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    DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients
    (Springer New York LLC, 2015) Aydin S.E.; Kilic S.S.; Aytekin C.; Kumar A.; Porras O.; Kainulainen L.; Kostyuchenko L.; Genel F.; Kütükcüler N.; Karaca N.; Gonzalez-Granado L.; Abbott J.; Al-Zahrani D.; Rezaei N.; Baz Z.; Thiel J.; Ehl S.; Marodi L.; Orange J.S.; Sawalle-Belohradsky J.; Keles S.; Holland S.M.; Sanal Ö.; Ayvaz D.C.; Tezcan I.; Al-Mousa H.; Alsum Z.; Hawwari A.; Metin A.; Matthes-Martin S.; Hönig M.; Schulz A.; Picard C.; Barlogis V.; Gennery A.; Ifversen M.; van Montfrans J.; Kuijpers T.; Bredius R.; Dückers G.; Al-Herz W.; Pai S.-Y.; Geha R.; Notheis G.; Schwarze C.-P.; Tavil B.; Azik F.; Bienemann K.; Grimbacher B.; Heinz V.; Gaspar H.B.; Aydin R.; Hagl B.; Gathmann B.; Belohradsky B.H.; Ochs H.D.; Chatila T.; Renner E.D.; Su H.; Freeman A.F.; Engelhardt K.; Albert M.H.
    Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused on clinical presentation and therapeutic measures, a total of 136 patients with a median follow-up of 11.3 years (1.3–47.7) spanning 1693 patient years, were enrolled. Eczema, recurrent respiratory tract infections, allergies, abscesses, viral infections and mucocutaneous candidiasis were the most frequent clinical manifestations. Overall survival probability in this cohort [censored for hematopoietic stem cell transplantation (HSCT)] was 87 % at 10, 47 % at 20, and 33 % at 30 years of age, respectively. Event free survival was 44, 18 and 4 % at the same time points if events were defined as death, life-threatening infections, malignancy or cerebral complications such as CNS vasculitis or stroke. Malignancy was diagnosed in 23/136 (17 %) patients (11 hematological and 9 epithelial cancers, 5 other malignancies) at a median age of 12 years. Eight of these patients died from cancer. Severe, life-threatening infections were observed in 79/136 (58 %); severe non-infectious cerebral events occurred in 14/136 (10 %). Therapeutic measures included antiviral and antibacterial prophylaxis, immunoglobulin replacement and HSCT. This study provides a comprehensive evaluation of the clinical phenotype of DOCK8 deficiency in the largest cohort reported so far and demonstrates the severity of the disease with relatively poor prognosis. Early HSCT should be strongly considered as a potential curative measure. © 2015, Springer Science+Business Media New York.
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    Molecular and morphological evidence for a new subspecies of Fazila’s Lycian Salamander Lyciasalamandra fazilae in South-west Anatolia
    (Taylor and Francis Ltd., 2018) Göçmen B.; Ehl S.; Karış M.; Thiesmeier B.; Kordges T.
    A new subspecies of the Fazila’s Lycian Salamander Lyciasalamandra fazilae is described based on material from ten localities in the Köyceğiz, Ortaca and Dalaman area in south-western Turkey. It is distinguished from the nominotypical subspecies by differences in the colouration pattern, morphometry and the mitochondrial molecular marker 16S rRNA. The distribution area of the new subspecies is located mainly in the western part of Dalaman River except for two seemingly intermediate populations (Şerefler and Sarsala-Kapıkargın). New localities for the species are reported. © 2018, © 2018 Taylor & Francis.
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    Two new populations of Lyciasalamandra flavimembris substantially extend the genus' distribution range in Anatolia
    (Universitatea din Oradea, 2020) Oğuz M.A.; Göçmen B.; Kariş M.; Ehl S.; Veith M.
    We report on two new populations of Lyciasalamandra flavimembris from Bodrum/Muğla, based on fieldwork in March 2018. We studied the new populations morphologically and genetically (16SrDNA). According to these records, the known distribution range of the genus is extended about 40 km to the West. Morphologically and genetically, specimens from these two populations show similarities to both subspecies described so far. © Biharean Biologist, Oradea, Romania, 2020
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    ß2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system
    (Mosby Inc., 2015) Ardeniz Ö.; Unger S.; Onay H.; Ammann S.; Keck C.; Cianga C.; Gerçeker B.; Martin B.; Fuchs I.; Salzer U.; Ikincio?ullari A.; Gülo?lu D.; Dereli T.; Thimme R.; Ehl S.; Schwarz K.; Schmitt-Graeff A.; Cianga P.; Fisch P.; Warnatz K.
    Background Most patients with MHC class I (MHC-I) deficiency carry genetic defects in transporter associated with antigen processing 1 (TAP1) or TAP2. The clinical presentation can vary, and about half of the patients have severe skin disease. Previously, one report described ß2-microglobulin (ß2m) deficiency as another monogenetic cause of MHC-I deficiency, but no further immunologic evaluation was performed. Objective We sought to describe the molecular and immunologic features of ß2m deficiency in 2 Turkish siblings with new diagnoses. Methods Based on clinical and serologic findings, the genetic defect was detected by means of candidate gene analysis. The immunologic characterization comprises flow cytometry, ELISA, functional assays, and immunohistochemistry. Results Here we provide the first extensive clinical and immunologic description of ß2m deficiency in 2 siblings. The sister had recurrent respiratory tract infections and severe skin disease, whereas the brother was fairly asymptomatic but had bronchiectasis. Not only polymorphic MHC-I but also the related CD1a, CD1b, CD1c, and neonatal Fc receptor molecules were absent from the surfaces of ß2m-deficient cells. Absent neonatal Fc receptor surface expression led to low serum IgG and albumin levels in both siblings, whereas the heterozygous parents had normal results for all tested parameters except ß2m mRNA (B2M) expression. Similar to TAP deficiency in the absence of a regular CD8 T-cell compartment, CD8+ ?? T cells were strongly expanded. Natural killer cells were normal in number but not "licensed to kill." Conclusion The clinical presentation of patients with ß2m deficiency resembles that of patients with other forms of MHC-I deficiency, but because of the missing stabilizing effect of ß2m on other members of the MHC-I family, the immunologic defect is more extensive than in patients with TAP deficiency. © 2015 American Academy of Allergy, Asthma & Immunology.