amphotericin-b and Job-Syndrome

Topics: Adolescent; Adult; Amphotericin B; Antifungal Agents; Child; Child, Preschool; Coccidioides; Coccidioidomycosis; Colon; Cryptococcosis; Cryptococcus; Duodenal Ulcer; Endemic Diseases; Female; Histoplasma; Histoplasmosis; Humans; Itraconazole; Job Syndrome; Male; Middle Aged; Mutation; STAT3 Transcription Factor; Treatment Outcome; Triazoles; United States

Fusariosis is the second most common mold infection after aspergillosis, and keratomycosis is the most encountered implantation infection. Here, we report a case of a 4-year-old Han Chinese girl presenting with an itchy mass on her right face of almost 2 years' duration. Direct smear of the lesion sample was positive for fungal hyphae. Biopsy of the lesion showed many fungal hyphae in the epidermis and dermis. The pathogen was identified as Fusarium lichenicola by molecular sequencing and phylogenetic analysis based on the TEF-1α gene. Whole-exome sequencing analysis using her peripheral blood revealed a heterozygous mutation in the STAT3 gene, which is related to autosomal dominant hyper-immunoglobulin E syndrome (AD-HIES). The lesion improved following treatment with i.v. and intralesional amphotericin B, oral voriconazole and topical luliconazole cream. To our knowledge, this is the second reported case of a special localized cutaneous lesion caused by Fusarium species in a child with AD-HIES. Both cases suggest that STAT3 deficiency may increase susceptibility to fusariosis.

Topics: Administration, Cutaneous; Administration, Oral; Amphotericin B; Antifungal Agents; Biopsy; Child, Preschool; DNA Mutational Analysis; Drug Therapy, Combination; Exome Sequencing; Face; Female; Fusariosis; Fusarium; Humans; Imidazoles; Injections, Intralesional; Job Syndrome; Skin; STAT3 Transcription Factor; Treatment Outcome; Voriconazole

Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin and lung infections. We report the first case of Coccidioides immitis meningitis in a patient with HIES. Coccidioides should be included in the differential diagnosis for central nervous system infections in HIES patients.

Topics: Adolescent; Amino Acid Substitution; Amphotericin B; Antibodies, Fungal; Antifungal Agents; Cerebrospinal Fluid; Coccidioides; Coccidioidomycosis; Exons; Female; Humans; Immunoglobulin G; Job Syndrome; Meningitis, Fungal; Mutation, Missense; Sequence Analysis, DNA; STAT3 Transcription Factor

Topics: Adult; Amphotericin B; Antifungal Agents; Candida albicans; Candidiasis; Chorioretinitis; Drug Therapy, Combination; Endophthalmitis; Eye Infections, Fungal; Female; Fluconazole; Fundus Oculi; Humans; Job Syndrome; Vitreous Body

Topics: Adult; Amphotericin B; Colonic Diseases; Female; Histoplasmosis; Humans; Job Syndrome; Recurrence

Patients with the hyperimmunoglobulin E-recurrent infection (Job's) syndrome, which is characterized by an elevated immunoglobulin E level, recurrent staphylococcal infections, and an abnormality of neutrophil chemotaxis, have been reported to have visceral Candida infections in addition to their more frequent pyogenic infections. We report a patient with Job's syndrome who presented with massive hematemesis secondary to esophageal cryptococcosis. A thorough evaluation for an occult neoplasm or extraesophageal cryptococcosis was negative. The patient received a 6-wk course of amphotericin B (970 mg) and 5-fluorocytosine with complete radiographic and endoscopic resolution of the lesion. He is doing well 18 mo after therapy. The patient was not anergic, and his response to T-cell mitogens, helper-to-suppressor T-cell ratio, total number of T cells, and immunoglobulin-producing capability were all normal. This case is unusual in that it is the first documentation of a cryptococcoma of the esophagus and underscores the importance of culturing abnormal specimens for unsuspected pathogens in unusual clinical circumstances.

Topics: Adult; Amphotericin B; Cryptococcosis; Cryptococcus neoformans; Endoscopy; Esophageal Diseases; Flucytosine; Humans; Job Syndrome; Male; Phagocyte Bactericidal Dysfunction