A Wiskott–Aldrich-szindróma ritka, X-kromoszómához kötött, recesszív öröklődésmenetű, primer immundefektus, amelyet microthrombocytopenia, ekcéma és visszatérő fertőzések jellemeznek. A közlemény részletesen taglalja a Wiskott–Aldrich-szindróma molekuláris patológiáját, diagnosztikáját és klinikumát.
northern blot analysis of neutrophils or monocytes [ 6 ].
HIGM: It was characterized by recurrentinfections, decreased serum levels of immunoglobulin G (IgG) and immunoglobulin A (IgA), and normal/increased serum
Authors:Szabolcs Vigvári, Áron Vincze, Jenő Solt, Dávid Sipos, Zsófia Feiszt, Beáta Kovács, Ágnes Kappéter, and Zoltán Péterfi
We performed FMT on a total of 60 patients, of whom 37 (61.67%) were females. The mean age was 71.48 years, including a range from 26 to 88 years of age. The average number of recurrentinfections was 2.24 (range: 0–8). In 40 cases
Authors:Turkan Patiroglu, H. Haluk Akar, Mirjam van der Burg, and Ekrem Unal
The hyper-immunoglobulin M (HIGM) syndrome is a heterogeneous group of genetic disorders characterized by recurrent infections, decreased serum levels of immunoglobulin G (IgG) and IgA, and normal/increased serum levels of IgM. Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C>T, p.Arg24Trp) in the activation-induced cytidine deaminase gene which results in autosomal recessive HIGM syndrome. Two of the siblings, sibling 1 and sibling 3, presented with cervical deep abscess and cervical tuberculosis lymphadenitis, respectively.
Authors:Setareh Mamishi, Faezeh Ahmadi, Maedeh Ahmadi, and Nima Rezaei
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease, affecting phagocytic blood cells, which predispose patients to recurrent infectious complications. Herein, an 11-year-old girl is described who presented with liver abscess at the age of 9 years. Positive dihydrorhodamine (DHR) and nitrobluetetrazolium (NBT) tests confirmed the diagnosis of CGD for the patient. Anti-tuberculosis drugs and parenteral antibiotic therapy were started. Unusual visceral abscess and recurrent infections should be considered as an alarm for primary immunodeficiency diseases, while early diagnosis and appropriate treatment could prevent severe complications and even death in this group of patients.
Authors:Ugur Gonlugur, E. Sahin, E. Yildiz, and Tanseli E. Gonlugur
Thymoma has been associated with a variety of autoimmune disorders. We report a case of myasthenia gravis and pancytopenia in a 53-year-old man with lymphoepithelial thymoma and interstitial lung disease. Preoperative examination revealed neither hematologic abnormality nor myasthenia gravis. The patient had enteritis prior to thymomectomy, sternal infection in the first month of operation, and urinary infection at the third month. About three months after thymomectomy, he required mechanical ventilation support due to myasthenia gravis-related respiratory failure. One month later, a rapidly progressing pancytopenia developed. The patient died within two weeks of overwhelming septicemia unresponsive to treatment with antibiotics and steroids. The possible onset of myasthenia gravis or pancytopenia after thymomectomy should be kept in mind during follow-up. Recurrent infections in the early stages of thymomectomy may suggest a lethal onset of pancytopenia.
Authors:Anne Katrine Blaabjerg, Anna Holst Schumacher, Bjørn Kantsø, Lena Hagelskjær Kristensen, and Helga Schumacher
This is the first case report of recurrent invasive pneumococcal disease (IPD), specifically, due to serotype 12F. The patient described here was vaccinated with the 23-valent pneumococcal polysaccharide vaccine (PPV23) due to previous splenectomy, and an anti-pneumococcal IgG test concluded that she had responded sufficiently to vaccination. Still, she had a fulminate recurrent infection with PPV23 serotype 12F. We investigated the anti-pneumococcal IgG test, and it turned out that it is based on the geometric mean value of only 12 of the serotypes included in PPV23; 12F is none of them. The reason is that there are no titer cut-offs available for 11 of the PPV23 serotypes, including 12F, neither nationally nor internationally. Yet, this is not specified in the answer to the clinicians. This case illustrates the need for titer cut-offs for the remaining pneumococcal serotypes in available vaccines, in order to get a more accurate estimation of the vaccination coverage for the individual patient. Therefore, more research on this area is warranted, along with a discussion of whether the laboratory answers to the clinicians should be more detailed.
Authors:Turkan Patiroglu, Hatice Gungor, and Ekrem Unal
Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders that genetically affect distinct components of the immune system; thus, predispose individuals to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (ADs), which developed during the course of PID in children, were discussed.Twenty-five patients were included in this study. Symptoms related to ADs, such as autoimmune thyroiditis, type 1 diabetes mellitus, coeliac disease, juvenile idiopathic arthritis, dermatomyositis, autoimmune haemolytic anaemia, leukocytoclastic vasculitis, Henoch-Schonlein purpura, hypoparathyroidism, alopecia areata, Addison’s disease, vitiligo and systemic lupus erythematosus were detected in these patients, who have been followed with diagnosis of PID including common variable immunodeficiency, selective and partial IgA deficiency, Wiskott-Aldrich syndrome, ataxia telangiectasia, hyperimmunoglobulin E syndrome, chronic mucocutaneous candidiasis, Griscelli syndrome, and partial C4 deficiency.Immunodeficiency and autoimmune phenomenon may concomitantly present in an individual, although they seem to be incompatible ends in the spectrum of the clinical immune response. Patients with primary immune deficiency should be closely monitored for development of autoimmune diseases.
Authors:Pálma Juhász, Beáta Tóth, László Maródi, and Melinda Erdős
A Gaucher-kór a leggyakoribb autoszomális recesszíven öröklődő tárolási betegség, amelynek kialakulásáért a béta-glükocerebrozidázt kódoló gén mutációja felelős. Az enzimdefektus következtében glükocerebrozidok halmozódnak fel a macrophagokban, elsősorban a csontvelőben, a lépben és a májban. A klinikai képet hepatosplenomegalia, csontfájdalom és patológiás törések, valamint a pancytopenia miatt fáradékonyság, vérzékenység és visszatérő fertőzések jellemzik. A terápiát az enzimpótló kezelés jelenti, amely 1992 óta Magyarországon is elérhető. A rendszeres, kéthetente történő enzimszubsztitúciós terápia hatására a lép- és májvolumen rendeződik, a pancytopenia megszűnik és csökken a csontinfiltráció mértéke. A betegség kimenetele szempontjából a korai diagnózisnak és az időben megkezdett enzimpótló kezelésnek óriási jelentősége van, amelyet a szerzők a közleményükben bemutatott két esettel is szeretnének hangsúlyozni. Orv. Hetil., 2012, 153, 264–270.