Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic granulomatous disease, and Wiskott-Aldrich syndrome. While such progress has widened the choice of therapeutic options in some specific cases of primary immunodeficiency, much remains to be done to extend the geographical availability of such an advanced approach and to increase the number of diseases that can be targeted. At the same time, emerging technologies are stimulating intensive investigations that may lead to the application of precise genetic editing as the next form of gene therapy for these and other human genetic diseases.

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Faculty Opinions recommendation of Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.12845956.14133054 ◽

2011 ◽

Author(s):

Sung-Yun Pai

Keyword(s):

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Atypical Severe Combined Immunodeficiency

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Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

Case Reports in Medicine ◽

10.1155/2011/527569 ◽

2011 ◽

Vol 2011 ◽

pp. 1-5 ◽

Cited By ~ 9

Author(s):

Sílvia Bacalhau ◽

Cristina Freitas ◽

Rosalina Valente ◽

Deolinda Barata ◽

Conceição Neves ◽

...

Keyword(s):

Mycobacterium Tuberculosis ◽

Primary Immunodeficiency ◽

Mycobacterium Bovis ◽

Severe Combined Immunodeficiency ◽

Vaccination Strategy ◽

Bcg Vaccine ◽

Bacillus Calmette Guerin ◽

Combined Immunodeficiency ◽

High Burden ◽

Life Threatening

In high-burden countries,Mycobacterium bovisBacillus Calmette-Guérin (BCG) vaccine is administered in newborn to prevent severeMycobacterium tuberculosisinfection. Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. We report the case of a patient with X-linked severe combined immunodeficiency (SCID) who developed disseminated BCG disease, highlighting the specific strategies adopted.

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Fatal Cholestatic Hepatitis in an Infant: An Unusual Etiology

Canadian Journal of Gastroenterology ◽

10.1155/1995/649852 ◽

1995 ◽

Vol 9 (4) ◽

pp. 217-220

Author(s):

Mark R Oliver ◽

Alfredo Pinto ◽

R Brent Scott

Keyword(s):

Primary Immunodeficiency ◽

Severe Combined Immunodeficiency ◽

Adenovirus Type ◽

Hepatic Necrosis ◽

Postmortem Examination ◽

Fulminant Liver Failure ◽

Combined Immunodeficiency ◽

Adenoviral Infection ◽

Infant Girl ◽

Adenovirus Type 5

An infant girl who presented with cholestasis and hepatitis that rapidly progressed to fulminant liver failure is reported. Postmortem examination yielded a diagnosis of demonstrated extensive hepatic necrosis due to adenovirus type 5 infection which had developed in the setting of an occult primary immunodeficiency (severe combined immunodeficiency). The aim of this report is to alert the physician to a rare cause of cholestasis and hepatitis in infancy. Recognition of the combination of adenoviral infection with underlying primary immunodeficiency is a prerequisite to the provision of genetic counselling.

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Federal clinical guidelines. Primary immunodeficiency: severe combined immunodeficiency

Rossiiskii Allergologicheskii ZHurnal ◽

10.36691/rja1381 ◽

2020 ◽

Vol 17 (3) ◽

pp. 97-114

Author(s):

Yulia A. Rodina ◽

Elena V. Deripapa ◽

Alexandra L. Laberko ◽

Dmitry E. Pershin ◽

Ekaterina V. Kalinina ◽

...

Keyword(s):

Stem Cell ◽

Hematopoietic Stem Cell Transplantation ◽

Early Diagnosis ◽

Primary Immunodeficiency ◽

Severe Combined Immunodeficiency ◽

Complex Treatment ◽

Combined Immunodeficiency ◽

Hematopoietic Stem ◽

Family Counselling ◽

Life Threatening

Severe combined immunodeficiency (SCID) is the most life-threatening form of primary immunodeficiency, fatal within the first years of life if hematopoietic stem cell transplantation (HSCT) is not performed. Early diagnosis is crucial for prevention of multiple life-threatening complications, which in turn allows for successful HSCT. Current publication contains clinical recommendations for diagnosis of SCID and its complications, complex treatment, including HSCT, prenatal diagnostics and genetic family counselling.

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Clinical and Laboratory Characteristics of Primary Immunodeficiency Patients from a Tertiary Care Center in Pakistan

Journal of the Pakistan Medical Association ◽

10.47391/jpma.512 ◽

2020 ◽

pp. 1-15

Author(s):

Hamid Nawaz Tipu ◽

Dawood Ahmed

Keyword(s):

Primary Immunodeficiency ◽

Clinical Presentation ◽

Care Center ◽

Tertiary Care ◽

Severe Combined Immunodeficiency ◽

Laboratory Data ◽

Genetic Diagnosis ◽

Warning Signs ◽

Combined Immunodeficiency ◽

Phagocytic Defects

Abstract Objective: The aim of this study was to describe and identify clinical presentation of primary immunodeficiency disorders (PIDs). Characteristic quantitative and qualitative immunological abnormalities have been described which help in establishing a definitive PID diagnosis. Methods: Cross sectional study in Immunology department, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from Jan 2016 to Dec 2018. Sixty patients of different PIDs including humoral defects, combined immunodeficiency, phagocytic defects and other miscellaneous disorders, were diagnosed over a period of 3 years in our institute. Their clinical presentation and laboratory data are presented in this study. Results: In 3 years, 40 (66%) males and 20 (33%) females were diagnosed, with 13 (21.6%) patients of humoral deficiency, 22 (36.6%) of severe combined immunodeficiency, 18 (30%) of phagocytic defects and 7 (11.6%) of other miscellaneous disorders. Maximum patients belonged to Punjab province, i.e., 23 (38.3%). Their mean age for initiation of symptoms was 7 + 12.6 months, while diagnosis was made at mean age of 26 + 39.28 months, in all groups combined. Respiratory infections were commonest presentation, in 46 (76.6%) patients. Also 46 (76.6%) patients had consanguineous parents. Presence of family history of PID in 27 (45%) patients is not associated with an earlier diagnosis (p 0.955). Each group of patients carried characteristic laboratory findings. Conclusion: PIDs should be suspected in offsprings with warning signs coming from consanguineous parents. There is a need to introduce genetic diagnosis of PIDs in order to timely diagnose less characteristic PID presentations. Continuous...

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