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1.
BMC Med Genet ; 20(1): 114, 2019 06 26.
Artigo em Inglês | MEDLINE | ID: mdl-31242861

RESUMO

BACKGROUND: Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-HIES). DOCK8 deficiency status characterizes by recurrent infections, atopy, and risk of cancer. Lymphoproliferative disease complicating PID, is difficult to diagnose. Our aim is to present a rare case of PID, and to the best of our knowledge, she is the first case of DOCK8 deficiency from Iraq. The genetic diagnosis was carried out in Japan using dried blood spot-based DNA transfer and whole-exome sequencing. CASE PRESENTATION: An 11-year-old Iraqi girl, of double first-cousin-parents, had a history of severe eczema, food allergy, and repeated infections. She presented with a jaw mass, bilateral cervical and axillary lymphadenopathy, and immunoglobulin (Ig) assays of 20, 3.3 and 1.7-fold above maximum normal level for age of IgE, IgA and IgG, respectively, along with a low IgM, eosinophilia and lymphopenia. Based on the jaw mass biopsy, non-Hodgkin lymphoma was suggested in Iraq, whereas histopathological re-evaluation in Japan revealed the diagnosis of a polyclonal reactive proliferation spectrum of lymphoproliferative disorders/plasmacytic hyperplasia, complicating PID. Whole-exome sequencing supported the diagnosis of PID by identifying a homozygous DOCK8 mutation with previously reported pathogenicity (NM_203447:c.3332delT, p.Phe1113Leufs*2), that may be attributed to consanguinity. CONCLUSIONS: International collaboration using an effective DNA transportation technique and next-generation sequencing was the key to pinpoint the diagnosis of DOCK8 deficiency. Our case asserted that careful pathogenetic evaluation, in an advanced setting, was crucial for ruling out the neoplastic process. Pediatricians in areas with a high prevalence of consanguinity marriage should have a high index of suspicion of DOCK8 deficiency in patients with recalcitrant eczema, and frequent respiratory and skin infectious episodes.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Mutação , Sequenciamento Completo do Exoma/métodos , Anticorpos/sangue , Criança , Consanguinidade , DNA/sangue , Eosinofilia/imunologia , Feminino , Homozigoto , Humanos , Iraque , Japão , Arcada Osseodentária/patologia , Síndrome de Job/diagnóstico por imagem , Síndrome de Job/imunologia , Síndrome de Job/patologia , Linfopenia/imunologia , Transtornos Linfoproliferativos/genética , Linhagem
2.
Allergol. immunopatol ; 47(2): 152-158, mar.-abr. 2019. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-180803

RESUMO

Introduction and objectives: Long-term follow up of patients with hyper IgE syndrome (HIES), as a primary immunodeficiency disorder, has been poorly investigated. This study describes common clinical and immunological features of patients with HIES in the last 10 years in Shiraz University of Medical Sciences, Shiraz, Iran. Methods and patients: In this cross-sectional study, the symptoms and medical records of 18 patients, who were diagnosed with HIES, were observed. Genetic and immunologic study was also performed. Results: Eighteen patients with the mean age of 13 years old were investigated. Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES). So, 14 patients with known genetic results were considered for further data analysis. Food allergy, eczema, viral and skin infections were the major complications of AR-HIES patients. The major clinical complications of AD-HIES patients were pneumonia, skin infections and eczema. Food allergy and viral infection were significantly higher in DOCK8 deficient patients. The most common causes of hospitalization in both AR-HIES and AD-HIES patients were pneumonia, skin infections and sepsis. The most common cause of death was found to be sepsis. Conclusions; AD-HIES and AR-HIES cannot be differentiated only based on the clinical presentations. Genetic features are also necessary for better diagnosis. This study, summarizing the clinical, immunological and genetic information of the patients with AD-HIES and AR-HIES, may open a way for better diagnosis and management of HIES


No disponible


Assuntos
Humanos , Masculino , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Hipersensibilidade Alimentar/imunologia , Síndrome de Job/imunologia , Mutação/genética , Pneumonia/imunologia , Seguimentos , Hipersensibilidade Alimentar/genética , Predisposição Genética para Doença , Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Fenótipo , Pneumonia/genética , Fator de Transcrição STAT3/genética
3.
Medicine (Baltimore) ; 98(6): e14003, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30732127

RESUMO

RATIONALE: Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. To date, only about 500 cases have been reported worldwide including 37 cases in China. The spectrum and prevalence of mutations and molecular pathogenesis in HIES remain poorly understood. PATIENT CONCERNS: Here we reported two Chinese children presenting clinical manifestations of HIES. DIAGNOSIS: Based on medical history, clinical manifestations, and laboratory findings, a diagnosis of HIES was made for both children. Targeted next-generation sequencing (NGS) identified a novel heterozygous deletion of 15 bp (c.1960_1974del, p.G654_D658del or alternatively c.1966_1980del, and p.G656_D660del), and a recurrent missense mutation (c.1144C>T, p.R382W) in STAT3 in the two patients, respectively. INTERVENTIONS: The two patients have been given the successful treatment of skin infections with cefaclor. OUTCOMES: Both patients have been under follow-up for more than 6 months, with no signs of recurrent infections. LESSONS: Our results extend the spectrum of STAT3 mutations associated with ADHIES and highlight the value of targeted NGS in confirming diagnosis of genetic disorders.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Fator de Transcrição STAT3/genética , Antibacterianos/uso terapêutico , Cefaclor/uso terapêutico , Criança , China , Feminino , Humanos , Síndrome de Job/complicações , Masculino , Dermatopatias Bacterianas/tratamento farmacológico , Dermatopatias Bacterianas/etiologia
5.
Medicine (Baltimore) ; 97(14): e0215, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29620631

RESUMO

Hyperimmunoglobulin E syndromes (HIES) are rare primary immunodeficiency diseases characterized by markedly elevated serum immunoglobulin (Ig) E, recurrent pneumonia, and chronic eczema. To date, information about pediatric HIES is limited. We aimed to evaluate the spectrum of clinical and immunological features in pediatric patients with HIES in China.We retrospectively reviewed the cases of 4 pediatric patients with HIES followed at the Guangzhou Women and Children's Medical Center from May 2013 to September 2017. We analyzed clinical presentation, laboratory data, immunological evaluations, imagenological characteristics, treatment, response to therapy, genetic and bronchoalveolar lavage fluid (BALF) findings, and prognosis.The common clinical features of the patients were recurrent respiratory and mucocutaneous infections and eczematoid skin lesions. In 3 of 4 patients, BALF and transbronchial lung biopsy (TBLB) demonstrated fungal pneumonia with organisms including invasive Aspergillus and Penicillium marneffei. Elevated serum IgG and IgM were detected in 3 and 2 cases, respectively, while CD4+ T and CD19+ B cells were slightly reduced in only 1 patient. Nitroblue tetrazolium tests (NBTs) were normal in all patients, and reduced natural killer cell counts were identified in 3 patients. A novel missense mutation in exon 17 (c.1593A>T, p.K531N) was identified in the signal transducer and activator of transcription 3 (STAT3) gene that has not been reported previously. One patient had 3 homozygous nonsynonymous variations of the complement receptor 2 (CR2) gene distributed in exons 10 (c.1916G>A, p.S639N) and 11 (c.1987T>C, p.S663P and c.2012G>A, p.R671H) with high frequency.This case series suggests that fungi are important respiratory pathogens in children with HIES and should be considered in cases of pneumonia in this population. The NIH scoring system does not allow diagnostic certainty, particularly in infants, because some of the common manifestations of HIES may not develop until the patient matures. Pulmonary complications must be identified in the early stage of the disease to treat them effectively. In addition, we report a mutation in STAT3 that has not been identified previously.


Assuntos
Síndrome de Job , Adolescente , Criança , Pré-Escolar , China , Eczema/imunologia , Feminino , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Síndrome de Job/genética , Síndrome de Job/imunologia , Síndrome de Job/microbiologia , Pneumopatias Fúngicas/imunologia , Pneumopatias Fúngicas/microbiologia , Masculino , Pneumonia/imunologia , Pneumonia/microbiologia , Estudos Retrospectivos
7.
Front Immunol ; 9: 3047, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30671054

RESUMO

The induction and action of type I interferon (IFN) is of fundamental importance in human immune defenses toward microbial pathogens, particularly viruses. Basic discoveries within the molecular and cellular signaling pathways regulating type I IFN induction and downstream actions have shown the essential role of the IFN regulatory factor (IRF) and the signal transducer and activator of transcription (STAT) families, respectively. However, the exact biological and immunological functions of these factors have been most clearly revealed through the study of inborn errors of immunity and the resultant infectious phenotypes in humans. The spectrum of human inborn errors of immunity caused by mutations in IRFs and STATs has proven very diverse. These diseases encompass herpes simplex encephalitis (HSE) and severe influenza in IRF3- and IRF7/IRF9 deficiency, respectively. They also include Mendelian susceptibility to mycobacterial infection (MSMD) in STAT1 deficiency, through disseminated measles infection associated with STAT2 deficiency, and finally staphylococcal abscesses and chronic mucocutaneous candidiasis (CMC) classically described with Hyper-IgE syndrome (HIES) in the case of STAT3 deficiency. More recently, increasing focus has been on aspects of autoimmunity and autoinflammation playing an important part in many primary immunodeficiency diseases (PID)s, as exemplified by STAT1 gain-of-function causing CMC and autoimmune thyroiditis, as well as a recently described autoinflammatory syndrome with hypogammaglobulinemia and lymphoproliferation as a result of STAT3 gain-of-function. Here I review the infectious, inflammatory, and autoimmune disorders arising from mutations in IRF and STAT transcription factors in humans, highlightning the underlying molecular mechanisms and immunopathogenesis as well as the clinical/therapeutic perspectives of these new insights.


Assuntos
Candidíase Mucocutânea Crônica/metabolismo , Encefalite por Herpes Simples/metabolismo , Influenza Humana/metabolismo , Fatores Reguladores de Interferon/metabolismo , Síndrome de Job/metabolismo , Infecções por Mycobacterium/metabolismo , Fatores de Transcrição STAT/metabolismo , Autoimunidade , Candidíase Mucocutânea Crônica/genética , Candidíase Mucocutânea Crônica/imunologia , Encefalite por Herpes Simples/genética , Encefalite por Herpes Simples/imunologia , Humanos , Imunidade Inata , Influenza Humana/genética , Influenza Humana/imunologia , Fatores Reguladores de Interferon/genética , Fatores Reguladores de Interferon/imunologia , Interferon Tipo I/imunologia , Interferon Tipo I/metabolismo , Janus Quinases/metabolismo , Síndrome de Job/genética , Síndrome de Job/imunologia , Mutação , Infecções por Mycobacterium/genética , Infecções por Mycobacterium/imunologia , Receptor de Interferon alfa e beta/metabolismo , Fatores de Transcrição STAT/genética , Fatores de Transcrição STAT/imunologia
10.
J Clin Immunol ; 37(2): 166-179, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28197791

RESUMO

PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency disease (PID). Signal transducer and activator of transcription 3 (STAT3) gene mutation is found to cause AD-HIES. The distribution of AD-HIES patients with STAT3 deficiency in the Chinese population is not clear. Herein, we retrospectively report 17 AD-HIES patients with STAT3 deficiency and demonstrate their clinical, immunological, and genetic features. METHODS: Patients' clinical data were collected from their medical records. Routine laboratory testing results included lymphocyte subset analysis and immunoglobulin quantification. STAT3 mutations were investigated by sequencing of genomic DNA. RESULTS: Among 575 patients with PID, 28 (4.87%) were clinically diagnosed as HIES. Among them, 17 (2.96%) were confirmed as STAT3 mutant AD-HIES. The ratio of male to female patients was 8:9. All of the 17 patients had NIH scores over 40 points. The mean ages at onset and diagnosis were 1.05 and 10.35 years, respectively. Three patients (17.65%, 3/17) died with a mean age of 13.33 years. Eczema, recurrent skin infection, and respiratory tract infection were the most common clinical symptoms and are present in all of the 17 patients in this study. Six patients (37.5%, 6/16) suffered complication from BCG vaccination. Noninfection symptoms are characteristic facial features in 17 patients (100%, 17/17), retention of primary teeth in 10 patients (90.91%, 10/11), and abnormal bone fractures in 7 patients (41.18%, 7/17). Eleven types of STAT3 mutations were identified in 17 patients, including 1 novel mutation. CONCLUSIONS: We here retrospectively report the largest Chinese cohort of AD-HIES patients with STAT3 mutation. Unique features, when compared to existing literature reports, include (1) later age of diagnosis, (2) significantly higher rate of BCG complications, and (3) lower rate of candidiasis and chronic otitis media.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Síndrome de Job/diagnóstico , Síndrome de Job/genética , Fenótipo , Adolescente , Adulto , Criança , Pré-Escolar , China , Eosinófilos , Feminino , Humanos , Imunoglobulina E/sangue , Imunoglobulina E/imunologia , Imunofenotipagem , Síndrome de Job/complicações , Síndrome de Job/imunologia , Contagem de Leucócitos , Contagem de Linfócitos , Masculino , Mutação , Fator de Transcrição STAT3/genética , Avaliação de Sintomas , Adulto Jovem
12.
Immunol Res ; 65(3): 651-657, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28070732

RESUMO

Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 gene by a retrospective medical record review. Ten patients from five consanguineous families and three tribes were included. Seven patients were homozygous for the c.C5134A, p.S1711X mutation, and the remaining three patients were their siblings manifesting hyper IgE syndrome features without a genetic diagnosis. Prior to the genetic diagnosis, the clinical diagnosis was "hyper IgE syndrome" in six patients and "anti-pneumococcal antibody deficiency," "recurrent pneumonia with bronchiectasis," and "asthma with hypereosinophilic syndrome" each diagnosed once. One additional patient was diagnosed due to family history. The age of presentation varied from 1 to 16 months. Eczema was diagnosed in all patients, food allergies in three, and severe herpes keratitis or malignancy or autoimmunity in two patients. Elevated IgE was recorded in nine patients; however, in six patients, the initial serum IgE concentration was equal to or less than three times the normal concentration for age, and in these patients, the median age at IgE evaluation was 7.5 months compared with 21.5 months in patients with an initial IgE concentration above three times the normal concentration for age (P = 0.067). The spectrum of disease manifestations in patients with a unique mutation in DOCK8 is variable. The genotype-phenotype correlations may be modified by genetic and/or epigenetic modifiers beyond the monogenic effect. Younger patients tend to have lower IgE concentrations at the initial measurement of IgE.


Assuntos
Asma/imunologia , Bronquiectasia/imunologia , Eczema/imunologia , Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/imunologia , Mutação/genética , Pneumonia Pneumocócica/imunologia , Adolescente , Fatores Etários , Árabes , Criança , Pré-Escolar , Consanguinidade , Genótipo , Humanos , Imunoglobulina E/sangue , Lactente , Síndrome de Job/genética , Linhagem , Fenótipo , Recidiva , Estudos Retrospectivos , Adulto Jovem
13.
Clin Immunol ; 178: 39-44, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27890707

RESUMO

BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Different mutations in the DOCK8 gene can lead to variable severity of the disease. OBJECTIVE: We evaluated the genetic mutations in three related patients with severe clinical manifestations suggestive of AR HIES. We also explored whether treatment with stem cell transplantation could lead to complete disease resolution. METHOD: We examined the clinical manifestations and immunological workup of these patients. Their DNA was also screened for causative mutation. Post transplantation, clinical and immunological data for the transplanted patient was also collected. RESULTS: All patients had a severe course of the disease with rarely reported severe complications in HIES. One patient died with lymphoma while another died with progressive multifocal leukoencephalopathy (PML) due to a slow virus. All our patients had two novel mutations in the DOCK8 gene. One of these mutations was a novel pathogenic mutation and explains the severity of the disease (homozygous splice site mutation at position 5 after the end of exon 45), while the other mutation was mostly non-pathogenic. Hematopoietic stem cell transplantation (HSCT) was performed in the youngest patient with excellent engraftment and full reversibility of the clinical manifestations. CONCLUSION: We report 3 patients from a consanguineous family diagnosed with AR-HIES due to a novel pathogenic mutation in DOCK8 gene leading to fatal outcome in 2 patients and complete resolution of the clinical and immunological features in the third patient by HSCT.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Adolescente , Neoplasias das Glândulas Suprarrenais/etiologia , Neoplasias das Glândulas Suprarrenais/virologia , Criança , Pré-Escolar , Colangite Esclerosante/etiologia , Consanguinidade , Eczema/etiologia , Eosinofilia/etiologia , Infecções por Vírus Epstein-Barr/etiologia , Esofagite/etiologia , Feminino , Transplante de Células-Tronco Hematopoéticas , Herpes Simples/etiologia , Humanos , Síndrome de Job/complicações , Síndrome de Job/imunologia , Síndrome de Job/terapia , Leiomioma/etiologia , Leiomioma/virologia , Leucoencefalopatia Multifocal Progressiva/diagnóstico por imagem , Leucoencefalopatia Multifocal Progressiva/etiologia , Leucoencefalopatia Multifocal Progressiva/patologia , Linfoma Difuso de Grandes Células B/etiologia , Linfoma Difuso de Grandes Células B/virologia , Imagem por Ressonância Magnética , Masculino , Mutação de Sentido Incorreto , Neoplasias Nasofaríngeas/etiologia , Neoplasias Nasofaríngeas/virologia , Linhagem , Recidiva , Infecções Estafilocócicas/etiologia , Adulto Jovem
15.
Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 31(11): 892-896, 2017 Jun 05.
Artigo em Chinês | MEDLINE | ID: mdl-29775011

RESUMO

A hyper-IgE syndrome is a rare immunodeficiesncy disease, often accompanied by high serum IgE. It often characterized by facial features, repeated skin infections, eczema and pulmonary infection, including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). AR-HIES is caused by mutations in STAT3, which is presented as connective tissue, bone, vascular disease, and high brain white matter signal. AD-HIES is mainly caused by mutations in DOCK8 and TYK2, which is presented as severe viral infection and poor prognosis. The treatment for Hyper-IgE syndromes is mainly to control infection, skin care and other symptomatic treatment, if necessary, should be done as early as possible hematopoietic stem cell transplantation. This article reviews the clinical manifestations, pathogenesis and treatment of high IgE syndrome.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Fator de Transcrição STAT3/genética , TYK2 Quinase/genética , Eczema , Predisposição Genética para Doença , Transplante de Células-Tronco Hematopoéticas , Síndrome de Job/diagnóstico , Mutação , Fator de Transcrição STAT3/metabolismo
16.
Sci Rep ; 6: 33274, 2016 09 16.
Artigo em Inglês | MEDLINE | ID: mdl-27633343

RESUMO

Bacterial resistance against classical antibiotics is a growing problem and the development of new antibiotics is limited. Thus, novel alternatives to antibiotics are warranted. Antimicrobial peptides (AMPs) are effector molecules of innate immunity that can be induced by several compounds, including vitamin D and phenyl-butyrate (PBA). Utilizing a luciferase based assay, we recently discovered that the histone deacetylase inhibitor Entinostat is a potent inducer of the CAMP gene encoding the human cathelicidin LL-37. Here we investigate a mechanism for the induction and also find that Entinostat up-regulates human ß-defensin 1. Analysis of the CAMP promoter sequence revealed binding sites for the transcription factors STAT3 and HIF-1α. By using short hairpin RNA and selective inhibitors, we found that both transcription factors are involved in Entinostat-induced expression of LL-37. However, only HIF-1α was found to be recruited to the CAMP promoter, suggesting that Entinostat activates STAT3, which promotes transcription of CAMP by increasing the expression of HIF-1α. Finally, we provide in vivo relevance to our findings by showing that Entinostat-elicited LL-37 expression was impaired in macrophages from a patient with a STAT3-mutation. Combined, our findings support a role for STAT3 and HIF-1α in the regulation of LL-37 expression.


Assuntos
Benzamidas/farmacologia , Catelicidinas/genética , Inibidores de Histona Desacetilases/farmacologia , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Síndrome de Job/genética , Piridinas/farmacologia , Fator de Transcrição STAT3/genética , Peptídeos Catiônicos Antimicrobianos , Catelicidinas/agonistas , Catelicidinas/metabolismo , Genes Reporter , Células HEK293 , Células HT29 , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/agonistas , Subunidade alfa do Fator 1 Induzível por Hipóxia/antagonistas & inibidores , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Síndrome de Job/imunologia , Síndrome de Job/patologia , Leucócitos Mononucleares/citologia , Leucócitos Mononucleares/efeitos dos fármacos , Leucócitos Mononucleares/imunologia , Luciferases/genética , Luciferases/metabolismo , Macrófagos/efeitos dos fármacos , Macrófagos/imunologia , Macrófagos/patologia , Cultura Primária de Células , Regiões Promotoras Genéticas , Ligação Proteica , RNA Interferente Pequeno/genética , RNA Interferente Pequeno/metabolismo , Fator de Transcrição STAT3/agonistas , Fator de Transcrição STAT3/antagonistas & inibidores , Fator de Transcrição STAT3/metabolismo , Transdução de Sinais , Ativação Transcricional
17.
Clin Chest Med ; 37(3): 557-67, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27514600

RESUMO

Elevated serum IgE has many etiologies including parasitic infection, allergy and asthma, malignancy, and immune dysregulation. The hyper-IgE syndromes caused by mutations in STAT3, DOCK8, and PGM3 are monogenic primary immunodeficiencies associated with high IgE, eczema, and recurrent infections. These primary immunodeficiencies are associated with recurrent pneumonias leading to bronchiectasis; however, each has unique features and genetic diagnosis is essential in guiding therapy, discussing family planning, and defining prognosis. This article discusses the clinical features of these primary immunodeficiencies with a particular focus on the pulmonary manifestations and discussion of the genetics, pathogenesis, and approaches to therapy.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Pneumopatias/genética , Fosfoglucomutase/genética , Fator de Transcrição STAT3/genética , Humanos , Síndrome de Job/imunologia , Síndrome de Job/terapia , Pneumopatias/imunologia , Pneumopatias/terapia , Mutação
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