Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: A single-center study

PubMed ID: 20924659Combined immunodeficiency diseases comprise a group of disorders with different molecular basis. Clinical and immunological phenotypes for each group are extremely heterogenous. The frequency of combined immunodeficiencies may vary in different countries. The most frequent forms of combined immunodeficiency show inherited defects in development of T and/or B lymphocytes. These defects are classified according to immunologic phenotype and are categorized into T-B+ or T-B- including forms with or without natural killer lymphocytes. We report here twenty-three patients (female/male: 12/11) with combined immunodeficiency showing different immunological and clinical phenotypes, majority of whom were admitted because of severe upper and lower respiratory tract infections. Mean age of the study group, mean age at onset of the symptoms, and diagnosis were 47.5±42.2, 11.2±17.3, and 19.5±23.8 months, respectively. There was nearly 8 months time delay between beginning of symptoms and diagnosis. Within the combined immunodeficiency phenotypes, T-B-NK+ category was the most frequent phenotype. Consanguinity was positive in 73.9% (n=17) of patients while it was about 80.0% (n=8) in deceased ten children. Bone marrow or umblical cord stem cell transplantation was applied to 11 of them. Three patients deceased after transplantation and seven patients deceased without transplantation. Twelve patients are being followed by prophylactic treatment. In conclusion; combined immunodeficiencies are frequent in our country because of high rate of consanguinity. T-B- combined immunodeficiencies are more often observed, and infants presenting severe infections beginning in the first 3 months of life have to be examined for combined immunodeficiencies. Shortening of time delay in diagnosis will increase success of life-saving treatment. © 2010 Springer Science+Business Media, LLC

Successful management of colchicine resistant familial Mediterranean fever patients with a standardized canakinumab treatment protocol: a case series and literature review

Familial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease characterized by recurrent attacks of fever and serositis. Although colchicine is the first line treatment in FMF, 5–10% of patients do not respond to colchicine. Canakinumab, an anti-IL-1ß monoclonal antibody, has been reported to be effective and safe in colchicine-resistant FMF patients, but the adequate duration and interval of treatment is still a matter of debate. Aim of this study was to evaluate the success of the standardized treatment protocol for canakinumab applied in our Pediatric Rheumatology Department in colchicine-resistant FMF cases with a review of the literature. Nine patients included in this study had indications for canakinumab use as colchicine resistance and recurrent corticosteroid need for pleural/pericardial effusions. Canakinumab was administered monthly for 6 months (initial treatment), bimonthly for 6 months (maintenance treatment), then treatment was discontinued. For the patients who developed a new attack after one-year treatment period, canakinumab was readministered with 3-month intervals (continuation treatment). The mean follow-up time beginning from the first canakinumab injection was 24.3 ± 10.2 (6–33) months. None of the patients had an attack during the first-year treatment. Four of the patients developed an attack 9.0 ± 2.9 (6–12) months after discontinuation of treatment and switched to the continuation treatment period, with no more attacks. We suggest that this standard protocol may be used successfully in colchicine-resistant FMF patients. © 2019, Springer-Verlag GmbH Germany, part of Springer Nature

A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea

Karaca, Neslihan/0000-0002-2202-7082WOS: 000490540000015PubMed: 31132033[No abstract available

Screening Di George Syndrome with "A Single Tube of Blood" in Cases with Congenital Cardiopathies

16th Biennial Meeting of the European-Society-for-Immunodeficiencies -- OCT 29-NOV 01, 2014 -- Prague, CZECH REPUBLICWOS: 000347389100638European Soc Immunodeficiencie