provided that SCID is diagnosed before infections become overwhelming, affected infants can be rescued with hematopoietic stem cell transplantation; gene therapy; or, for adenosine deaminase deficiency, enzyme replacement therapy.2,5-8

Population-based screening is the only means to detect SCID prior to the onset of infections in most cases, as more than 80% lack a positive family history.9,10 T-cell receptor excision circles (TRECs), a biomarker for T lymphopoiesis,11 can be measured by polymerase chain reaction (PCR) using DNA isolated from infant dried blood spots collected for newborn screening.9 Dried blood spots from apparently healthy newborns who were later diagnosed with SCID lacked TRECs.9 Confirmation of the utility of the TREC test,12 adaptation for pilot newborn screening programs in Wisconsin13 and Massachusetts,14 and an evidence-based review led to the recommendation by the US Department of Health and Human Services Secretary in 2010 that SCID be added to the Uniform Screening Panel for all newborns, with related T-cell deficiencies added to the list of secondary targets.15 Currently, 23 states, the District of Columbia, and the Navajo Nation screen approximately two-thirds of all infants born in the United States for SCID. Individual states have confirmed detection of SCID as well as additional disorders with low T-cell numbers, which also may benefit from further assessment of immune dysfunction and from protective treatments.13,16-18 Here we present the first combined analysis of more than 3 million infants screened for SCID in 10 states and the Navajo Nation, providing a population-based overview of SCID and non-SCID T-cell lymphopenia.

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Arye Rubenstein

Papers

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States