Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum. 2020

Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
Section of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Yale University School of Medicine, 300 Cedar Street, New Haven, CT, 06520, USA.

Although common variable immunodeficiency (CVID) is considered the most prevalent symptomatic primary antibody deficiency (PAD), there is a population with symptomatic PADs that do not meet criteria for CVID. We analyzed clinical and immunological profiles of patients with different PADs to better understand the differences and similarities between CVID and other PADs. We extracted clinical and laboratory data of patients with PADs from electronic medical records. Patients were categorized into CVID, IgG subclass 2 deficiency (IgG2D), IgG deficiency (IgGD), and specific antibody deficiency (sAbD) based on basal immunoglobulin levels and pneumococcal vaccine responses. We compared clinical and immunological characteristics in these groups. All patients, regardless of PAD types, showed similar frequencies of infections, bronchiectasis, and interstitial lung disease (ILD). Hematopoietic malignancies were more frequently found in the CVID than in the IgG2D, IgGD, and sAbD groups, while the latter groups trended towards an increased frequency of connective tissue diseases (CTD). Low counts of natural killer (NK) cells were associated with malignancy, autoimmunity, and ILD in CVID but not in other PAD groups. Higher frequency of hematopoietic malignancy in CVID than in the other PADs and association of lower NK cell counts with non-infectious complications in CVID suggest a relationship between immune alterations and the development of non-infectious manifestations in PADs.

UI MeSH Term Description Entries
D007074 Immunoglobulin G The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B. Gamma Globulin, 7S,IgG,IgG Antibody,Allerglobuline,IgG(T),IgG1,IgG2,IgG2A,IgG2B,IgG3,IgG4,Immunoglobulin GT,Polyglobin,7S Gamma Globulin,Antibody, IgG,GT, Immunoglobulin
D007239 Infections Invasion of the host organism by microorganisms or their toxins or by parasites that can cause pathological conditions or diseases. Infection,Infection and Infestation,Infections and Infestations,Infestation and Infection,Infestations and Infections
D007694 Killer Cells, Natural Bone marrow-derived lymphocytes that possess cytotoxic properties, classically directed against transformed and virus-infected cells. Unlike T CELLS; and B CELLS; NK CELLS are not antigen specific. The cytotoxicity of natural killer cells is determined by the collective signaling of an array of inhibitory and stimulatory CELL SURFACE RECEPTORS. A subset of T-LYMPHOCYTES referred to as NATURAL KILLER T CELLS shares some of the properties of this cell type. NK Cells,Natural Killer Cells,Cell, NK,Cell, Natural Killer,Cells, NK,Cells, Natural Killer,Killer Cell, Natural,NK Cell,Natural Killer Cell
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D001987 Bronchiectasis Persistent abnormal dilatation of the bronchi. Cylindrical Bronchiectasis,Cystic Bronchiectasis,Saccular Bronchiectasis,Varicose Bronchiectasis,Bronchiectases,Bronchiectasis, Cylindrical,Bronchiectasis, Cystic,Bronchiectasis, Saccular,Bronchiectasis, Varicose,Cylindrical Bronchiectases,Cystic Bronchiectases,Saccular Bronchiectases,Varicose Bronchiectases
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000081207 Primary Immunodeficiency Diseases Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations. Congenital Immunodeficiency Disease,Congenital Immunodeficiency Diseases,Congenital Immunodeficiency Disorder,Congenital Immunodeficiency Disorders,Congenital Immunodeficiency Syndrome,Congenital Immunodeficiency Syndromes,Inherited Immunodeficiency Disease,Inherited Immunodeficiency Diseases,Inherited Immunodeficiency Disorder,Inherited Immunodeficiency Disorders,Inherited Immunodeficiency Syndrome,Inherited Immunodeficiency Syndromes,Primary Antibody Deficiencies,Primary Antibody Deficiency Disorder,Primary Antibody Deficiency Disorders,Primary Antibody Deficiency Syndrome,Primary Antibody Deficiency Syndromes,Primary Immune Deficiency,Primary Immune Deficiency Disease,Primary Immune Deficiency Diseases,Primary Immune Deficiency Disorder,Primary Immune Deficiency Disorders,Primary Immune Deficiency Syndrome,Primary Immune Deficiency Syndromes,Primary Immunodeficiency Disease,Primary Immunodeficiency Disorder,Primary Immunodeficiency Disorders,Primary Immunodeficiency Syndromes,Antibody Deficiency, Primary,Deficiency, Primary Immune,Immune Deficiency, Primary,Immunodeficiency Disease, Congenital,Immunodeficiency Disease, Inherited,Immunodeficiency Disease, Primary,Immunodeficiency Diseases, Congenital,Immunodeficiency Diseases, Inherited,Immunodeficiency Diseases, Primary,Immunodeficiency Disorder, Congenital,Immunodeficiency Disorder, Inherited,Immunodeficiency Disorder, Primary,Immunodeficiency Disorders, Congenital,Immunodeficiency Disorders, Inherited,Immunodeficiency Syndrome, Congenital,Immunodeficiency Syndrome, Inherited,Immunodeficiency Syndrome, Primary,Immunodeficiency Syndromes, Congenital,Immunodeficiency Syndromes, Inherited,Immunodeficiency Syndromes, Primary,Inherited Immunodeficiency Syndrome,Primary Antibody Deficiency,Primary Immune Deficiencies,Primary Immunodeficiency Syndrome
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

Related Publications

Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
January 2018, Endocrine, metabolic & immune disorders drug targets,
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
January 2005, Allergologia et immunopathologia,
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
January 2016, The journal of allergy and clinical immunology. In practice,
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
September 2018, European respiratory review : an official journal of the European Respiratory Society,
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
February 2022, Immunologic research,
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
January 2023, Pathogens (Basel, Switzerland),
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
January 2020, Advances in experimental medicine and biology,
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
July 2013, Nature reviews. Immunology,
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
July 1972, Recenti progressi in medicina,
Junghee J Shin, and Daniel Liauw, and Sabrina Siddiqui, and Juhyeon Lee, and Eun Jae Chung, and Ryan Steele, and Florence Ida Hsu, and Christina Price, and Insoo Kang
November 2017, Laboratory medicine,
Copied contents to your clipboard!