Recurrent Skin Abscesses Research Articles

De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.

Severe congenital neutropenia (SCN) comprises a diverse range of rare hematological disorders characterized by recurrent, often life-threatening infections that manifest within the first months of life. Mutations in the ELANE gene are the most prevalent cause of SCN. While over 230 mutations in ELANE have been documented, including substitutions, frameshifts, nonsense mutations, and splice site alterations, the occurrence of deep intronic mutations has not been previously reported. Herein, we present the case of a young girl who exhibited recurrent fever, respiratory infections, skin abscesses, and gingivitis shortly after birth. Laboratory analysis revealed markedly diminished neutrophil levels alongside elevated monocyte and eosinophil counts. Bone marrow examination disclosed a halt in myelopoiesis maturation. ELANE gene full-length sequencing identified a novel de novo deep intron mutation in ELANE (c.598 + 79G > T), subsequently confirmed by Sanger sequencing. cDNA sequencing of the patient demonstrated aberrant gene splicing. Utilizing a mini-gene splicing assay for ELANE intronic variants, we identified a mutant ELANE allele (c.597 + 1_597 + 83ins) leading to the creation of a premature termination codon (p.Gly200ValfsTer40). Confocal microscopy revealed heightened expression of myeloperoxidase and neutrophil elastase in the patient, suggesting a potential role for the unfolded protein response in the pathogenesis of the deep intron ELANE mutation. In summary, our findings illustrate the first reported instance of de novo deep intron ELANE mutations associated with SCN, underscoring the importance of exploring deep intronic regions in SCN patients lacking identifiable disease-causing gene mutations.

Lupic Glomerulonephritis in a Patient Presenting with Hyperimmunoglobulin E Syndrome: A Case Report

Hyper-IgE syndrome (also known as Job or Buckley syndrome) is a hereditary immune deficiency of autosomal dominant inheritance. It is clinically characterized by the occurrence of recurrent staphylococcal, skin abscesses, bacterial and fungal pneumopathies, and a significant increase in immunoglobulin E. Its association with systemic lupus erythematosus has been described, the mechanism of which involves the deposition of immune complexes. We report the case of an 11-year-old girl with hyper IgE syndrome who was admitted to our clinic with severe renal failure, diagnosed as lupus glomerulonephritis on kidney biopsy.

MULTIPLE GIANT CHALAZIA IN HYPERIMMUNOGLOBULINEMIA E SYNDROME: A CASE REPORT

Introduction : Hyperimmunoglobulinemia E syndrome (HIES) is a rare primary immunodeficiency disorder that manifests as elevated level of serum immunoglobulin E (IgE) higher than 1.000 IU/mL and multisystem disorder characterized by recurrent skin and pulmonary abscesses caused by autosomal dominant or recessive disorder with gene mutation. We present a case of multiple giant chalazion ina patient with HIES.
 Case Illustration : A 15-year-old boy was referred to Ophthalmology Department with multiple giant lumps on the left eyelid for the last 2 weeks. He had a history of recurrent multiple lumps on the left lower eyelid in the last 1 year. He was diagnosed with HIES since 8 years ago. He had normal visual acuity of both eyes. Multiple giant chalazion were observed on the left upper and lower eyelid. The patient also presented with scalp and neck infection. Laboratory studies showed elevated total serum IgE level of 53,032 IU/mL and eosinophilia.
 Discussion : Ocular manifestations in HIES patients are not common. Some cases reported chalazia, keratoconus, and blepharitis. Surgical incision drainage was performed in our patient. Medications and surgical intervention had produced only transient improvement. The patient was treated conservatively. Riskof chalazia recurrence remains unknown as reported cases presented with diverse clinical presentation and follow-up serum IgE evaluation is not routinely performed.
 Conclusion : Recurrent multiple giant chalazia may occur as an ophthalmic feature of HIES. HIES should be considered and investigated in patients presenting with recurrent giant chalazia.

MULTIPLE GIANT CHALAZIA IN HYPERIMMUNOGLOBULINEMIA E SYNDROME: A CASE REPORT

Abstract
 Introduction : Hyperimmunoglobulinemia E syndrome (HIES) is a rare primary immunodeficiency disorder that manifests as elevated level of serum immunoglobulin E (IgE) higher than 1.000 IU/mL and multisystem disorder characterized by recurrent skin and pulmonary abscesses caused by autosomal dominant or recessive disorder with gene mutation. We present a case of multiple giant chalazion ina patient with HIES.
 Case Illustration : A 15-year-old boy was referred to Ophthalmology Department with multiple giant lumps on the left eyelid for the last 2 weeks. He had a history of recurrent multiple lumps on the left lower eyelid in the last 1 year. He was diagnosed with HIES since 8 years ago. He had normal visual acuity of both eyes. Multiple giant chalazion were observed on the left upper and lower eyelid. The patient also presented with scalp and neck infection. Laboratory studies showed elevated total serum IgE level of 53,032 IU/mL and eosinophilia.
 Discussion : Ocular manifestations in HIES patients are not common. Some cases reported chalazia, keratoconus, and blepharitis. Surgical incision drainage was performed in our patient. Medications and surgical intervention had produced only transient improvement. The patient was treated conservatively. Riskof chalazia recurrence remains unknown as reported cases presented with diverse clinical presentation and follow-up serum IgE evaluation is not routinely performed.
 Conclusion : Recurrent multiple giant chalazia may occur as an ophthalmic feature of HIES. HIES should be considered and investigated in patients presenting with recurrent giant chalazia.

SAT092 A Case Of Mature Onset Diabetes Of The Young

Abstract Disclosure: L. Beshay: None. A. Thakkar: None. Background: Maturity onset diabetes of the young (MODY) is a disorder characterized by noninsulin-dependent diabetes diagnosed at a young age (<25 years) with autosomal dominant inheritance and lack of autoantibodies. It accounts for 2 to 5 percent of diabetes cases. Several different genetic abnormalities have been identified causing disruption in pancreatic beta cells development and function leading to impaired insulin secretion. Mutations in hepatocyte nuclear factor-1-alpha (HNF1A) is the most commonly identified mutation occurring in 52 to 65 of MODY cases. Case Description: A 21 year old female with a history of diabetes and recurrent skin abscesses presented to the emergency room with right lower quadrant epidermal abscess. Endocrinology was consulted for evaluation of her diabetes. She was diagnosed at age 14 when she presented with weight loss, polyuria, polydipsia, BG 406 without diabetic ketoacidosis. She reported a history of type 2 diabetes in mother. Her medications included metformin, lantus and humalog. It was noted that her diabetes was never controlled with an A1c persistently >10%. Patient reported skin swelling with insulin injections and working two jobs which limited her ability to take more than one injection per day. Her BMI is 23 kg/m2. Labs this admission showed HbA1c 13.7%, GAD 65 Ab and IA-2 Ab negative, c-peptide 1.1 ng/ml, with a glucose of 209 mg/dl. MODY was suspected due to her age, intact c-peptide, and lack of DM1 antibodies. The patient was discharged on Trulicity 0.75 mg weekly, Lantus 12U nightly, Glipizide 2.5mg daily. On follow up, a MODY genetic panel confirmed a HNF1A missense variant with AD inheritance. Since initiation of sulfonylurea, she has had improved control of diabetes. Glipizide dose is being titrated up with concomitant decrease in insulin dose with plan to discontinue basal insulin once her blood sugars are at goal. Conclusion: The HNF1A gene on chromosome 12 is a weak transactivator of the insulin gene in beta cells. Mutations of HNF1A can lead to abnormal insulin secretion and a low renal threshold for glucose. These patients are at risk for micro- and macrovascular complications of diabetes. In terms of treatment, they exhibit increased insulin sensitivity and marked sensitivity to the hypoglycemic effects of sulfonylureas compared with patients with type 2 diabetes. Thus, patients can be successfully treated with sulfonylurea monotherapy, and in one clinical study, approximately 70 percent of patients previously treated with insulin successfully switched to sulfonylureas. Thus, it is important to evaluate etiology of diabetes, as detection of MODY variants in which sulfonylureas are used for treatment simplifies management and improves outcomes as demonstrated in this case. Presentation: Saturday, June 17, 2023

Diagnosis of a case of X-linked agammaglobulinemia with juvenile idiopathic arthritis and recurrent pneumonia in Bangladesh

Abstract X-linked agammaglobulinemia (XLA) is a rare hereditary primary immunodeficiency disorder caused by mutation in the Bruton’s tyrosine kinase (BTK) gene located in the Xq22 region of the X chromosome. It is characterized by absolute or marked deficiency of matured B-cells in circulation as well as decreased in all immunoglobulin (Ig) classes. We have reported one case who is a 48-month-old boy and suffering from recurrent pneumonia, skin abscess, otitis media, and swelling of the left knee joint. His serum Ig levels showed an IgM level of <0.169 g/l, IgG 2.43 g/l, and IgA <0.256 g/l. Immunophenotyping of lymphocyte subsets showed an absence of B-cells. Intracellular BTK protein expression in monocytes by flow cytometry showed a markedly reduced mean fluorescence index which confirmed the diagnosis of XLA. Antibiotics with intravenous Ig therapy were started.

Epstein Barr Virus Positive Hodgkin's Lymphoma in a Patient with NEMO Deficiency

IntroductionHypomorphic mutations in the NF-kappaB essential modulator (NEMO) can manifest in diverse ways, but are best characterized by early susceptibility to viral, pyogenic and mycobacterial infections, ectodermal dysplasia and absent pneumococcal responses. We describe a case of EBV+ Hodgkin's lymphoma in a 9-year-old patient with NEMO on antimicrobial prophylaxis and immunoglobulin replacement therapy (IgRT). Case reportOur patient was diagnosed with NEMO deficiency at 2 years with initial presentation of recurrent pneumonia, recurrent skin abscesses and severe eczema herpeticum. His disease was moderately controlled with IgRT, and prophylaxis with trimethoprim/sulfamethoxazole, azithromycin and acylovir prophylaxis, with primary complications of continued recurrent pneumonia and finger clubbing. At 9 years of age however, he developed acute back pain and weakness, along with night sweats. MRI revealed thoracic spinal cord compression at T5 secondary to a possible neoplastic soft tissue mass. A laminectomy revealed Epstein Barr virus (EBV) positive Hodgkin lymphoma, stage 4 high risk due to PET positivity with uptake at large cervical chain nodal conglomerates bilaterally, mediastinal mass, thoracic paraspinal mass, periportal lymph nodes, splenic, and right medial femoral neck. He also had low level EBV viremia (EBV viral load 7,515 IU/mL). He was treated according to AHOD1331 with ABVE-PC (doxorubicin/bleomycin/vincristine/etoposide/prednisone), and also received rituximab and valganciclovir for treatment of EBV. He is now in remission after 4 months of treatment, and continues on IgRT, pneumocystis jiroveci pneumonia, mycobacterium avium complex, and herpes simplex virus prophylaxis. ConclusionPatients with certain inborn errors of immunity have a higher incidence of malignancy due to impaired immune function. Despite their viral susceptibility, EBV-induced lymphomas are not common in NEMO deficiency. NEMO patients may need further enhanced screening for development of malignancy, including regular surveillance for chronic, cancer-causing infections such as EBV and HPV.

Ear‐looped face masks associated retro‐auricular abscesses during the COVID‐19 pandemic

AbstractUniversal mask‐wearing has become public‐health recommendations and a necessity in daily life since coronavirus disease 2019 (COVID‐19) pandemic. Accumulating evidence suggests that facial masks may damage the skin. We present a series of six patients with ear‐looped face mask associated retro‐auricular abscesses (RAAs) from a tertiary referral centre, observed between March 2020 and May 2021. Patients’ past medical history included recurrent skin abscess (n = 2), seborrhoeic dermatitis (n = 1) and pre‐existing postauricular cyst (n = 4). All patients reported prolonged use of ear‐looped face masks. Incision and drainage of the abscesses were carried out in all cases, followed by systemic antibiotic treatment. All patients recovered without complications and no recurrences (follow‐up 11−17 months). We hypothesise that ear‐looped face masks may promote the formation of RAAs. Possible mechanisms include local mechanical pressure, friction, changes in the skin's temperature, humidity and microbia, inducing local inflammation and infection, leading to retro‐auricular sebaceous duct obstruction.

Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.

Autosomal dominant hyper-IgE syndrome (AD-HIES) is an inborn error of immunity (IEI) caused by a dominant-negative mutation in the signal transducer and activator of transcription 3 (STAT 3). This disease is characterized by chronic eczematoid dermatitis, recurrent staphylococcal skin abscesses, pneumonia, pneumatoceles, and extremely high serum IgE levels. Loss-of-function STAT3 mutations may also result in distinct non-immunologic features such as dental, facial, skeletal, and vascular abnormalities, central nervous system malformations and an increased risk for bone fractures. Prophylactic treatment of Candida infections and prophylactic antimicrobial therapy for staphylococcal skin infections and sinopulmonary infections are essential. An awareness of the oral and maxillofacial features of HIES may facilitate early diagnosis with genetic counselling and may improve future patient care. This study describes oral, dental, and maxillofacial manifestations in 14 patients with genetically defined AD-HIES. We also review the literature and propose recommendations for the complex care of patients with this rare primary immunodeficiency.

NOVEL HETEROZYGOUS SINGLE NUCLEOTIDE POLYMORPHISM IN STAT-3 GENE IN PATIENT WITH SUSPECTED HYPER IGE SYNDROME

<h3>Introduction</h3> Hyper IgE syndrome (HIES) is a rare genetic immune deficiency disorder affecting multiple organs. Recurrent skin infections, abscesses, atopic dermatitis, and hypereosinophilia are common. Mutations in STAT-3 gene is associated with HIES. We present a novel heterozygous point mutation in STAT-3 gene in a patient with hyper IgE and recurrent abscesses. <h3>Case Description</h3> A 22-year-old male presented with severe atopic dermatitis and recurrent abscesses. Initial labs revealed very high serum IgE 41,559 U/ml and eosinophil count of 1290/cmm. CBC showed mild anemia. Infectious work up was all negative. Patient had normal CMP, troponin, spirometry, tryptase, Vit B12 and ECHO. Skin biopsy was suggestive of eosinophilic fasciitis. Bone marrow biopsy and flow cytometry were normal. CT scans showed inguinal and axillary lymphadenopathy and borderline hepatomegaly. He was hospitalized multiple times for I/D of his recurrent abscesses. He was treated with systemic steroids and started on Bactrim prophylaxis. In addition, Dupilumab was started for his eczema which improved his skin. He longer has abscesses. After Dupilumab his IgE level significantly decreased from >50,000 U/ml to 14,790 U/ml. HIES panel revealed a novel heterozygous point mutation in STAT-3 gene, Exon 19 c1673G>A (p.Gly558Asp). Due to patient's supporting clinical phenotype HIES was suspected. Further genetic and functional studies to confirm this variant are planned. <h3>Discussion</h3> HIES is a complex disease, and it is challenging to confirm the diagnosis. Several mutations in STAT-3 have been described but more studies are still warranted to identify different mutations. Dupilumab may improve patient's atopic dermatitis in suspected cases.

A CASE OF AUTOSOMAL-DOMINANT HYPER-IGE SYNDROME MASQUERADING AS CYSTIC FIBROSIS

A CASE OF AUTOSOMAL-DOMINANT HYPER-IGE SYNDROME MASQUERADING AS CYSTIC FIBROSIS

Confirmed diagnosis of classic Wiskott–Aldrich syndrome in East Africa: a case report

IntroductionWiskott–Aldrich syndrome is a rare X-linked primary immunodeficiency that mostly presents with a classic triad of eczema, microthrombocytopenia, recurrent infections, and increased risk of autoimmunity/malignancies.Case presentationWe present an 8-month-old African male, born from nonconsanguineous parents and who presented with a history of eczematous skin rash since day 9 of life, with recurrent sinus infections, otitis media, and skin abscesses. An elder male sibling who had similar symptoms passed away during infancy. Investigations were consistent with microthrombocytopenia and significantly raised immunoglobulin E, while immunoglobulin A and immunoglobulin G were moderately elevated with normal immunoglobulin M. Genetic testing revealed the patient to be hemizygous for a pathogenic Wiskott–Aldrich syndrome gene variant (NM_000377.2:c.403C>T). He was managed conservatively with supportive treatment until he died a year later.ConclusionDespite Wiskott–Aldrich syndrome being a rare disease, it should be considered as a differential in any male child who presents with microthrombocytopenia and recurrent infections, especially in low-resource settings where genetic testing is not routinely available.

Turning walking pneumonia into recurrent abscesses: a curious case of CVID and review of the literature

BackgroundCommon variable immunodeficiency (CVID) is a primary immunodeficiency disorder associated with a broad symptom presentation that is still being characterized. We report a rare case of recurrent mycoplasma skin abscesses in a patient with a history of autoimmune disorders and prolonged mycoplasma pneumonia who was diagnosed with CVID.Case presentationA 34-year-old woman presented with a history of recurrent abscesses previously confirmed positive for Mycoplasma pneumoniae. Her past medical history of recurrent mycoplasma abscesses, prolonged mycoplasma pneumonia, and autoimmune disorders (mixed connective tissue disease and immune thrombocytopenia) raised suspicion of CVID. Workup included negative anti-mycoplasma antibody titers, hypogammaglobulinemia, and negative anti-pneumococcal antibody titers despite prior vaccination, solidifying the diagnosis of CVID. The patient was discharged on antibiotic and intravenous immunoglobulin therapy and now follows allergy and immunology long-term for treatment.ConclusionsHer diagnostic history underscores the importance of considering the various criteria of CVID for diagnosis, and her unique presentation of M. pneumoniae skin abscesses highlights the broad sequelae patients with CVID can manifest.

Oral observations of hyper immunoglobulin-e syndrome: A case report

The hyperimmunoglobulin E syndrome is a rare primary immunodeficiency, characterized by a triad of clinical signs including elevated serum IgE levels, recurrent staphylococcal skin abscesses and pneumonia. It can be autosomal dominant or recessive and is characterized by immunological and non-immunological abnormalities. Individuals with HIES share characteristic facial features, with many oral manifestations like retained deciduous teeth, missing permanent tooth buds, high arched palate, oral and gingival lesions, etc. This report aimed to describe a rare clinical case of a 13-year-old girl, that was referred to our paediatric dentistry department at the Mohammed V University Hospital in Rabat-Morocco, diagnosed with autosomal dominant hyperimmunoglobulin E syndrome with numerous oral manifestations.

A rare presentation of blastomycosis as a multi-focal infection involving the spine, pleura, lungs, and psoas muscles in a Saudi male patient: a case report

BackgroundBlastomycosis is a disease caused by the fungus Blastomyces—a thermally dimorphic fungus that can cause granulomatous and/or purulent infection.Case presentationWe report here a case of chronic blastomycosis infection in a 24-year-old male patient from Saudi Arabia who presented with recurrent skin abscesses associated with deep-seated and multilevel paraspinal (dorsal and lumbar) collections and bilateral empyema with pulmonary involvement and bilateral psoas abscesses. The diagnosis was made after a CT-guided pleural biopsy revealed the characteristic histopathological findings of blastomycosis. The patient underwent several drainage procedures and was successfully treated with a long-term course of oral itraconazole.ConclusionsChronic blastomycosis may have clinical and radiologic features similar to thoracic tuberculosis or malignant disease. There is no definite clinical symptom of blastomycosis, and thus a high degree of suspicion is required for early diagnosis. This case is a rare form of blastomycosis with chronic multifocal purulent infection and is the second case of blastomycosis reported in Saudi Arabia.

Chronic Lymphocytic Leukemia, T-Cell Large Granular Lymphocytic Leukemia in a Pediatric Patient without Underlying Condition

BackgroundLarge granular lymphocytic (LGL) leukemia is a rare hematological malignancy in children. The two types of LGL leukemia that have been described are T-cell and Natural Killer cell leukemia. It is most commonly diagnosed in older adults, average age of 60-year-old. About 20 cases of LGL leukemia have been reported in children and young adults. All the patients in the reported cases had immune dysregulation conditions, such as chronic graft versus host disease, common variable immunodeficiency disorder, Crohn's disease and autoimmune hemolytic anemia. Here we report a case of T-cell LGL leukemia in a 11-year-old boy without underlying condition who presented with chronic neutropenia associated with gingival hypertrophy, recurrent skin abscesses, aphthous ulcers, clubbing of nails and low bone density.MethodsMulti-institution collaboration and literature review.Case Description11-year-old male with two years history of episodic gum bleeding with gingival hypertrophy, skin abscesses, aphthous ulcers, chronic neutropenia and lymphocytosis presented to our clinic for further evaluation. Initial workup demonstrated moderate to severe neutropenia (absolute neutrophil count between 400/ul to 800/ul) with low segmented neutrophils of 2-4% and high lymphocytes of more than 80%, but normal white blood cell count, hemoglobin for age and platelet count. Peripheral blood smear showed several variant lymphocytes with cytoplasmic blebs and no immature cells present. Expansion of T-cell large granular lymphocytes were detected in peripheral blood by flow cytometry. Due to new symptom of lower back pain, a lumbar Magnetic Resonance Imaging was performed. Results showed low bone density with mild compression deformity of L1 and abnormal heterogeneous marrow signal with heterogeneous contrast enhancement. The abnormal bone marrow signal promoted the investigation of bone marrow aspiration and biopsy. Flow cytometry detected forty-five percent of lymphocytes with immuno-phenotype of CD3+, CD8+, CD57+, CD16+, CD7+ and CD5-. The morphology of minimal cytoplasm and mature chromatin along with immunophenotype were consistent with clonal T-cell large granular lymphocytic proliferation/leukemia. Further cytogenetic tests showed TCR gamma and beta genes rearrangement, STAT3 N647I mutation with normal male karyotype. A peripheral blood congenital neutropenia panel, which included a total of 18 genes, found a heterozygous mutation c 279 G>A in the Gata2 gene; a variant of uncertain significance. Next generation sequencing showed somatic mutations of TRGV10, TRGV8 TRGJ1, TNFAIP3 and STAT3. However, there was no germline mutations detected in sample from skin biopsy. Comprehensive evaluation by immunology, rheumatology and gastroenterology failed to detect any underlying conditions.ConclusionDue to rarity of LGL leukemia in pediatrics, standard of care guidelines are currently unavailable. Extrapolated from limited literature, two management options are considered: watch and wait approach versus early initiation of immunosuppressant chemotherapy. Improved diagnostics can aide management strategies in this patient population. DisclosuresNo relevant conflicts of interest to declare.

Variable clinical characteristics and laboratory results in five patients with Chinese Good's syndrome (thymoma and hypogammaglobulinemia): an 8-year retrospective analysis in a university hospital in China

BackgroundGood's syndrome (GS) is a rare secondary immunodeficiency disease presenting as thymoma and hypogammaglobulinemia. Due to its rarity, the diagnosis of GS is often missed.MethodsWe used the hospital information system to retrospectively screen thymoma and hypogammaglobulinemia patients at the First Affiliated Hospital of Wenzhou Medical University from Apr 2012 to Apr 2020. The clinical, laboratory, treatment, and outcome data for these patients were collected and analyzed.ResultsAmong the 181 screened thymoma patients, 5 thymoma patients with hypogammaglobulinemia were identified; 3 patients had confirmed diagnoses of GS, and the other 2 did not have a diagnosis of GS recorded in the hospital information system. A retrospective review of the clinical characteristics, laboratory results, and follow-up data for these 2 undiagnosed patients confirmed the diagnosis of GS. All 5 GS patients presented with pneumonia, 2 patients presented with recurrent skin abscesses, 2 patients presented with recurrent cough and expectoration, 1 patient presented with recurrent oral lichen planus and diarrhea, and 1 patient presented with tuberculosis and granulomatous epididymitis. In the years after the diagnosis of hypogammaglobulinemia with mild symptoms, all 5 patients had received irregular intravenous immunoglobulin (IVIG) treatment. As the course of the disease progressed, the clinical symptoms of all patients worsened, but the symptoms were partly resolved with IVIG in these patients. However, 4 patients died due to comorbidities.ConclusionGS should be investigated as a possible diagnosis in thymoma patients who present with hypogammaglobulinemia, especially those with recurrent opportunistic infections, recurrent skin abscesses, chronic diarrhea, or recurrent lichen planus.

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report

BackgroundAutosomal recessive hyper-IgE syndrome (AR-HIES) caused by DOCK8 gene is a rare immunodeficiency disease, the main clinical manifestations include recurrent Eczema-like rash, skin and lung abscesses, accompanied with increased serum IgE level. Here, we report a 7-year-old Chinese girl with a new clinic features caused by DOCK8 gene mutations.Case presentationA 7-year-old girl was admitted to our hospital because of abnormal walking posture. The clinical manifestations of the patient included abnormal gait, eczema-like rash, fingertip abscess, high muscle tone, and facial paralysis. Among them, high muscle tone and facial paralysis are new clinic features which have not been reported previously. The blood eosinophils and serum IgE levels were significantly increased, and the lymphocyte subsets indicated a decrease of T lymphocytes. The magnetic resonance imaging (MRI) of her brain suggested myelin dysplasia and brain atrophy. Two novel compound heterozygous mutations (c.1868 + 2 T > C and c.5962-2A > G) of DOCK8 gene were identified by whole exome sequencing. By literature review, there are 11 mutations of DOCK8 gene in Chinese AR-HIES patients.ConclusionsTwo novel splice-site mutations(c.1868 + 2 T > C and c.5962-2A > G) of DOCK8 gene and new clinic features were found in a Chinese girl with AR-HIES, which extends our understanding of DOCK8 gene mutation spectrum and phenotype of AR-HIES in children.

FUNGAL NEUROLOGICAL SEQUELAE IN A HYPER IMMUNOGLOBULIN E SYNDROME FROM PESHAWAR, PAKISTAN: AN UNUSUAL PRESENTATION

Hyper IGE syndrome is one of the primary immunodeficiency syndromes characterized by the presence of abnormally raised serum IGE levels (2000 IU/ml) with defective humoral and cell mediated immunity presenting in infancy or early childhood. It is a rare disease with only about 200 cases reported in literature. Usually, it is diagnosed clinically and by raised serum IGE levels. Mostly, it presents with recurrent staphylococcal skin abscesses, sinopulmonary infections, and opportunistic mycotic infections due to the immunodeficient state. Rarely, the central nervous system is involved by this condition.This case study deals with an 11-year-old girl who was diagnosed as a case of hyper IGE syndrome. She presented with low GCS and focal neurological deficits which were attributed to aspergillus fumigatus infection spreading to the brain resulting in multiple abscesses and eventually to death of the patient despite treatment interventions. This case emphasizes the likelihood of dissemination of fungal infections to multiple organs including the brain and the potential role of early neuroimaging to detect such lesions. Moreover, it shows significance of serial imaging in admitted patients particularly with the onset of new and unusual neurological symptoms. With more extensive studies, we may be able to diagnose and treat such infections and their complications on time with better outcomes.

Skin infections due to Panton-Valentine leukocidin (PVL)-producing S. aureus-Cost effectiveness of outpatient treatment.

IntroductionSkin and soft tissue infections (SSTI) caused by Panton-Valentine leukocidin (PVL)-producing strains of Staphylococcus aureus (PVL-SA) are associated with recurrent skin abscesses. Secondary prevention, in conjunction with primary treatment of the infection, focuses on topical decolonization. Topical decolonization is a standard procedure in cases of recurrent PVL-SA skin infections and is recommended in international guidelines. However, this outpatient treatment is often not fully reimbursed by health insurance providers, which may interfere with successful PVL-SA decolonization.AimOur goal was to estimate the cost effectiveness of outpatient decolonization of patients with recurrent PVL-SA skin infections. We calculated the average cost of treatment for PVL-SA per outpatient decolonization procedure as well as per in-hospital stay.MethodsThe study was conducted between 2014 and 2018 at a German tertiary care university hospital. The cohort analyzed was obtained from the hospital’s microbiology laboratory database. Data on medical costs, DRG-based diagnoses, and ICD-10 patient data was obtained from the hospital’s financial controlling department. We calculated the average cost of treatment for patients admitted for treatment of PVL-SA induced skin infections. The cost of outpatient treatment is based on the German regulations of drug prices for prescription drugs.ResultsWe analyzed a total of n = 466 swabs from n = 411 patients with recurrent skin infections suspected of carrying PVL-SA. PVL-SA was detected in 61.3% of all patients included in the study. Of those isolates, 80.6% were methicillin-susceptible, 19.4% methicillin-resistant. 89.8% of all patients were treated as outpatients. In 73.0% of inpatients colonized with PVL-SA the main diagnosis was SSTI. The median length of stay was 5.5 days for inpatients colonized with PVL-SA whose main diagnosis SSTI; the average cost was €2,283. The estimated costs per decolonization procedure in outpatients ranged from €50-€110, depending on the products used.ConclusionOur data shows that outpatient decolonization offers a highly cost-effective secondary prevention strategy, which may prevent costly inpatient treatments. Therefore, health insurance companies should consider providing coverage of outpatient treatment of recurrent PVL-SA skin and soft tissue infections.