Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation—Case Report

Urdinez, Luciano; Goris, Veronica; Danielian, Silvia; Oleastro, Matías; Pérez, Guadalupe; Torres, Natalia H.; Marti, Jéssica López; Izaguirre, Maria Jose

doi:10.1007/s10875-022-01359-6

Cited by 2 publications

(2 citation statements)

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“…14 To the best of our knowledge, this series describes pulmonary tuberculosis infection for the first time in a patient with DOCK8-Def; within the IEIs that present with elevated IgE, TYK2 deficiency has been related to susceptibility to M. tuberculosis, other IEIs are extraordinarily associated with complications due to M. tuberculosis, BCG or nontuberculous mycobacterial. 19,20 Severe infections, a recognized red flag for IEI suspicion, were the leading cause of death in our series. Rigorous monitoring, early diagnosis, timely treatment, and swift referral to specialized centers will improve prognosis.…”

Section: Giardia Lambliamentioning

confidence: 79%

“…To the best of our knowledge, this series describes pulmonary tuberculosis infection for the first time in a patient with DOCK8‐Def; within the IEIs that present with elevated IgE, TYK2 deficiency has been related to susceptibility to M. tuberculosis , other IEIs are extraordinarily associated with complications due to M. tuberculosis , BCG or nontuberculous mycobacterial 19,20 …”

Section: Discussionmentioning

confidence: 92%

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Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency

Liquidano‐Perez,

Maza‐Ramos,

Perez Arias

et al. 2024

Pediatric Allergy Immunology

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PurposeWe aimed to describe the clinical, immunological, and genetic features of patients with DOCK8 deficiency (DOCK8‐Def) in a tertiary care center for children.MethodsRetrospective chart review of patients' clinical, immunological, and genetic characteristics with DOCK8‐Def. Genetic analysis was performed with targeted‐ or whole‐exome sequencing; we also assessed DOCK8 protein expression and a lymphoproliferation assay and analyzed survival by the Kaplan–Meier method.ResultsWe described 11 patients from 8 unrelated kindreds. The median age at symptoms' onset was 10 months (range 1–54 months). The median follow‐up time was 53.4 months (4.8–118.8). All patients presented eczema and recurrent sinopulmonary and cutaneous infections. Besides those symptoms, the most frequent manifestations were bronchiectases (8/11), food allergies (6/11), and severe infections (6/11). Infrequent characteristics were detection of CMV in bronchial lavage, C. parvum‐driven sclerosing cholangitis, Takayasu vasculitis, neurological syndromes, pulmonary tuberculosis, and lymphomatoid granulomatosis.ConclusionDOCK8‐Def has a broad spectrum of manifestations, including allergy, autoimmunity, inflammation, infection, and cancer. The hallmark of this inborn error of immunity is IEI‐associated eczema with eosinophilia and increased IgE. Here, we report six new mutations causing human DOCK8 deficiency and symptoms previously unrecognized to occur in DOCK8‐Def. Therefore, an early diagnosis of DOCK8‐Def is essential to facilitate an adequate treatment such as HSCT.

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Section: Giardia Lambliamentioning

confidence: 79%

Section: Discussionmentioning

confidence: 92%