Clinical Case of Job Syndrome in Infant-Reference-Cited by-同舟云学术

Clinical Case of Job Syndrome in Infant

Published:2022-05-17 Issue:2 Volume:19 Page:115-118
ISSN:2500-3089
Container-title:Pediatric pharmacology
language:
Short-container-title:Pediatr. farmakol.

Author:

Alexeeva Elena N.¹^ORCID,Besedina Marina V.²^ORCID,Zaytseva Olga V.²,Tolstova Evgenia M.¹^ORCID,Benalieva Niyra F.³^ORCID

Affiliation:

1. Moscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of Healthcare

2. Moscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of Healthcare; Children's State Hospital of St. Vladimir

3. Children's State Hospital of St. Vladimir

Abstract

The article presents clinical case of Job syndrome, variant of primary immune deficiency disease confirmed genetically. This case is interesting for its early diagnosis due to comprehensive assessment of anamnestic, clinical, and laboratory data. Such typical phenotypic features as facial dysmorphisms, recurrent localized purulent infections, and laboratory parameters (absolute neutropenia and eosinophilia) were the major signs of autosomal dominant hyper IgE syndrome in a child with normal IgE levels. The combination of 2 heterozygous mutations in STAT3 gene inherited from his father and his mother has played its role in disease clinical features in the child.

Publisher

Paediatrician Publishers LLC

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

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