Job’s syndrom. Case reports

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Abstract

Primary immunodeficiencies with impaired humoral link are genetically determined diseases characterized by impaired antibody formation. The article presents information about an orphan disease – hyperimmunoglobulinemia E syndrome (hyper-IgE), or Job’s syndrome, which is characterized by elevated IgE levels in the blood serum, recurrent infections and various clinical manifestations (specific abnormalities of connective tissue, skeleton, tooth enamel, neurological disorders, etc.). Historical aspects of Job’s syndrome are described, the importance of immunoglobulins E in the human immune system is shown. It is noted that genetic testing, including sequencing of the STAT3 and DOCK8 genes, plays a decisive role in confirming the diagnosis. Low prevalence of Job’s syndrome is the reason for late diagnosis. Clinical cases of Job’s syndrome, a variant of primary immunodeficiency confirmed genetically, are presented.

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About the authors

Irina N. Zakharova

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru
ORCID iD: 0000-0003-4200-4598

D. Sci. (Med.), Prof.

Russian Federation, Moscow

Narine G. Sugian

Russian Medical Academy of Continuous Professional Education; Khimki Hospital

Author for correspondence.
Email: narine6969@mail.ru
ORCID iD: 0000-0002-2861-5619

Cand. Sci. (Med.)

Russian Federation, Moscow; Khimki

Irina V. Berezhnaya

Russian Medical Academy of Continuous Professional Education

Email: narine6969@mail.ru
ORCID iD: 0000-0002-2847-6268

Cand. Sci. (Med.)

Russian Federation, Moscow

Viktoria V. Pupykina

Russian Medical Academy of Continuous Professional Education

Email: vika-pupykina@mail.ru
ORCID iD: 0000-0003-2181-8138

Graduate Student

Russian Federation, Moscow

References

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2. Fig. 1. IgE structure and activation of effector cells. MC – mast cell, BAS – basophils (adapt. from [5]).

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3. Fig. 2. «The Book of Job».

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4. Fig. 3. Satan striking Job with plagues. An illustration by William Blake for «The Book of Job».

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5. Fig. 4. The painting «Job and his friends». 1869. I.E. Repin. The State Russian Museum of Saint Petersburg.

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6. Fig. 5. «Cold» abscess of the soft tissues of the axillary region [8].

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7. Fig. 6. Extensive erythematous lesions in the groin area, spreading to the lower extremity in hyper-IgE syndrome with a mutation in the STAT3 gene [11].

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8. Fig. 7. Lesion of the oral mucosa and gums in patients with hyper-IgE syndrome (adapt. from [12]).

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9. Fig. 8. Dental changes in patients with hyper-IgE syndrome [13].

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10. Fig. 9. Characteristic facial features of men and women of different races with hyper-IgE syndrome [13].

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11. Fig. 10. Clinical manifestations of autosomal recessive hyper-IgE syndrome in two brothers from a Chinese family with a mutation in the DOCK8 gene (adapt. from [14]).

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12. Fig. 11. Anamnesis of the disease of the children K.

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13. Fig. 12. Skin changes from 3-weeks of age of baby E.

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