CLINICAL FEATURES AND LABORATORY FINDINGS OF DISREGULATORY SYNDROMES IN AN ARGENTINEAN COHORT
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1
Hospital de Niños Ricardo Gutierrez, Inmunologia, Argentina
INTRODUCTION:The signal transducer and activativator of transcription (STAT) transcription factors are widely expressed in hematological and other cell types, and mutations causing gain or loss of STAT activity have been associated with Primary Immunodeficiency Syndromes. Mutations in STAT genes and associated molecules lead to variable clinical presentations ranging from susceptibility to viral infections to multiorgan autoimmunity, characterized by defects in immune tolerance and carry Primary Immunodeficiencies with Dysregulation (PIDD) and in some cases with involvement of the stature. AIM: Describe the clinical and immunological phenotype presentation of 7 patients (p) with PIDD: CD25 Deficiency (CD25 def.) 1p, Stat 5b def. (STAT5B def.) 3p, IPEX- Like phenotype 2p and 1 p STAT 3 mutation MATERIAL AND METHODS: Retrospective study of 7 medical histories from patients with dysregulation: 1 CD25 deficiency, 2 IPEX-like, 3 STAT5b and 1 STAT3 (GOF) syndromes. RESULTS: Clinical features: 100% enteropathy and Eczema, 86% dismorphic features, 71% short stature, 43% autoimmunity ( DBT, Hypothyroidism, cytopenias, celiac disease), 57% severe Varicella (STAT5b and CD25) and 57% Chronic lung disease (CD25,STAT5b and STAT3). Laboratory: 57% Hipergammaglobulinemia (CD25 , STAT5b ), 43% Hiper IgE (STAT5b, IPEX-Like),28% CD4+ Lymphopenia (STAT5b), 83% elevated CD4 memory cells , 80%altered B cells compartment (low IgM memory, Low Post switched (Ps) and expansion of Ps , 57% low treg cells. STAT3 (GOF) and 1pt with IPEX-like showed low CD4+IL17+ counts. CONCLUSION: The clinical features of these 7 disregulatory patients were homogeneous, with high prevalence of skin and gut compromise followed by the lung disease and different autoimmunities all related with autoantibodies. In the laboratory results were more variable, although a high percentage of patients showed activation of CD4 cells; most of them altered B compartment and low treg cells .The integrity of the STATs signaling is necessary for normal function of Treg cells as for T, NK cells and for maintain the homeostasis of the immune system. The identification of any alteration in this signaling pathway could cause a variety of immune dysregulation syndrome and high susceptibility to herpes infections depending on their genetic defects. In patients with severe compromise in skin and gut, with or without pulmonary compromise and stature impairment, we ought to think in PIDD
Keywords:
inmunodeficiencias,
primarias,
disregulatorias,
Pacientes,
Argentina
Conference:
IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología, Medellin, Colombia, 13 Oct - 16 Oct, 2015.
Presentation Type:
Poster Presentation
Topic:
Immunodeficiencies
Citation:
Seminario
AG,
Esnaola Azcoiti
M,
Caldirola
MS,
Regairaz
L,
Gaillard
MI and
Bezrodnik
L
(2015). CLINICAL FEATURES AND LABORATORY FINDINGS OF DISREGULATORY SYNDROMES IN AN ARGENTINEAN COHORT.
Front. Immunol.
Conference Abstract:
IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología.
doi: 10.3389/conf.fimmu.2015.05.00134
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Received:
05 Apr 2015;
Published Online:
14 Sep 2015.
*
Correspondence:
Ms. Analia G Seminario, Hospital de Niños Ricardo Gutierrez, Inmunologia, CABA, 1425, Argentina, giselaseminario@yahoo.com
Dr. Maria Esnaola Azcoiti, Hospital de Niños Ricardo Gutierrez, Inmunologia, CABA, 1425, Argentina, mesnaolaazcoiti@gmail.com
Dr. Maria S Caldirola, Hospital de Niños Ricardo Gutierrez, Inmunologia, CABA, 1425, Argentina, solecaldirola@fibertel.com.ar
Dr. Lorena Regairaz, Hospital de Niños Ricardo Gutierrez, Inmunologia, CABA, 1425, Argentina, loreregairaz@yahoo.com
Dr. Maria I Gaillard, Hospital de Niños Ricardo Gutierrez, Inmunologia, CABA, 1425, Argentina, migaillard@yahoo.com
Dr. Liliana Bezrodnik, Hospital de Niños Ricardo Gutierrez, Inmunologia, CABA, 1425, Argentina, lbezrodnik@yahoo.com.ar