Maja Klaudel-Dreszler - Academia.edu (original) (raw)

Papers by Maja Klaudel-Dreszler

Endokrynologia Polska, Jun 30, 2021

Introduction: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characteriz... more Introduction: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure, and bone malformations. Systematic data concerning endocrine function in SDS are limited. We studied patients diagnosed in The Children's Memorial Health Institute in Warsaw, Poland, to assess the prevalence of various endocrinopathies. Material and methods: In the pilot study, retrospective data were collected for 5 patients with SDS. Subsequently, patients with SDS aged 3-16 years were recruited prospectively. In total, 19 patients with mutations in the SBDS gene were studied. Data were collected on anthropometric measurements, systemic screening tests of pituitary, thyroid, adrenal, pancreatic, and gonadal function, as well as bone mineral density. Descriptive statistics were tabulated and group differences assessed. Results: Twelve patients (63%) had ≥ 1 endocrine disorder, including growth hormone dysfunction (10 patients, 53%), hypothyroidism (2 patients, 10%), congenital hypopituitarism (1 patient, 5%), and/or type 1 diabetes mellitus (T1DM) (1 patient, 5%). The group of boys presented with a significantly lower height (-2.1 SD, p < 0.0001) and BMI (-1.0 SD, p < 0.00001). The group of girls also showed significantly lower height (-2.6 SD, p < 0.00001) and BMI (-0.7 SD, p < 0.0001). All patients had significantly lower height than their mid-parental height. Delayed bone age was found in 15 patients (84%) and osteopaenia in 12 of 15 patients (80%). Conclusions: Endocrine dysfunctions are common in SDS, especially growth hormone (GH) deficiency. Children with poor growth can benefit from an endocrinological evaluation and tests for GH deficiency. Bone mineral density measurements should be a part of a routine screening. Longitudinal studies are needed to better understand the aetiology and true prevalence of these disorders.

Viral Immunology, Dec 1, 2011

Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A g... more Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as hypopigmentation, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH). The authors report the diagnosis of GS2 in an 11-year-old girl with hypopigmentation, immunodeficiency, hepatosplenomegaly, severe neurological impairments, and fatal multiorgan failure. In this patient a diagnosis of pulmonary lymphomatoid granulomatosis (LG), an Epstein-Barr virus (EBV)-related lymphoproliferative disorder, was established from radiological and histological findings. Although EBV-related malignancies are common in immunocompromised patients, this is the first report of a diagnosis of pulmonary LG in a patient with GS2.

Central European Journal of Immunology, 2023

Severe congenital neutropenia (SCN) comprises a heterogenous group of disorders characterized by ... more Severe congenital neutropenia (SCN) comprises a heterogenous group of disorders characterized by a constantly low absolute neutrophil count (ANC) below 0.5 × 10 9 /l in the peripheral blood and maturation arrest of the myelopoiesis in the bone marrow at the promyelocyte/myelocyte stage that lead to early onset of severe bacterial infections in affected patients. Clinical symptoms of congenital neutropenia include sepsis, recurrent respiratory tract infections, mouth ulceration, chronic gingivitis, bacterial skin infections, and urinary tract infections. Patients with SCN often develop periodontitis despite standard medical and dental care. We present oral symptoms in our patient afflicted with SCN due to homozygous mutations in the JAGN1 gene, based on 16 years of observation and treatment at the Paediatric Dentistry Clinic of Children's Memorial Health Institute. In our patient, oral cavity changes typical for SCN-in the form of gingivitis and bleeding from periodontal tissues-appeared around the age of 2 and led to the premature loss of primary teeth. The patient also developed an advanced periodontal disease in the permanent dentition, resulting in the loss of 21 teeth at 15 years of age. Dental care of patients with SCN should be carried out in close cooperation with an immunologist, and dental procedures associated with the risk of bacteremia require antibiotic prophylaxis.

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PubMed, 2004

Combined vaccines are urgently needed because of the increasing number of recommended vaccines fo... more Combined vaccines are urgently needed because of the increasing number of recommended vaccines for children. Combined vaccines could be considered as having the same priming effect as monovalent vaccines. They demonstrated a good reactogenicity and tolerability profile. Combined vaccines are more comfortable option for the infant vaccination providing immunity against four or more important childhood diseases with a single injection at each visit.

Pediatria polska, Sep 1, 2007

ABSTRACT Familial haemophagocytic lymphohistiocytosis (FLH) or familial haemophagocytic syndrome ... more ABSTRACT Familial haemophagocytic lymphohistiocytosis (FLH) or familial haemophagocytic syndrome is a rare, lifethreatening condition, caused by congenital defect in cellular cytotoxicity, which may be triggered by infections. Cardinal symptoms of this autosomal recessive disease include: prolonged fever, hepatosplenomegaly, duo- or pancytopaenia in peripheral blood. Among laboratory aberrations there are: hypofibrynogenaemia, hypertriglyceridemia, hyperferritinaemia, hypertransaminasaemia, hyperbilirubinaemia and lymphocytic pleocytosis in CSF. Dysfunction of liver and central nervous system, caused by hypercytokinemia and infiltration with hyperactivated cytotoxic T lymphocytes and macrophages, is often present in the course of the disease. Unfortunately, morphological hallmark – haemophagocytosis, observed in hyperactivated macrophages, may not be found in initial bone marrow smears or lymph node examination, which however does not exclude such a diagnosis. If the diagnostic criteria are fulfilled, the initial testing should include determination of perforin expression in NK and CD8+ T cells. This new diagnostic test is currently available in the Children's Memorial Health Institute in Warsaw. Results can be obtained within 2 hours. Patients lacking perforin expression should be analyzed for PRF1 gene mutation, being responsible for approximately 40% of FHL worldwide. Permanent control of the disease is possible only after successful haematopoietic stem cell transplantation (from either related or unrelated donor).

Frontiers in Pediatrics, Mar 23, 2022

We report a child with Fanconi anemia who, after hematopoietic stem cell transplantation (HSCT) c... more We report a child with Fanconi anemia who, after hematopoietic stem cell transplantation (HSCT) complicated by acute graft-versus-host disease (GVHD), underwent orthotopic liver transplantation (OLT). Approximately 1 month after OLT, the presence of thirdparty genetic material from the liver donor was noted and in the next few weeks, the chimerism assessment revealed 100% liver donor leukocytes in the peripheral blood. The rapidly progressing GVHD with gut involvement resulted in patient's death 6 months after OLT. The liver can act as a clinically significant source of hematopoietic stem cells, and the liver donor's young age must be emphasized as potentially predisposing to this phenomenon. Transfer of OLT hematopoietic stem cells may not have clinical significance unless the patient is not immunocompetent or develops livertransplantation associated GVHD, that can result in lymphocyte mediated elimination of original hematopoiesis. Patients with preexisting immunity disorder (such as primary or secondary immunodeficiency) might require intensified immunosuppressive therapy in peritransplant period as a prevention of liver-transplantation associated GVHD. Close monitoring of hematopoietic chimerism after OLT is warranted in patients at risk, because cytopenia or OLT hematopoiesis can reflect subclinical GVHD and further studies are necessary to elucidate this phenomenon.

Frontiers in Pediatrics, Jan 13, 2021

Dental and Medical Problems, 2012

Central European Journal of Immunology, Dec 10, 2007

The increasing number of reports of disseminated BCG infection (BCG-itis) is very serious, and is... more The increasing number of reports of disseminated BCG infection (BCG-itis) is very serious, and is almost always in children with immunocompromising conditions such as HIV, SCID, or with another severe form of congenital immunodeficiency. Vaccination at birth is a constant element of vaccination programmes in Central and Eastern Europe, due to the high prevalence of tuberculosis. Difficulties in the diagnosis and therapy of BCG infections in primary immunodeficiency patients, hospitalised in the Department of Immunology, Children's Memorial Health Institute in Warsaw, during the last 25 years have recently been published in Emerg Infect Dis 2007; 13(5): 799. Based on our experience, we would like to propose a set of novel criteria for diagnosis and prophylaxis, and therapeutic guidelines for BCG infection.

Central European Journal of Immunology, 2012

We describe here a girl who was vaccinated at birth with BCG (Bacillus Calmette-Guérin) vaccine a... more We describe here a girl who was vaccinated at birth with BCG (Bacillus Calmette-Guérin) vaccine according to national immunization schedule in Poland. After the age of 2.5 m.o., she developed disseminated BCG infection. Primary immunodeficiencies (PID), such as severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), hyper IgM syndrome (HIGM), hyper IgE syndrome (HIES) were excluded. The diagnostic tests exploring IFN-γ/IL-12 axis were performed. The 818del4, the most common basis of IFNGR1 deficiency was found.

Clinics and Research in Hepatology and Gastroenterology, Oct 1, 2018

Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocy... more Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure. Early onset lysosomal acid lipase deficiency (EO-LAL-D) was suspected due to lymphocytes with cytoplasmic vacuolation and/or adrenal calcifications and confirmed by enzymatic and genetic analysis. Enzyme replacement therapy with sebelipase alfa was implemented, but both children died, despite initial improvement. Since this inborn error of metabolism progresses rapidly in infants, early diagnosis is crucial, and appropriate treatment should be started as soon as possible. The authors suggest that the diagnosis of EO-LAL-D should be considered in infants with symptoms of HLH.

Proceedings of the National Academy of Sciences of the United States of America, Dec 27, 2018

Pediatric endocrinology, diabetes, and metabolism, 2021

Introduction: Shwachman-Diamond syndrome (SDS) is a rare, autosomal recessive multisystemic disor... more Introduction: Shwachman-Diamond syndrome (SDS) is a rare, autosomal recessive multisystemic disorder characterized by pancreatic insufficiency and bone marrow failure. Short stature is a recognized feature of SDS syndrome; however, systemic data concerning recombinant human growth hormone (rGH) treatment are limited. Aim of the study: To assess the effect of rGH treatment in patients with SDS. Material and Methods: Retrospective data were collected from patients with SDS and growth hormone deficiency (GHD) treated with rGH in the Children's Memorial Health Institute in Warsaw. The annual growth velocity (GV) and height standard deviation score (SD) were compared for up to 2 years of rGH treatment. Results: Six SDS patients (M : F = 1 : 5) treated with rGH were identified. The median age of starting rGH therapy was 7.5 years, with a mean baseline height SD of-4.06 (range:-6.3 to-2.3 SD). The height SD significantly improved to-3.3 (p = 0.002) and then-3.03 (p = 0.002), following 1 and 2 years of treatment, respectively. The average GV for the patients prior to starting treatment was 4.9 cm/year (range: 3.1-6.5 cm/year), which significantly improved to 7.6 cm/year (range: 5.7-9.6 cm/year) after 1 year of rGH treatment (p = 0.020) and to 6.7 cm/year at the end of 2 years. Conclusions: Our study has shown that rGH treatment significantly improves the height SDS and GV of patients with SDS and GHD without any side effects. Further research is required to analyse the long-term effect of rGH therapy in patients with SDS.

Emerging Infectious Diseases, May 1, 2007

tiveros-Rodriguez C, Gómez-Roldan C. Antimicrobial susceptibility patterns and high-level gentami... more tiveros-Rodriguez C, Gómez-Roldan C. Antimicrobial susceptibility patterns and high-level gentamicin resistance among enterococci isolated in a Mexican tertiary care center.

Research Square (Research Square), Sep 4, 2020

Background: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characteri... more Background: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insu ciency, immune de ciency, bone marrow failure and skeletal abnormalities. Most patients present with failure in somatic development and short stature, but systematic data concerning those features are limited. The aim of the study was to assess the prevalence of failure in somatic development in the children with SDS. Methods: An analysis of anthropometric measurements of 21 patients (14 girls and 7 boys),aged 2 to 17 years (mean age 6.3 years) with SDS diagnosed in The Children's Memorial Health Institute in Warsaw, Poland was performed. The patients were measured using a Holtain Limited stadiometer, an electronic scale, a Harpenden anthropometer, a metric tape and a spreading caliper. The assessed anthropometric parameters were expressed as standard deviation scores in relation to the reference values in Poland, suitable for sex as well as calendar and growth age. Results: A total of 66 measurements was collected and analyzed with a median number of 3 observations per patient. The group of boys presented with a signi cantly lower height (-3.0 SD, p<0.0001) and BMI (-1.4 SD, p<0.00001), and in the relation to the growth age a lower weight (-1.0 SD, p<0.001) as well as a smaller chest width (-0.9 SD, p<0.05), hip width (-0,5 SD, p<0,05) and lower limb length (-0,5 SD, p<0,05). The group of girls also showed signi cantly lower height (-2.6 SD, p<0.00001) and BMI (-0.8 SD, p<0.00001), and in relation to the growth age, lower weight (-0.5 SD, p<0.001) as well as decreased width of the chest (-1.7 SD, p<0.0001) and shoulder (-1.0 SD, p<0.001) were observed. Boys and girls were also characterized by signi cantly decreased circumference and width of head, additionally, girls had also smaller head length. Conclusions: Patients with SDS have abnormal somatic development. Both boys and girls are characterized by short stature, decreased weight, BMI, leg length, chest width as well as circumference and width of head. Anthropometric measurements provide important data on the process of growth and body proportions in children with SDS.

Postępy Nauk Medycznych, Jun 4, 2012

Chronic neutropenia (CN) is a rare disorder in children. It is defined by an absolute neutrophil ... more Chronic neutropenia (CN) is a rare disorder in children. It is defined by an absolute neutrophil count (ANC) below 1500 cells per cubic microliter of peripheral blood, lasting for at least 6 months. It can be acquired or congenital. More frequent-acquired chronic neutropenia is mainly caused by: malnutrition, exposure to drugs, chemical compounds and viral infections. CN is the cardinal symptom of some rare, hereditary entities such as: chronic benign familial neutropenia, Shwachman-Diamond syndrome (SDS), Kostmann syndrome (KS), cyclic neutropenia (CyN), glycogen storage disease type 1b (GSD1b). It may be also associated with primary immunodeficiency (PID), organic acidaemia or autoimmune disease. Diagnostics requires: detailed medical history of a child, repeated complete blood counts (CBS) including absolute neutrophil count (ANC), bone marrow aspirate, granulocytic antibodies-in cases of severe neutropenia, sometimes-immunologic investigation. Therapeutic management depends on the clinical entity, patient's age and severity of clinical course; it includes antibiotic and vaccine prophylaxis, in selected children-chronic rHuG-CSF-treatment or haematopoietic stem cell transplantation (HSCT) from an HLA-identical related or unrelated donor, especially in children suffering from the diseases connected with relatively high risk of malignant myeloid transformation such as: KS, SDS and Fanconi anaemia (FA). Currently, autoimune neutropenia of infancy (AIN), a benign and self-limiting condition, is more often diagnosed by anti-neutrophil antibodies detection, in children under 5 years of age.

Journal of Experimental Medicine, Jul 30, 2012

Childhood herpes simplex virus-1 (HSV-1) encephalitis (HSE) may result from single-gene inborn er... more Childhood herpes simplex virus-1 (HSV-1) encephalitis (HSE) may result from single-gene inborn errors of TLR3 immunity. TLR3-dependent induction of IFN-/ or IFN- is crucial for protective immunity against primary HSV-1 infection in the central nervous system (CNS). We describe here two unrelated children with HSE carrying different heterozygous mutations (D50A and G159A) in TBK1, the gene encoding TANK-binding kinase 1, a kinase at the crossroads of multiple IFN-inducing signaling pathways. Both mutant TBK1 alleles are loss-of-function but through different mechanisms: protein instability (D50A) or a loss of kinase activity (G159A). Both are also associated with an autosomal-dominant (AD) trait but by different mechanisms: haplotype insufficiency (D50A) or negative dominance (G159A). A defect in polyinosinic-polycytidylic acid-induced TLR3 responses can be detected in fibroblasts heterozygous for G159A but not for D50A TBK1. Nevertheless, viral replication and cell death rates caused by two TLR3-dependent viruses (HSV-1 and vesicular stomatitis virus) were high in fibroblasts from both patients, and particularly so in G159A TBK1 fibroblasts. These phenotypes were rescued equally well by IFN-2b. Moreover, the IFN responses to the TLR3-independent agonists and viruses tested were maintained in both patients' peripheral blood mononuclear cells and fibroblasts. The narrow, partial cellular phenotype thus accounts for the clinical phenotype of these patients being limited to HSE. These data identify AD partial TBK1 deficiency as a new genetic etiology of childhood HSE, indicating that TBK1 is essential for the TLR3-and IFN-dependent control of HSV-1 in the CNS.