Genetic diagnosis of primary immune deficiencies.

  title={Genetic diagnosis of primary immune deficiencies.},
  author={M G Morra and Ute Geigenmuller and John Curran and Irene R Rainville and Tim Brennan and Judd M. Curtis and Vienna Reichert and Hayk Hovhannisyan and Joseph A. Majzoub and David T. Miller},
  journal={Immunology and allergy clinics of North America},
  volume={28 2},
          387-412, x

Primary immune deficiency disorders in the South Pacific: the clinical utility of a customized genetic testing program in New Zealand

The clinical indications for genetic testing for PIDs based on cases referred to the molecular immunology diagnostic service at Auckland City Hospital are reviewed.

The Role of the Infectious Disease Specialist in the Diagnosis and Treatment of Primary Immunodeficiency Disease

An increased awareness of the signs and symptoms of PIDD, an understanding of appropriate referral, and effective treatment are essential to improving the health and quality of life of patients with PIDD.

Family Physician Perspectives on Primary Immunodeficiency Diseases

Differences in how family practice physicians and subspecialist immunologists manage patients with PID underscore areas where improved educational and training initiatives may benefit patient care.

Health-related quality of life in patients with primary immunodeficiency disease

It appears that many patients appreciate home-based and subcutaneous IgG replacement therapy, and therapy adjustments can be made to maximize patient well-being and minimize disease impact on daily functioning by further analyzing what factors impact HRQOL.

Common Variable Immunodeficiency in New Zealand - Finding the Molecular and Cellular Foundations

The present study focused on the development of candidate genes for CVID, which aims to find out the carrier and removal status of Interleukin-15 receptor-α, which is currently in use in women.

Síndrome de Hermansky-Pudlak: Expresión clínica variable en dos casos clínicos

El sindrome de Hermansky-Pudlak es un padecimiento genetico caracterizado por albinismo y hemorragias, en grado variable, por alteraciones en the estructura of las plaquetas, que puede evitar el desarrollo of complicaciones o limitar su evolucion.

The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review

  • R. AmeratungaS. WoonK. NeasD. Love
  • Medicine, Biology
    Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
  • 2010
The clinical utility of molecular testing for primary immune deficiency disorders is outlined using clinical cases referred to Auckland Hospital from the perspective of a laboratory offering a wide range of tests for a small developed country.



Primary immune deficiencies unravel the molecular basis of immune response.

Since the very first cases reported in humans, primary immune deficiencies have represented a unique tool to investigate the efficacy of novel therapeutic approaches, that have been applied or may apply to a variety of more common human diseases.

Genetic testing in primary care.

  • W. Burke
  • Medicine
    Annual review of genomics and human genetics
  • 2004
A partnership between medical genetics and primary care will help to ensure the development of effective policies, educational tools, and practice guidelines for the coming era of genomic health care.

Variable phenotypic expression of mutations in genes of the immune system.

  • R. Buckley
  • Biology
    The Journal of clinical investigation
  • 2005
This issue of the JCI, de Villartay et al. describe a third phenotype for mutations in recombination activating gene 1 (RAG1), in addition to the already known phenotypes of SCID and Omenn syndrome.

The molecular pathology of primary immunodeficiencies.

Immunological and genetic bases of new primary immunodeficiencies

A series of primary defects of innate immunity have recently been discovered and are discussed here and recently discovered monogenic immunodeficiencies that disturb the homeostasis of both the innate and the adaptive immune systems are discussed.

2. Update on primary immunodeficiency diseases.

  • F. BonillaR. Geha
  • Medicine, Biology
    The Journal of allergy and clinical immunology
  • 2006

Primary immunodeficiencies.

Early recognition and diagnosis can alter the course of primary immunodeficiencies significantly and have a positive effect on patient outcome.

Molecular approaches in the diagnosis of primary immunodeficiency diseases†

It is suggested that a sensitive and economical approach to mutation detection could be the direct sequencing of cDNA followed by the confirmatory sequencing of the corresponding exon.

Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update

A multi-stage diagnostic protocol that is based on expert opinion, in order to increase the awareness of primary immunodeficiency disease among doctors working in different fields, designed for use throughout Europe.