Hypogammaglobulinemia in children: What can we learn from disease classifications and patient registries?

E.J.H. Schatorjé

Hypogammaglobulinemia in children: What can we learn from disease classifications and patient registries?

E.J.H. Schatorjé

Research output: Thesis › Doctoral thesis 3 (Research UU / Graduation NOT UU)

Abstract

Childhood is the period of growth and development. This is also true for the immune system, which is inexperienced at birth and gradually expands and matures towards adulthood. Defects anywhere in this process can lead to primary immunodeficiency, causing difficulties in the handling of infections, with primary antibody deficiency as its most common form. In this PhD project, we study the immune system in children. First, we determine age-related reference values of lymphocyte subpopulations, which can be used for interpretation of test results in children. Then, we study the process of maturation by measuring somatic hypermutation in different age groups (a reflection of coordinated reactions to antigens conducted by immune cells). Next, we assess the clinical presentation of children with primary antibody deficiencies in the Netherlands and Europe using the ESID online patient registry. Finally, we describe the association of primary antibody deficiency with chromosomal aberration, which is often missed.

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution
Supervisors/Advisors	de Vries, Esther, Primary supervisor Wulffraat, Nico, Primary supervisor van der Flier, Michiel, Co-supervisor
Award date	14 Dec 2016
Print ISBNs	978-94-6295-540-0
Publication status	Published - 14 Dec 2016

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title = "Hypogammaglobulinemia in children: What can we learn from disease classifications and patient registries?",

abstract = "Childhood is the period of growth and development. This is also true for the immune system, which is inexperienced at birth and gradually expands and matures towards adulthood. Defects anywhere in this process can lead to primary immunodeficiency, causing difficulties in the handling of infections, with primary antibody deficiency as its most common form. In this PhD project, we study the immune system in children. First, we determine age-related reference values of lymphocyte subpopulations, which can be used for interpretation of test results in children. Then, we study the process of maturation by measuring somatic hypermutation in different age groups (a reflection of coordinated reactions to antigens conducted by immune cells). Next, we assess the clinical presentation of children with primary antibody deficiencies in the Netherlands and Europe using the ESID online patient registry. Finally, we describe the association of primary antibody deficiency with chromosomal aberration, which is often missed.",

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T2 - What can we learn from disease classifications and patient registries?

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N2 - Childhood is the period of growth and development. This is also true for the immune system, which is inexperienced at birth and gradually expands and matures towards adulthood. Defects anywhere in this process can lead to primary immunodeficiency, causing difficulties in the handling of infections, with primary antibody deficiency as its most common form. In this PhD project, we study the immune system in children. First, we determine age-related reference values of lymphocyte subpopulations, which can be used for interpretation of test results in children. Then, we study the process of maturation by measuring somatic hypermutation in different age groups (a reflection of coordinated reactions to antigens conducted by immune cells). Next, we assess the clinical presentation of children with primary antibody deficiencies in the Netherlands and Europe using the ESID online patient registry. Finally, we describe the association of primary antibody deficiency with chromosomal aberration, which is often missed.

AB - Childhood is the period of growth and development. This is also true for the immune system, which is inexperienced at birth and gradually expands and matures towards adulthood. Defects anywhere in this process can lead to primary immunodeficiency, causing difficulties in the handling of infections, with primary antibody deficiency as its most common form. In this PhD project, we study the immune system in children. First, we determine age-related reference values of lymphocyte subpopulations, which can be used for interpretation of test results in children. Then, we study the process of maturation by measuring somatic hypermutation in different age groups (a reflection of coordinated reactions to antigens conducted by immune cells). Next, we assess the clinical presentation of children with primary antibody deficiencies in the Netherlands and Europe using the ESID online patient registry. Finally, we describe the association of primary antibody deficiency with chromosomal aberration, which is often missed.

M3 - Doctoral thesis 3 (Research UU / Graduation NOT UU)

SN - 978-94-6295-540-0

ER -

Hypogammaglobulinemia in children: What can we learn from disease classifications and patient registries?

Abstract

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