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1.
Turk J Pediatr ; 62(4): 525-532, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32779404

RESUMO

BACKGROUND AND OBJECTIVES: Autoimmune cytopenias are a group of heterogeneous disorders characterized by immune-mediated destruction of one or more hematopoietic lineage cells. The differential diagnosis of children with autoimmune cytopenias requires much time and laboratory investigations. The aim of the present study was to evaluate the clinical course and significance of autoimmune cytopenias due to immunodeficiency or autoimmune diseases in children at a single children`s hospital. METHOD: Between February 1997 and September 2015, chronic/refractory autoimmune cytopenias patient data were evaluated retrospectively. Twenty-three patients were assessed in this study. RESULTS: The median duration of following was 2.6 years (4 months-18.5 years). The median age of diagnosis was 3.1 years (6 months-16 years). A total of 13 patients (56.5%) had single-lineage and 10 (46.5%) had multilineage cytopenias. The most frequent single-lineage cytopenia was thrombocytopenia, followed by anemia. In 22 of the patients, cytopenias was detected before the primary diseases. All of the patients were treated with corticosteroids or intravenous immune globulin as first-line treatment. Ten patients (43.5%) needed second or further-line immunosuppressive therapies that patients diagnosed as systemic lupus erythematosus, hypogammaglobulinemia, or common variable immunodeficiency. A total of 8 patients (34.7%) recovered from autoimmune cytopenias after the treatment of primer disease. Cytopenias were continued in 14 patients. CONCLUSION: Cytopenia may be the first finding of an immunodeficiency or autoimmune disease and primary disease may be diagnosed in the clinical course. Taking the new targeted treatment options into consideration; early diagnosis is likely to become more important in the near-future in order to begin the treatment for the underlying disease as early as possible.

2.
Turk J Pediatr ; 62(4): 652-656, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32779419

RESUMO

BACKGROUND: The recently described FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 13 (MTDPS13) manifests with severe encephalopathy, early-onset lactic acidosis, hypotonia, developmental delay and feeding difficulty. Less than 100 cases with FBXL4-related MTDPS13 and 47 pathogenic mutations in the FBXL4 gene have been identified thus far. Here, we describe a patient diagnosed with MTDPS13 with two novel variants of the FBXL4 gene. CASE: A 51-day-old male was admitted with the complaint of bloody stool. His physical examination revealed facial dysmorphic features, developmental delay and truncal hypotonia with lack of head control. Laboratory investigations showed anemia, neutropenia, metabolic acidosis with hyperlactatemia, elevated fumaric acid, 2-ketoglutaric acid in urine and elevated alanine level in plasma which were consistent with mitochondrial dysfunction. Brain magnetic resonance imaging (MRI) showed large ventricles, thin corpus callosum and poor myelination. Drug-resistant epilepsy developed during the clinical follow-up. Ketogenic diet was initiated for intractable epilepsy; which was then interrupted due to severe metabolic acidosis. Compound heterozygous pathogenic variants were detected in the FBXL4 gene [p.Gly258* (c.772G > T, Exon 5)/p.Trp354Ser (c.1061G > C, Exon 6)] with whole-exome sequencing. CONCLUSION: We detected two novel variants of the FBXL4 gene. To the best of our knowledge, this is the first case in the literature that presented with gastrointestinal bleeding as an encephalomyopathic form of mitochondrial DNA depletion syndromes and for whom ketogenic diet was initiated due to intractable epilepsy, which was not reported in previous cases.

4.
Cent Eur J Immunol ; 45(1): 69-72, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32425682

RESUMO

Introduction: Microdeletion syndromes may be accompanied by immunological disorders. This study aimed to evaluate the clinical and laboratory data as well as the immune functions of patients diagnosed with a microdeletion syndrome. Material and methods: 39 patients diagnosed with microdeletion syndrome who were monitored at the Pediatric Genetics and Immunology clinics at Dr. Behcet Uz Children's Hospital were included in this study. All data for this research were obtained from patient records and by individual consultation with their parents. Results: Of the 39 patients, 15 were monitored for a diagnosis of Williams syndrome, 12 for DiGeorge syndrome, 4 for Prader-Willi syndrome, 2 for Wolf-Hirschhorn syndrome, 1 for a 1p36 deletion, 1 for Smith-Magenis syndrome, 2 for Trichorhinophalangeal syndrome type 2 (TRPS2), and 2 for Cri-du-chat syndrome. Of these 39 patients, 10 (25.6%) had a medical history of frequent upper respiratory tract infections. One of the cases with TRPS2 and another with Smith-Magenis syndrome had previously received intravenous antibiotic therapy for infectious disease. Five of the 12 patients with DiGeorge syndrome had low T lymphocytes. Two of the patients with DiGeorge syndrome with a history of frequent infections, with hypogammaglobinemia, and low lymphocytes were receiving regular intravenous immunoglobulin (IVIG) replacement. Conclusions: It must be taken into account that patients with microdeletion syndromes, especially those with DiGeorge syndrome, may also have immunodeficiencies; therefore, these patients should be closely monitored to prevent development of any complications.

5.
J Clin Virol ; 128: 104355, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32464308

RESUMO

BACKGROUND: The influenza virus is a significant cause of acute lower respiratory tract infections (LRTI) requiring hospitalization in childhood and leads to severe morbidity and mortality, especially in certain risk groups. OBJECTIVES: The study aims to evaluate acute LRTI due to influenza in a tertiary care hospital and the risk factors for hospitalization among Turkish children. STUDY DESIGN: Children between 1 month and 18 years of age who were hospitalized at Dr. Behçet Uz Children's Hospital between January 2016 and March 2018 with lower respiratory tract infection that tested positive for influenza by PCR were included. Children with viral coinfections were excluded. Patient files were retrospectively scanned from the hospital computerized system in terms of age, underlying diseases, whether antiviral therapy was used, and length of hospital stay. Statistical analysis was performed using SPSS statistical software. RESULTS: The study included 131 patients with a median age of 2 years (1 month-15 years). Sixty-seven (51,1%) patients were younger than two years. Influenza A was isolated in 129 patients and B in 2 patients. Fifty-two patients (39,7%) had underlying medical conditions, and the most common one was malignancies (12/52, 23%). This was followed by neurodevelopmental diseases (9/52, 17,3%), prematurity (9/52 patients, 17,3%), primary immunodeficiency (8/52, 15,4%), asthma (7/52, 13,4%), Down syndrome (4/52, 7,7%), chronic renal disease (2/52, 3,8%) and congenital heart diseases (1/52, 1,9%). The mean length of stay (LOS) was 12,3 ± 9,5 days (2-60 days). The LOS was found to be statistically longer (15,2 ± 12,1 days, 3-60 days) in patients with an underlying disease compared to previously healthy patients (10,4 ± 6,7 days, 2-35 days) (p = 0.01). CONCLUSIONS: Hospitalization due to influenza-related acute LRTI is not an issue only for patients with an underlying medical condition. Vaccination should be considered not only for those with underlying medical conditions but also for healthy children.

6.
J Pediatr Endocrinol Metab ; 33(1): 157-163, 2020 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-31809266

RESUMO

Background Citrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today. Case presentation We reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia. Conclusions Two different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.


Assuntos
Proteínas de Ligação ao Cálcio/deficiência , Citrulinemia/genética , Citrulinemia/patologia , Mutação , Transportadores de Ânions Orgânicos/deficiência , Adolescente , Pré-Escolar , Citrulinemia/classificação , Citrulinemia/terapia , Feminino , Humanos , Lactente , Masculino , Proteínas de Transporte da Membrana Mitocondrial , Prognóstico , Turquia
7.
Cent Eur J Immunol ; 44(2): 119-126, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31530980

RESUMO

Introduction: In this study, we aimed to retrospectively evaluate the clinical and laboratory findings and complications of 28 common variable immunodeficiency (CVID) patients. Material and methods: The clinical features and laboratory data of 28 CVID patients were evaluated. Results: Nineteen patients were male. In 53.5% of the cases, complications included inflammatory bowel disease, cytopenia, bronchiectasis, granulomatous lymphocytic interstitial lung disease (ILD) and asthma. In their immunological evaluations, IgG, IgM, and IgA mean values were 474.8 ±214.1 mg/dl; 56.7 ±41.9 mg/dl; 35.3 ±58.2 mg/dl, respectively, and the vaccine response was positive in 64.2% of the cases. In all age groups, absolute lymphocyte counts, naive (CD19+IgD+27-), nonswitch (CD19+IgD-27+) memory B cells were numerically higher when compared to the data of healthy children; however, although switch memory (CD19+IgD+27+) B cells were proportionally low in the 4-8 and 12-18 age groups, they were low both numerically and proportionally in the 8-12 age group. No statistically significant difference was found between the cases with complications and without complications. But the cases with pulmonary complications were compared within the group, the CD8 ratio was high but the IgA level was low in patients with bronchiectasis and CD3 was numerically and proportionally low in the cases with ILD compared to others. According to the Paris classification, 11/27 (40.7%) of the cases, 3/27 (11.1%) of them and 13/27 (48.2%) of them were evaluated as MB0, MB1, and MB2, respectively. Conclusions: In genetic studies, TACI (trans-membrane activator and calcium-modulating cyclophilin ligand interactor - TNFRSF13B) mutation was found positive in 25% of the cases.

8.
Cent Eur J Immunol ; 44(2): 206-209, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31530991

RESUMO

Leukocyte adhesion deficiency type II (LAD II) is a rare, autosomal, recessive inherited immunodeficiency disease that induces frequent and recurrent infections, persistent leukocytosis, severe mental and growth retardation, and impaired wound healing. The Bombay blood group is a rare blood group phenotype that is characterised by the deficiency of H, A, and B antigens on the surface of red cells. LAD II and the Bombay blood group are always seen together, because both of them are associated with a global defect in the common pathway of fucose metabolism. Here we report the case of an 11-year-old boy with LAD II, who presented with the Bombay blood group. Agglutination with strength of 4+ was detected in all cross-matching due to erythrocyte transfusions for our patient. Therefore, the Bombay blood group was incidentally determined due to deficient expression of the CD15 adhesion molecules on the surface of the leukocytes according to the results of flow cytometry. Upon detecting the Bombay blood type, LAD II was then diagnosed as a result of flow cytometry and the clinical findings of mental retardation and history of recurrent infections such as abscesses.

9.
Blood ; 134(18): 1510-1516, 2019 10 31.
Artigo em Inglês | MEDLINE | ID: mdl-31501153

RESUMO

Dysregulated immune responses are essential underlying causes of a plethora of pathologies including cancer, autoimmunity, and immunodeficiency. We here investigated 4 patients from unrelated families presenting with immunodeficiency, autoimmunity, and malignancy. We identified 4 distinct homozygous mutations in TNFRSF9 encoding the tumor necrosis factor receptor superfamily member CD137/4-1BB, leading to reduced, or loss of, protein expression. Lymphocytic responses crucial for immune surveillance, including activation, proliferation, and differentiation, were impaired. Genetic reconstitution of CD137 reversed these defects. CD137 deficiency is a novel inborn error of human immunity characterized by lymphocytic defects with early-onset Epstein-Barr virus (EBV)-associated lymphoma. Our findings elucidate a functional role and relevance of CD137 in human immune homeostasis and antitumor responses.


Assuntos
Doenças Autoimunes/genética , Síndromes de Imunodeficiência/genética , Linfoma/genética , Membro 9 da Superfamília de Receptores de Fatores de Necrose Tumoral/genética , Doenças Autoimunes/imunologia , Feminino , Predisposição Genética para Doença , Humanos , Síndromes de Imunodeficiência/imunologia , Linfoma/imunologia , Masculino , Linhagem , Membro 9 da Superfamília de Receptores de Fatores de Necrose Tumoral/deficiência
10.
Scand J Immunol ; 89(2): e12737, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30506560

RESUMO

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to bacterial and fungal infections resulting from the inadequacy of phagocytic leucocytes to produce reactive oxygen radicals. CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox) and p40(phox), respectively. The genetic mutation of one of the cytosolic p47phox/p67phox proteins and membrane-bound gp91phox/p22phox proteins, which constitutes the NADPH oxidase enzyme complex, causes the disease. In this study, we evaluated the clinical, laboratory and genetic findings and the prognostic effects of molecular inheritance of our 24 CGD cases (14 XR, 10 autosomal recessive-AR). Consanguinity (three XR and all AR cases) showed statistically significant relationship with the type of hereditary inheritance (P < 0.001). 83% patients had an infection since early infancy. The mean age of initiation of symptoms was earlier in XR cases, and 78% patients had respiratory tract infections. Bone marrow transplantation was performed in five XR cases (two ex) and four AR (one ex) cases. Three of nine XR and two of six AR cases deceased on medical follow-up. In countries especially with high consanguinity rates, the early diagnosis for appropriate prophylactic treatment of CGD is quietly important to avoid from recurrent severe infections, early death and fatal complications of late transplantation.


Assuntos
Consanguinidade , Doença Granulomatosa Crônica/imunologia , NADPH Oxidases/metabolismo , Adolescente , Idade de Início , Transplante de Medula Óssea , Criança , Pré-Escolar , Feminino , Seguimentos , Genes Recessivos/genética , Genes Ligados ao Cromossomo X/genética , Doença Granulomatosa Crônica/epidemiologia , Doença Granulomatosa Crônica/genética , Humanos , Masculino , Mutação/genética , NADPH Oxidase 2/genética , Espécies Reativas de Oxigênio/metabolismo , Estudos Retrospectivos , Resultado do Tratamento , Turquia/epidemiologia
11.
Iran J Immunol ; 15(4): 309-320, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30593745

RESUMO

BACKGROUND: Primary complement deficiencies are rare diseases. OBJECTIVE: To retrospectively evaluate the clinical and laboratory findings and complications of patients to increase awareness of pediatricians about complement deficiencies, which are rarely encountered. METHODS: In this study, the clinical and immunological characteristics of 21 patients who consulted the Immunology Department of our hospital between 2003 and 2017 and were diagnosed with classical or alternative pathway complement deficiency were obtained from the file records. RESULTS: Ten patients with C1 inhibitor deficiency, four patients with factor I deficiency, three patients with properdin deficiency, two patients with C8 deficiency, one patient with C1q deficiency, and one patient with C4B deficiency were assessed. The mean age of the patients at diagnosis was 11.4±4.7 years, the age of onset of symptoms was 7.9±3.9 years, and the follow-up period was 6.7±3.9 years. Fourteen cases had a similar medical history in the family. All patients with C1q, factor I, properdin, C8, and C4B deficiencies presented with an infection, and vasculitic rash was present in two patients with factor I deficiency. In addition, immune complex glomerulonephritis was present in one patient with factor I deficiency. Meningococcal, Haemophilus influenzae type B, and pneumococcal vaccines were administered and prophylactic antibiotic treatment was initiated in all patients except patients with C1 inhibitor deficiency. CONCLUSIONS: Early diagnosis of complement deficiencies can facilitate prevention of life-threatening complications such as severe bacterial infections by considering prophylactic antibiotics and vaccines. In patients with C1 inhibitor deficiency, achieving an acurate early diagnosis will assist in the management and timely treatment of life-threatening attacks such as upper airway obstruction and improve outcomes.


Assuntos
Infecções Bacterianas/genética , Via Alternativa do Complemento/genética , Via Clássica do Complemento/genética , Síndromes de Imunodeficiência/genética , Adolescente , Antibioticoprofilaxia , Infecções Bacterianas/diagnóstico , Criança , Proteína Inibidora do Complemento C1/genética , Complemento C1q/genética , Complemento C8/genética , Diagnóstico Precoce , Feminino , Fibrinogênio/genética , Seguimentos , Humanos , Síndromes de Imunodeficiência/diagnóstico , Masculino , Properdina/genética , Estudos Retrospectivos
12.
Proc Natl Acad Sci U S A ; 115(34): E8007-E8016, 2018 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-30072435

RESUMO

Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance. We reported seven heterozygous protein-coding mutations in 8 of the 23 kindreds studied, including 6 of the 8 multiplex kindreds. We have since enrolled 33 new kindreds, 5 of which are multiplex. We describe here 11 new heterozygous ICA-causing RPSA protein-coding mutations, and the first two mutations in the 5'-UTR of this gene, which disrupt mRNA splicing. Overall, 40 of the 73 ICA patients (55%) and 23 of the 56 kindreds (41%) carry mutations located in translated or untranslated exons of RPSA. Eleven of the 43 kindreds affected by sporadic disease (26%) carry RPSA mutations, whereas 12 of the 13 multiplex kindreds (92%) carry RPSA mutations. We also report that 6 of 18 (33%) protein-coding mutations and the two (100%) 5'-UTR mutations display incomplete penetrance. Three mutations were identified in two independent kindreds, due to a hotspot or a founder effect. Finally, RPSA ICA-causing mutations were demonstrated to be de novo in 7 of the 23 probands. Mutations in RPSA exons can affect the translated or untranslated regions and can underlie ICA with complete or incomplete penetrance.


Assuntos
Éxons , Síndromes de Imunodeficiência/genética , Mutação , Penetrância , Biossíntese de Proteínas/genética , Processamento de RNA/genética , Receptores de Laminina/genética , Proteínas Ribossômicas/genética , Baço/anormalidades , Regiões 5' não Traduzidas , Feminino , Efeito Fundador , Heterozigoto , Humanos , Síndromes de Imunodeficiência/metabolismo , Masculino , Doenças da Imunodeficiência Primária , Receptores de Laminina/biossíntese , Proteínas Ribossômicas/biossíntese , Baço/metabolismo
13.
Int J Immunopathol Pharmacol ; 32: 2058738418779458, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29978731

RESUMO

Common variable immunodeficiency (CVID) and immunoglobulin A deficiency (IgAD) are the most prevalent primary immunodeficiency disorders. High rates of familial inheritance have been described in CVID and IgAD, but it is unknown in different ethnic populations. We aimed to determine the prevalence of familial cases and whether they showed more severe clinical characteristics than sporadic ones in Turkish patients. A total of 40 CVID and 70 IgAD patients and their 251 first-degree relatives (FDRs) were evaluated. Demographic, clinical, and laboratory data were reviewed. A familial case was defined as a patient with at least one affected FDR (A-FDR). The rate of parental consanguinity was 19.1%. There were 37 familial cases (37/110) (33.6%) with at least one A-FDR. There were 48 A-FDRs who had immunoglobulins lower than age-related normals (48/251) (19.1%). Pulmonary infections were significantly higher in familial cases. To our knowledge, this study includes the highest number of CVID/IgAD patients and their FDRs in literature. Familial cases are at least 30% of the IgAD and CVID patients, and they have more frequent lower respiratory tract infections than sporadic ones, so these patients have to be evaluated depending on their being familial or sporadic for better management. The risk of carrying any immunologic alterations in relatives of patients with IgAD and CVID is approximately 20%. Although most A-FDRs are asymptomatic, considering the risk of progression to CVID by age, we highly recommend routine screening for FDRs.


Assuntos
Imunodeficiência de Variável Comum/epidemiologia , Consanguinidade , Deficiência de IgA/epidemiologia , Imunoglobulina A/sangue , Adulto , Imunodeficiência de Variável Comum/genética , Imunodeficiência de Variável Comum/imunologia , Feminino , Hereditariedade , Humanos , Deficiência de IgA/genética , Deficiência de IgA/imunologia , Masculino , Pessoa de Meia-Idade , Linhagem , Turquia
14.
J Allergy Clin Immunol ; 142(5): 1589-1604.e11, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29751004

RESUMO

BACKGROUND: The actin-interacting protein WD repeat-containing protein 1 (WDR1) promotes cofilin-dependent actin filament turnover. Biallelic WDR1 mutations have been identified recently in an immunodeficiency/autoinflammatory syndrome with aberrant morphology and function of myeloid cells. OBJECTIVE: Given the pleiotropic expression of WDR1, here we investigated to what extent it might control the lymphoid arm of the immune system in human subjects. METHODS: Histologic and detailed immunologic analyses were performed to elucidate the role of WDR1 in the development and function of B and T lymphocytes. RESULTS: Here we identified novel homozygous and compound heterozygous WDR1 missense mutations in 6 patients belonging to 3 kindreds who presented with respiratory tract infections, skin ulceration, and stomatitis. In addition to defective adhesion and motility of neutrophils and monocytes, WDR1 deficiency was associated with aberrant T-cell activation and B-cell development. T lymphocytes appeared to develop normally in the patients, except for the follicular helper T-cell subset. However, peripheral T cells from the patients accumulated atypical actin structures at the immunologic synapse and displayed reduced calcium flux and mildly impaired proliferation on T-cell receptor stimulation. WDR1 deficiency was associated with even more severe abnormalities of the B-cell compartment, including peripheral B-cell lymphopenia, paucity of B-cell progenitors in the bone marrow, lack of switched memory B cells, reduced clonal diversity, abnormal B-cell spreading, and increased apoptosis on B-cell receptor/Toll-like receptor stimulation. CONCLUSION: Our study identifies a novel role for WDR1 in adaptive immunity, highlighting WDR1 as a central regulator of actin turnover during formation of the B-cell and T-cell immunologic synapses.


Assuntos
Linfócitos B/imunologia , Sinapses Imunológicas , Proteínas dos Microfilamentos/genética , Proteínas dos Microfilamentos/imunologia , Linfócitos T/imunologia , Imunidade Adaptativa , Adulto , Criança , Feminino , Humanos , Masculino , Mutação , Adulto Jovem
15.
Iran J Immunol ; 15(1): 1-13, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29549228

RESUMO

BACKGROUND: Patients with unclassified hypogammaglobulinemia (UCH) constitute a diagnostic and therapeutic dilemma, because information concerning the clinical and immunological characteristics of these patients is insufficient. OBJECTIVE: To evaluate B-cell subsets in cases with UCH and common variable immunodeficiency (CVID) and their association with treatment requirement in UCH patients. METHODS: The study included 41 UCH, 25 CVID, and 36 healthy individuals between the ages of 4-18 years. RESULTS: The absolute count of total memory and switched memory B-cells were lower in the CVID cases in comparison to the control group. Additionally, the absolute count of marginal zone-like B cells in the 4-10 year age group, and the absolute count of switched plasmablasts in the 10-18 year age group were lower in CVID cases when compared to both the control and UCH groups. The UCH group was categorized based on IVIG replacement therapy. Therefore, the percentage of switched memory B cells was significantly lower in the IVIG-receiving group (10.6% ± 3.10%) compared to the control group (14.0% ± 5.60%). However, there was no significant difference between the IVIG-receiving group and the CVID group. Regarding the comparison of the non-IVIG replacement group and the CVID group, the absolute count of total memory B cells, marginal zone-like B cells, and switched memory B cells were significantly higher in the UCH group. CONCLUSION: B-lymphocyte subsets in UCH cases that did not require IVIG replacement were similar to the control group. On the other hand, the percentage of switched memory B-cells in the UCH cases that required IVIG replacement was not different from that of the CVID cases.


Assuntos
Agamaglobulinemia/imunologia , Subpopulações de Linfócitos B/imunologia , Linfócitos B/imunologia , Imunodeficiência de Variável Comum/imunologia , Adolescente , Agamaglobulinemia/terapia , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/terapia , Feminino , Citometria de Fluxo , Humanos , Switching de Imunoglobulina , Imunoglobulinas Intravenosas/uso terapêutico , Memória Imunológica , Contagem de Linfócitos , Masculino
16.
Minerva Pediatr ; 70(4): 365-370, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26041003

RESUMO

BACKGROUND: The aim of the study was to perform a neurodevelopmental evaluation of the children with cyanotic congenital heart disease and to determine the factors that affect the neurodevelopmental status. METHODS: The study was performed in the Pediatric Cardiology Department of Behcet Uz Children's Hospital between February and August 2013. Children between the age of six to forty-two months were included in the study and were evaluated in three groups (two patient groups and the control group). In group A, patients with isolated cyanotic congenital heart disease were enrolled. Group B consisted of the patients with cyanotic congenital heart disease with other concomitant diseases. Group C included the healthy control group. For the neurodevelopmental evaluation Bayley Scale of Infant Development- II (BSID-II) was used. Mental Developmental Index (MDI) and Psychmotor Developmental Index (PDI) scores were calculated. Factors possibly effective on neurodevelopment were evaluated. RESULTS: Thirty eight patients (32 in group A and 6 in group B) and 33 healthy subjects in group C were included in the study. Mean age of the patient group was 22.5±11.2 months. In group A mean MDI Score (82.5±14.7) was significantly lower than group C (92.3±6.9) (P=0.001). Similarly mean PDI Score in group A (82.0±18.2) was found significantly lower than group C (92.5±7.4) (P=0.003). When group A and B were compared, mean MDI and PDI scores were lower in group B, but the difference was not statistically significant. For group A, according to the psychomotor development index, 41.6% of the patients were found to be mildly to severely retarded. In terms of the mental development index, 34.4% of the patients had moderate or mild retardation. The sex, socioeconomic status, gestational age, birth weight, comorbidities, history of surgery and reoperation, length of stay in intensive care unit were not found influential on the MDI and PDI scores of the patients. CONCLUSIONS: Mental-motor retardation is frequently encountered in children with cyanotic congenital heart disease. These patients may benefit from motor, language, speech, developmental and educational therapies. For this reason, these children have to be under regular follow up for neurodevelopmental status.


Assuntos
Desenvolvimento Infantil/fisiologia , Cianose/congênito , Deficiências do Desenvolvimento/epidemiologia , Cardiopatias Congênitas/complicações , Estudos de Casos e Controles , Pré-Escolar , Cianose/complicações , Feminino , Humanos , Lactente , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Masculino , Fatores de Risco , Índice de Gravidade de Doença , Turquia
17.
Tuberk Toraks ; 65(1): 56-59, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28621249

RESUMO

Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency that is characterized by recurrent and life-threatening infections resulting from defects in phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system and granuloma formation due to increased inflammatory response. The most commonly involved organs are the lungs, skin, lymph nodes, and liver due to infection. It may present with recurrent pneumonia, hilar lymphadenopathy, empyema, abscess, reticulonodular patterns, and granulomas due to lung involvement. In recent years, mycobacterial disease susceptibility has been reported in CGD cases. This article presents two male cases, one of whom is aged 18 months and the other is aged 5 years, who were diagnosed with CGD and tuberculosis during examination due to extended pneumonia. This report is presented because CGD should be considered not only in the presence of skin abscesses and Aspergillus infections, but also in the differential diagnosis for cases with BCG-itis and/or tuberculosis. It should be kept in mind that mycobacterial infections can occur during the course of the disease.


Assuntos
Doença Granulomatosa Crônica/complicações , Tuberculose/complicações , Pré-Escolar , Diagnóstico Diferencial , Suscetibilidade a Doenças , Granuloma/diagnóstico , Doença Granulomatosa Crônica/diagnóstico , Humanos , Lactente , Doenças Linfáticas/diagnóstico , Masculino , Pneumonia/diagnóstico , Tomografia Computadorizada por Raios X , Tuberculose/diagnóstico
18.
Indian Pediatr ; 54(5): 381-384, 2017 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-28368265

RESUMO

OBJECTIVE: To study the factors affecting a neurodevelopmental status of children with congenital hypothyroidism, diagnosed on national screening program. METHODS: The study was performed in the Pediatric Endocrinology Department of Dr. Behcet Uz Children's Hospital between May 2012 and May 2013. Children with congenital hypothyroidism, aged between 24 and 36 months, diagnosed by national screening program were included in the study group. Healthy subjects at the same age group consisted of the control group. For the neurodevelopmental evaluation, Bayley Scale of Infant Development- II (BSID-II) was used. Factors possibly effective on neurodevelopment were evaluated. RESULTS: 42 patients and 40 healthy children (mean (SD) age, 29.4 (3.7) and 29.2 (3.5), respectively were included in the study. The mean MDI score [92.6 (7.07) vs 97.1 (9.69), P=0.14)] and the mean PDI score [97.8 (15.68) vs 99.1 (10.57), P=0.66)] in the study group and control group were not significantly different. Among the patient, 4.6% and 4.7% children were moderately retarded as per the MDI scores and PPI scores, respectively. The sex, socioeconomic status, birth weight, screening levels of TSH, severity of the congenital hypothyroidism, initiation time and the dosage of thyroid hormone replacement, length of the normalization period of TSH, and adherence to treatment were not found to affect the MDI and PDI scores of the patients. CONCLUSION: Some children with congenital hypothyrodism may have mild to moderate neurodevelopmental retardation, despite the early diagnosis and treatment, and thus need to be under regular follow-up for neurodevelopmental status.


Assuntos
Hipotireoidismo Congênito , Triagem Neonatal , Transtornos do Neurodesenvolvimento , Estudos de Casos e Controles , Criança , Desenvolvimento Infantil , Hipotireoidismo Congênito/complicações , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/epidemiologia , Hipotireoidismo Congênito/fisiopatologia , Feminino , Humanos , Recém-Nascido , Masculino , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Prognóstico , Fatores de Risco
19.
J. pediatr. (Rio J.) ; 92(6): 581-587, Nov.-Dec. 2016. tab
Artigo em Inglês | LILACS | ID: biblio-829128

RESUMO

Abstract Objective: The aim of this study is to define the predictors of chronic carditis in patients with acute rheumatic carditis (ARC). Methods: Patients diagnosed with ARC between May 2010 and May 2011 were included in the study. Echocardiography, electrocardiography, lymphocyte subset analysis, acute phase reactants, plasma albumin levels, and antistreptolysin-O (ASO) tests were performed at initial presentation. The echocardiographic assessments were repeated at the sixth month of follow-up. The patients were divided into two groups according to persistence of valvular pathology at 6th month as Group 1 and Group 2, and all clinical and laboratory parameters at admission were compared between two groups of valvular involvement. Results: During the one-year study period, 22 patients had valvular disease. Seventeen (77.2%) patients showed regression in valvular pathology. An initial mild regurgitation disappeared in eight patients (36.3%). Among seven (31.8%) patients with moderate regurgitation initially, the regurgitation disappeared in three, and four patients improved to mild regurgitation. Two patients with a severe regurgitation initially improved to moderate regurgitation (9.1%). In five (22.8%) patients, the grade of regurgitation [moderate regurgitation in one (4.6%), and severe regurgitation in 4 (18.2%)] remained unchanged. The albumin level was significantly lower at diagnosis in Group 2 (2.6 ± 0.48 g/dL). Lymphocyte subset analysis showed a significant decrease in the CD8 percentage and a significant increase in CD19 percentage at diagnosis in Group 2 compared to Group 1. Conclusion: The blood albumin level and the percentage of CD8 and CD19 (+) lymphocytes at diagnosis may help to predict chronic valvular disease risk in patients with acute rheumatic carditis.


Resumo Objetivo: Definir os preditores da cardite crônica em pacientes com cardite reumática aguda (CRA). Métodos: Os pacientes diagnosticados com CRA entre maio de 2010 e maio de 2011 foram incluídos no estudo. Foram feitos os testes de ecocardiografia, eletrocardiograma, uma análise do subgrupo de linfócitos, provas de fase aguda, níveis de albumina plasmática, antiestreptolisina-O (ASO) na manifestação inicial. As avaliações ecocardiográficas foram repetidas no 6º mês de acompanhamento. Os pacientes foram divididos em dois grupos de acordo com a persistência da patologia valvular no 6º mês como Grupo 1 e Grupo 2 e todos os parâmetros clínicos e laboratoriais na internação foram comparados entre dois grupos de comprometimento valvular. Resultados: Durante o período do estudo de um ano, 22 pacientes apresentaram doença valvular; 17 (77,2%) apresentaram regressão da patologia valvular. Houve desaparecimento de regurgitação moderada inicial em oito pacientes (36,3%). Entre sete (31,8%) pacientes com regurgitação moderada inicialmente, a regurgitação desapareceu em três e quatro apresentaram melhoria para regurgitação leve. Dois pacientes com regurgitação grave inicialmente apresentaram melhoria para regurgitação moderada (9,1%). Em cinco (22,8%) pacientes o grau de regurgitação (regurgitação moderada em um [4,6%] e regurgitação grave em quatro [18,2]) continuou inalterado. O nível de albumina foi significativamente menor no diagnóstico no Grupo 2 (2,6 ± 0,48 gr/dL). A análise do subgrupo de linfócitos mostrou uma redução significativa no percentual de CD8 e um aumento significativo no percentual de CD19 no Grupo 2 em comparação com o Grupo 1. Conclusão: O nível de albumina no sangue e o percentual de linfócitos CD8 e CD19 (+) no diagnóstico podem ajudar a prever risco de doença valvular crônica em pacientes com cardite reumática aguda.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Insuficiência da Valva Aórtica/diagnóstico , Cardiopatia Reumática/diagnóstico , Albumina Sérica/análise , Antígenos CD19/imunologia , Insuficiência da Valva Mitral/diagnóstico , Miocardite/diagnóstico , Insuficiência da Valva Aórtica/classificação , Cardiopatia Reumática/sangue , Ecocardiografia Doppler , Doença Aguda , Valor Preditivo dos Testes , Estudos Retrospectivos , Seguimentos , Linfócitos T CD8-Positivos/imunologia , Eletrocardiografia , Insuficiência da Valva Mitral/classificação , Miocardite/sangue , Antiestreptolisina/sangue
20.
Case Reports Immunol ; 2016: 5459029, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27699073

RESUMO

Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.

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