A 27-year-old man with recurrent sinopulmonary and cutaneous infections

The increasing availability of genetic testing for modern immunologists in the evaluation of immune diseases could provide a definite diagnosis in elusive cases. A 27-year-old white male patient presented to the clinic with recurrent sinopulmonary and cutaneous infections since childhood. The patien...

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Veröffentlicht in:Allergy and asthma proceedings 2020-05, Vol.41 (3), p.218-223
Hauptverfasser: Wu, Shan Shan, Sanan, Neha, Schend, Jason, Rowane, Marija, Hostoffer, Robert W.
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container_end_page 223
container_issue 3
container_start_page 218
container_title Allergy and asthma proceedings
container_volume 41
creator Wu, Shan Shan
Sanan, Neha
Schend, Jason
Rowane, Marija
Hostoffer, Robert W.
description The increasing availability of genetic testing for modern immunologists in the evaluation of immune diseases could provide a definite diagnosis in elusive cases. A 27-year-old white male patient presented to the clinic with recurrent sinopulmonary and cutaneous infections since childhood. The patient's mother had seronegative polyarthritis, and one of two sisters of the patient had chronic sinopulmonary infections. Serum immunoglobulins, immunoglobulin G (IgG) subclasses, lymphocyte subset markers, mannose-binding lectin, mitogen and antigen stimulation, bacteriophage study, and Streptococcus pneumoniae titers to 23 serotypes were all normal. B-cell phenotyping revealed a decrease in both nonswitched memory B cells (CD19+CD27+IgD+) and switched memory B-cells (CD19+CD27+IgD−). Genetic testing and the improvement of clinical symptoms after IgG replacement led to the final diagnosis.
doi_str_mv 10.2500/aap.2020.41.190026
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A 27-year-old white male patient presented to the clinic with recurrent sinopulmonary and cutaneous infections since childhood. The patient's mother had seronegative polyarthritis, and one of two sisters of the patient had chronic sinopulmonary infections. Serum immunoglobulins, immunoglobulin G (IgG) subclasses, lymphocyte subset markers, mannose-binding lectin, mitogen and antigen stimulation, bacteriophage study, and Streptococcus pneumoniae titers to 23 serotypes were all normal. B-cell phenotyping revealed a decrease in both nonswitched memory B cells (CD19+CD27+IgD+) and switched memory B-cells (CD19+CD27+IgD−). Genetic testing and the improvement of clinical symptoms after IgG replacement led to the final diagnosis.</abstract><cop>United States</cop><pub>OceanSide Publications, Inc</pub><pmid>32375967</pmid><doi>10.2500/aap.2020.41.190026</doi><tpages>6</tpages></addata></record>
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subjects Ala181glu
Antigens
Asymptomatic
B-Cell Dysfunction
Baff
Case reports
CD19 antigen
CD27 antigen
Children
Common Variable Immunodeficiency (cvid)
Diagnosis
Genetic screening
Heterozygous Mutation
IgG antibody
Immunoglobulin D
Immunoglobulin G
Immunoglobulins
Immunological diseases
Immunological memory
Infections
Lymphocytes
Lymphocytes B
Mannose
Mannose-binding lectin
Medical diagnosis
Memory cells
Mens health
Normal Immunoglobulins
Patients
Phages
Phenotyping
Polyarthritis
Recurrent Infections
Serotypes
Signs and symptoms
Skin diseases
Streptococcus infections
Taci
TNFRSF13B
title A 27-year-old man with recurrent sinopulmonary and cutaneous infections
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