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1. Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans

Author

Cildir, Gökhan, Aba, Umran, Pehlivan, Damla, Tvorogov, Denis, Warnock, Nicholas I., Ipsir, Canberk, Arik, Elif, Kok, Chung Hoow, Bozkurt, Ceren, Tekeoglu, Sidem, Inal, Gaye, Cesur, Mahmut, Kucukosmanoglu, Ercan, Karahan, Ibrahim, Savas, Berna, Balci, Deniz, Yaman, Ayhan, Demirbaş, Nazli Deveci, Tezcan, Ilhan, Haskologlu, Sule, Dogu, Figen, Ikinciogulları, Aydan, Keskin, Ozlem, Tumes, Damon J., and Erman, Baran

Published
2024
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2. Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

Author

Erman, Baran, Aba, Umran, Ipsir, Canberk, Pehlivan, Damla, Aytekin, Caner, Cildir, Gökhan, Cicek, Begum, Bozkurt, Ceren, Tekeoglu, Sidem, Kaya, Melisa, Aydogmus, Cigdem, Cipe, Funda, Sucak, Gulsan, Eltan, Sevgi Bilgic, Ozen, Ahmet, Barıs, Safa, Karakoc-Aydiner, Elif, Kıykım, Ayca, Karaatmaca, Betul, Kose, Hulya, Uygun, Dilara Fatma Kocacık, Celmeli, Fatih, Arikoglu, Tugba, Ozcan, Dilek, Keskin, Ozlem, Arık, Elif, Aytekin, Elif Soyak, Cesur, Mahmut, Kucukosmanoglu, Ercan, Kılıc, Mehmet, Yuksek, Mutlu, Bıcakcı, Zafer, Esenboga, Saliha, Ayvaz, Deniz Çagdaş, Sefer, Asena Pınar, Guner, Sukrü Nail, Keles, Sevgi, Reisli, Ismail, Musabak, Ugur, Demirbas, Nazlı Deveci, Haskologlu, Sule, Kilic, Sara Sebnem, Metin, Ayse, Dogu, Figen, Ikinciogulları, Aydan, and Tezcan, Ilhan

Published
2024
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3. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Author

Park, Ann Y., Leney-Greene, Michael, Lynberg, Matthew, Gabrielski, Justin Q., Xu, Xijin, Schwarz, Benjamin, Zheng, Lixin, Balasubramaniyam, Arasu, Ham, Hyoungjun, Chao, Brittany, Zhang, Yu, Matthews, Helen F., Cui, Jing, Yao, Yikun, Kubo, Satoshi, Chanchu, Jean Michel, Morawski, Aaron R., Cook, Sarah A., Jiang, Ping, Ravell, Juan C., Cheng, Yan H., George, Alex, Faruqi, Aiman, Pagalilauan, Alison M., Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D., Aluri, Jahnavi, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, Caroline, Omar, Habib, Xu, Leilei, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, Elif, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul Jimenez, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P., Pearce, Erika L., Daumke, Oliver, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, Kaan, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, David, Vilarinho, Silvia, Baris, Safa, Ozen, Ahmet, Su, Helen C., and Lenardo, Michael J.

Published
2024
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4. Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update

Author

Adelon, Jihane, Abolhassani, Hassan, Esenboga, Saliha, Fouyssac, Fanny, Cagdas, Deniz, Tezcan, Ilhan, Kuskonmaz, Barıs, Cetinkaya, Duygu, Suarez, Felipe, Mahdaviani, Seyed Alireza, Plassart, Samira, Mathieu, Anne-Laure, Fabien, Nicole, Malcus, Christophe, Morfin-Sherpa, Florence, Billaud, Geneviève, Tusseau, Maud, Benezech, Sarah, Walzer, Thierry, De Villartay, Jean-Pierre, Bertrand, Yves, and Belot, Alexandre

Published
2024
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6. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Author

Park, Ann Y., Leney-Greene, Michael, Lynberg, Matthew, Gabrielski, Justin Q., Xu, Xijin, Schwarz, Benjamin, Zheng, Lixin, Balasubramaniyam, Arasu, Ham, Hyoungjun, Chao, Brittany, Zhang, Yu, Matthews, Helen F., Cui, Jing, Yao, Yikun, Kubo, Satoshi, Chanchu, Jean Michel, Morawski, Aaron R., Cook, Sarah A., Jiang, Ping, Ravell, Juan C., Cheng, Yan H., George, Alex, Faruqi, Aiman, Pagalilauan, Alison M., Bergerson, Jenna R. E., Ganesan, Sundar, Chauvin, Samuel D., Aluri, Jahnavi, Edwards-Hicks, Joy, Bohrnsen, Eric, Tippett, Caroline, Omar, Habib, Xu, Leilei, Butcher, Geoffrey W., Pascall, John, Karakoc-Aydiner, Elif, Kiykim, Ayca, Maecker, Holden, Tezcan, İlhan, Esenboga, Saliha, Heredia, Raul Jimenez, Akata, Deniz, Tekin, Saban, Kara, Altan, Kuloglu, Zarife, Unal, Emel, Kendirli, Tanıl, Dogu, Figen, Karabiber, Esra, Atkinson, T. Prescott, Cochet, Claude, Filhol, Odile, Bosio, Catherine M., Davis, Mark M., Lifton, Richard P., Pearce, Erika L., Daumke, Oliver, Aytekin, Caner, Şahin, Gülseren Evirgen, Aksu, Aysel Ünlüsoy, Uzel, Gulbu, Koneti Rao, V., Sari, Sinan, Dalgıç, Buket, Boztug, Kaan, Cagdas, Deniz, Haskologlu, Sule, Ikinciogullari, Aydan, Schwefel, David, Vilarinho, Silvia, Baris, Safa, Ozen, Ahmet, Su, Helen C., and Lenardo, Michael J.

Published
2024
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12. A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.

Author

Caka, Canan, Ergenoğlu, Damla Nur, Sinanoğlu, Nidanur, Maslak, Ibrahim Cemal, Bildik, Hacer Neslihan, Çiçek, Begüm, Esenboga, Saliha, Tezcan, Ilhan, and Cagdas, Deniz

Subjects
RESPIRATORY infections, MYELOID leukemia, GROWTH disorders, PRIMARY immunodeficiency diseases, SKIN infections
Abstract

Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital neutropenia. To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002–2022. We recorded clinical/laboratory features and genetic characteristics. The male/female ratio was 63/46. Fifty-eight patients had parental consanguinity(57.4%). 26.6% (n = 29) patients had at least one individual in their family with neutropenia. Common symtpoms at presentation were upper respiratory tract infections(URTI)(31.1%), oral aphthae(23.6%), skin infections(23.6%), pneumonia(20.8%), and recurrent abscesses(12.3%). Common infections during follow-up were URTI(56.8%), pneumonia(33%), skin infections(25.6%), gastroenteritis(18.3%), and recurrent abscesses(14,6%). Common long-term complications were dental problems(n = 51), osteoporosis(n = 22), growth retardation(n = 14), malignancy(n = 16)[myelodysplastic syndrome(n = 10), large granulocytic leukemia(n = 1), acute lymphoblastic leukemia(n = 1), Hodgkin lymphoma(n = 1), EBV-related lymphoma(n = 1), leiomyosarcoma(n = 1), and thyroid neoplasm(n = 1)]. We performed a genetic study in 86 patients, and 69(71%) got a genetic diagnosis. Common gene defects were HAX-1(n = 26), ELA-2 (ELANE)(n = 10), AP3B1(n = 4), and ADA-2(n = 4) gene defects. The IEI ratio(70.6%) was high. GCSF treatment(93.4%), immunoglobulin replacement therapy(18.7%), and HSCT(15.9%) were the treatment options. The mortality rate was 12.9%(n = 14). The most common long term complications were dental problems that is three times more common in patients with known genetic mutations. We prepared an algorithm for chronic neutropenia depending on the present cohort. An important rate of inborn errors of immunity, especially combined immunodeficiency(11.9%) was presented in addition to congenital phagocytic cell defects. Early diagnosis will allow us tailor the disease-specific treatment options sooner, preventing irreversible consequences. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Newborn screening for SCID: the very first prospective pilot study from Türkiye.

Author

Haskologlu, Sule, Kocak, Senem, Tufan, Lale Satiroglu, Aksoy, Fethiye Eken, Bastug, Dilan, Oner, Deniz Aslar, Islamoglu, Candan, Baskin, Kubra, Esenboga, Saliha, Acican, Deniz, Ceylaner, Serdar, Guner, Sukru Nail, Keles, Sevgi, Cagdas, Deniz, Reisli, Ismail, Tezel, Basak, Dogu, Figen, Tezcan, Ilhan, and Ikinciogullari, Aydan

Subjects
SEVERE combined immunodeficiency, NEWBORN screening, POLYMERASE chain reaction, GENE therapy, EARLY death
Abstract

Purpose: The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe combined immunodeficiency (SCID). Here, we report the results of first newborn screening pilot program for SCID conducted in Türkiye. Methods: The study was carried out together with Ankara University School of Medicine and The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department. TREC measurements were performed in randomly selected Guthrie card samples obtained from 20253 babies born between October 2018 and October 2020. The TREC analyses were performed together with beta Actin (b-Actin) via RT-PCR (Real Time Polymerase Chain Reaction). Results: TRECs found to be normal (≥15 copies/µl) in 98,6% of the newborns (n: 19975) but low (<15 copies/µl) in 1.4% (n:278) at the initial analyses. TRECs were retested in 278 suspected infants and found to be normal in 160 (0.8%) while low in 118 (0.58%). New DBS were obtained from the babies with low TRECs (new sample test). TRECs were normal in 108 (0.53%) of the new sample tests and low in 10 (0.049%). Two among 10 babies who had abnormal (undetectable) TRECs were diagnosed as SCID; ADA (P1) and RAG1 (P2) defects were confirmed respectively. They both received curative treatments [gene therapy (P1) and HSCT (P2)]. The remaining 6 of 8 newborns with abnormal TRECs were found normal after clinical and laboratory immune work-up, while medical records of other two revealed early postnatal death due to extreme prematurity. Conclusion: In the light of this study the incidence of SCID was detected at least 1/10000 live births in Türkiye. This study shows the feasibility and usefulness of initiating SCID screening in Türkiye [ABSTRACT FROM AUTHOR]

Published
2024
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17. Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Author

Roos, Dirk, van Leeuwen, Karin, Hsu, Amy P., Priel, Debra Long, Begtrup, Amber, Brandon, Rhonda, Rawat, Amit, Vignesh, Pandiarajan, Madkaikar, Manesha, Stasia, Marie José, Bakri, Faris Ghalib, de Boer, Martin, Roesler, Joachim, Köker, Nezihe, Köker, M. Yavuz, Jakobsen, Marianne, Bustamante, Jacinta, Garcia-Morato, Maria Bravo, Shephard, Juan Luis Valdivieso, Cagdas, Deniz, Tezcan, Ilhan, Sherkat, Roya, Mortaz, Esmaeil, Fayezi, Abbas, Shahrooei, Mohammad, Wolach, Baruch, Blancas-Galicia, Lizbeth, Kanegane, Hirokazu, Kawai, Toshinao, Condino-Neto, Antonio, Vihinen, Mauno, Zerbe, Christa S., Holland, Steven M., Malech, Harry L., Gallin, John I., and Kuhns, Douglas B.

Published
2021
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20. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

Author

Roos, Dirk, van Leeuwen, Karin, Hsu, Amy P., Priel, Debra Long, Begtrup, Amber, Brandon, Rhonda, Stasia, Marie José, Bakri, Faris Ghalib, Köker, Nezihe, Köker, M. Yavuz, Madkaika, Manisha, de Boer, Martin, Garcia-Morato, Maria Bravo, Shephard, Juan Luis Valdivieso, Roesler, Joachim, Kanegane, Hirokazu, Kawai, Toshinao, Di Matteo, Gigliola, Shahrooei, Mohammad, Bustamante, Jacinta, Rawat, Amit, Vignesh, Pandiarajan, Mortaz, Esmaeil, Fayezi, Abbas, Cagdas, Deniz, Tezcan, Ilhan, Kitcharoensakkul, Maleewan, Dinauer, Mary C., Meyts, Isabelle, Wolach, Baruch, Condino-Neto, Antonio, Zerbe, Christa S., Holland, Steven M., Malech, Harry L., Gallin, John I., and Kuhns, Douglas B.

Published
2021
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21. Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Author

Ogishi, Masato, Yang, Rui, Aytekin, Caner, Langlais, David, Bourgey, Mathieu, Khan, Taushif, Ali, Fatima Al, Rahman, Mahbuba, Delmonte, Ottavia M., Chrabieh, Maya, Zhang, Peng, Gruber, Conor, Pelham, Simon J., Spaan, András N., Rosain, Jérémie, Lei, Wei-Te, Drutman, Scott, Hellmann, Matthew D., Callahan, Margaret K., Adamow, Matthew, Wong, Phillip, Wolchok, Jedd D., Rao, Geetha, Ma, Cindy S., Nakajima, Yuka, Yaguchi, Tomonori, Chamoto, Kenji, Williams, Samuel C., Emile, Jean-Francois, Rozenberg, Flore, Glickman, Michael S., Rapaport, Franck, Kerner, Gaspard, Allington, Garrett, Tezcan, Ilhan, Cagdas, Deniz, Hosnut, Ferda O., Dogu, Figen, Ikinciogullari, Aydan, Rao, V. Koneti, Kainulainen, Leena, Béziat, Vivien, Bustamante, Jacinta, Vilarinho, Silvia, Lifton, Richard P., Boisson, Bertrand, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Notarangelo, Luigi D., Tangye, Stuart G., Honjo, Tasuku, Gros, Philippe, Boisson-Dupuis, Stéphanie, and Casanova, Jean-Laurent

Published
2021
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22. Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency

Author

Cagdas, Deniz, Mayr, Daniel, Baris, Safa, Worley, Lisa, Langley, David B., Metin, Ayse, Aytekin, Elif Soyak, Atan, Raziye, Kasap, Nurhan, Bal, Sevgi Köstel, Dmytrus, Jasmin, Heredia, Raul Jimenez, Karasu, Gulsun, Torun, Selda Hancerli, Toyran, Muge, Karakoc-Aydiner, Elif, Christ, Daniel, Kuskonmaz, Baris, Uçkan-Çetinkaya, Duygu, Uner, Aysegul, Oberndorfer, Felicitas, Schiefer, Ana-Iris, Uzel, Gulbu, Deenick, Elissa K., Keller, Baerbel, Warnatz, Klaus, Neven, Bénédicte, Durandy, Anne, Sanal, Ozden, Ma, Cindy S., Özen, Ahmet, Stepensky, Polina, Tezcan, Ilhan, Boztug, Kaan, and Tangye, Stuart G.

Published
2021
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25. A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects.

Author

Bildik, Hacer Neslihan, Esenboga, Saliha, Halaclı, Sevil Oskay, Karaatmaca, Betül, Aytekin, Elif Soyak, Nabiyeva, Nadira, Akarsu, Ayşegul, Ocak, Melike, Erman, Baran, Tan, Cagman, Arikoglu, Tugba, Yaz, Ismail, Cicek, Begum, Tezcan, Ilhan, and Cagdas, Deniz

Subjects
PHOSPHATIDYLINOSITOL 3-kinases, ADRENOGENITAL syndrome, LANGERHANS-cell histiocytosis, MYELOID cells, RESPIRATORY infections
Abstract

Background: Phosphoinositide 3 kinases (PI3K) are lipid kinases expressed in lymphocytes/myeloid cells. PI3K/AKT/mTOR signaling defects present with recurrent infections, autoimmunity, lymphoproliferation, and agammaglobulinemia. Objective: To characterize the PI3K/AKT/mTOR pathway defects and perform pathway analyses to assess novel variant pathogenicity. Methods: We included 12 patients (heterozygous PIK3CD (n = 9) and PIK3R1 (n = 1) (activated PI3K delta syndrome (APDS) with gain‐of‐function mutations) and homozygous PIK3R1 variant (n = 2)), performed clinical/laboratory/genetic evaluation, and flow cytometric PI3K/AKT/mTOR pathway analyses. Results: Median age at onset of complaints was 17.5 months (3 months to 12 years) and at diagnosis was 15.7 years (2.5–37) in APDS. Median diagnostic delay was 12.9 years (1.6–27). Recurrent respiratory tract infections (90%), lymphoproliferation (70%), autoimmune/inflammatory findings (60%), and allergy (40%) were common in APDS. Recurrent viral infections were present in 4/10 and malignancy (non‐Hodgkin lymphoma and testicular yolk sac tumor) was present in 2/10 in APDS. Low CD4+ T cells(5/8) with increased CD4+ effector memory (8/8) and CD4+ TEMRA cells (6/8) were present in the given number of APDS patients. We diagnosed tubulointerstitial nephritis, Langerhans cell histiocytosis, and late‐onset congenital adrenal hyperplasia in APDS. Allergic findings, lymphoproliferation/malignancy, and high IgM were present in the APDS but not in PIK3R1 deficiency. Low IgM/IgG/CD19+ B cell counts were characteristic in patients with PIK3R1 homozygous loss‐of function mutations. Conclusion: Differential diagnosis with combined immunodeficiency and diseases of immune dysregulation make molecular genetic analysis crucial for diagnosing mTOR pathway defects. It is easy to differentiate APDS and homozygous PIK3R1 defects with specific laboratory features. Additionally, mTOR pathway functional analysis is a definitive diagnostic and pathogenicity assessment tool for novel APDS mutations. [ABSTRACT FROM AUTHOR]

Published
2024
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27. COVID-19 Salgını Sırasında Doğuştan Bağışıklık Yetersizliği Olan Ergenlerde Psikososyal İşlevsellik

Author

GÜVEN, Ayşe Gül, primary, ESENBOĞA, Saliha, additional, PEHLİVANTÜRK KIZILKAN, Melis, additional, ASLAN, Cihan, additional, AKARSU, Ayşegül, additional, KARABULUT, Erdem, additional, AKDEMİR, Devrim, additional, ÖKSÜZ KANBUR, Nuray, additional, AYVAZ, Deniz, additional, TEZCAN, İlhan, additional, and DERMAN, Orhan, additional

Published
2024
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30. Evaluation of peripheral lymphocyte subsets in acne vulgaris patients before and after systemic isotretinoin treatment

Author

Gunaydin, Sibel and Tezcan, Ilhan

Subjects
Isotretinoin -- Testing, Lymphocytes -- Health aspects, Acne -- Care and treatment, Health
Abstract

Byline: Sibel. Gunaydin, Ilhan. Tezcan OBJECTIVES: Isotretinoin (ISO) is a retinoic acid-derived molecule which is very efficient in the treatment of acne vulgaris (AV). Little is known regarding alterating affects [...]

Published
2022

31. Psychosocial Functionality in Adolescents with Inborn Errors of Immunity During the COVID-19 Pandemic.

Author

GÜVEN, Ayşe Gül, ESENBOĞA, Saliha, KIZILKAN, Melis PEHLİVANTÜRK, ASLAN, Cihan, AKARSU, Ayşegül, KARABULUT, Erdem, AKDEMİR, Devrim, KANBUR, Nuray, ÇAĞDAŞ, Deniz, TEZCAN, İlhan, and DERMAN, Orhan

Subjects
COVID-19 pandemic, PSYCHOSOCIAL functioning, PRIMARY immunodeficiency diseases
Abstract

Copyright of Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi is the property of Turkish Journal of Pediatric Disease and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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34. A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects

Author

Cagdas, Deniz, Halaçlı, Sevil Oskay, Tan, Çağman, Lo, Bernice, Çetinkaya, Pınar Gür, Esenboğa, Saliha, Karaatmaca, Betül, Matthews, Helen, Balcı-Hayta, Burcu, Arıkoğlu, Tuba, Ezgü, Fatih, Aladağ, Elifcan, Saltık-Temizel, İnci N., Demir, Hülya, Kuşkonmaz, Barış, Okur, Visal, Gümrük, Fatma, Göker, Hakan, Çetinkaya, Duygu, Boztuğ, Kaan, Lenardo, Michael, Sanal, Özden, and Tezcan, İlhan

Published
2019
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35. Clinical Features and HSCT Outcome for SCID in Turkey

Author

Ikinciogullari, Aydan, Cagdas, Deniz, Dogu, Figen, Tugrul, Tuba, Karasu, Gulsum, Haskologlu, Sule, Aksoylar, Serap, Uygun, Vedat, Kupesiz, Alphan, Yildiran, Alisan, Gursel, Orhan, Ates, Can, Elhan, Atilla, Kansoy, Savas, Yesilipek, Akif, Tezcan, Ilhan, and on behalf of Turkish Pediatric Bone Marrow Transplantation Sub Group (TPBMT-SG)

Published
2019
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39. Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Author

Karaatmaca, Betul, Cagdas, Deniz, Esenboga, Saliha, Erman, Baran, Tan, Cagman, Turul Ozgur, Tuba, Boztug, Kaan, van der Burg, Mirjam, Sanal, Ozden, and Tezcan, Ilhan

Subjects
SEVERE combined immunodeficiency, HEMATOPOIETIC stem cell transplantation, THRUSH (Mouth disease)
Abstract

Recombination activating genes (RAG)1 and RAG2 deficiency leads to combined T/B-cell deficiency with varying clinical presentations. This study aimed to define the clinical/laboratory spectrum of RAG1 and RAG2 deficiency. We retrospectively reviewed the clinical/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn syndrome (OS), and delayed-onset combined immunodeficiency (CID) and reported nine novel mutations. The male/female ratio was 23/12. Median age of clinical manifestations was 1 months (mo) (0.5–2), 2 mo (1.25–5), and 14 mo (3.63–27), age at diagnosis was 4 mo (3–6), 4.5 mo (2.5–9.75), and 27 mo (14.5–70) in SCID (n = 25; 71.4%), OS (n = 5; 14.3%), and CID (n = 5; 14.3%) patients, respectively. Common clinical manifestations were recurrent sinopulmonary infections 82.9%, oral moniliasis 62.9%, diarrhea 51.4%, and eczema/dermatitis 42.9%. Autoimmune features were present in 31.4% of the patients; 80% were in CID patients. Lymphopenia was present in 92% of SCID, 80% of OS, and 80% of CID patients. All SCID and CID patients had low T (CD3, CD4, and CD8), low B, and increased NK cell numbers. Twenty-eight patients underwent hematopoietic stem cell transplantation (HSCT), whereas seven patients died before HSCT. Median age at HSCT was 7 mo (4–13.5). Survival differed in groups; maximum in SCID patients who had an HLA-matched family donor, minimum in OS. Totally 19 (54.3%) patients survived. Early molecular genetic studies will give both individualized therapy options, and a survival advantage because of timely diagnosis and treatment. Further improvement in therapeutic outcomes will be possible if clinicians gain time for HSCT. The recombination activating genes (RAG) are key players for T- and B-cell development and functions. Multifarious clinical presentations have been defined as patients with RAG deficiency. Early diagnosis, effective treatment, and early hematopoietic stem cell transplantation will increase the patients' chances of survival, especially for late-onset forms. Graphical Abstract [ABSTRACT FROM AUTHOR]

Published
2024
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40. A large single‐center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey.

Author

Ünsal, Hilal, Caka, Canan, Bildik, Hacer Neslihan, Esenboğa, Saliha, Kupesiz, Alphan, Kuşkonmaz, Barış, Cetinkaya, Duygu Uçkan, van der Burg, Mirjam, Tezcan, İlhan, and Çağdaş, Deniz

Subjects
SEVERE combined immunodeficiency, HEMATOPOIETIC stem cell transplantation, MAJOR histocompatibility complex, INFECTIOUS arthritis, GENETIC counseling, BLOOD coagulation factor XIII
Abstract

Major histocompatibility complex class II (MHC‐II) deficiency or bare lymphocyte syndrome (BLS) is a rare, early‐onset, autosomal recessive, and life‐threatening inborn error of immunity. We aimed to assess the demographic, clinical, laboratory, follow‐up, and treatment characteristics of patients with MHC‐II deficiency, together with their survival. We retrospectively investigated 21 patients with MHC‐II deficiency. Female/male ratio was 1.63. The median age at diagnosis was 16.3 months (5 months–9.7 years). Nineteen patients (90.5%) had parental consanguinity. Pulmonary diseases (pneumonia, chronic lung disease) (81%), diarrhoea (47.6%), and candidiasis (28.6%) were common. Four (19%) had autoimmunity, two developed septic arthritis, and three (14%) developed bronchiectasis in the follow‐up. Three patients (14%) had CMV viraemia, one with bilateral CMV retinitis. Eight (38.1%) had lymphocytopenia, and four (19%) had neutropenia. Serum IgM, IgA, and IgG levels were low in 18 (85.7%), 15 (71.4%), and 11 (52.4%) patients, respectively. CD4+ lymphocytopenia, a reversed CD4+/CD8+ ratio, and absent/low HLA‐DR expressions were detected in 93.3%, 86.7%, and 100% of the patients, respectively. Haematopoietic stem cell transplantation (HSCT) was performed on nine patients, and four died of septicaemia and ARDS after HSCT. The present median age of patients survived is 14 years (1–31 years). Genetic analysis was performed in 10 patients. RFX5 homozygous gene defect was found in three patients (P1, P4 and P8), and RFXANK (P2 and P14) and RFXAP (P18 and P19) heterozygous gene defects were found in each two patients, respectively. This large cohort showed that BLS patients have severe combined immunodeficiency (SCID)‐like clinical findings. Flow cytometric MHC‐II expression study is crucial for the diagnosis, differential diagnosis with SCID, early haematopoietic stem cell transplantation (HSCT), and post‐HSCT follow‐up. Genetic studies are required first for matched family donor evaluation before HSCT and then for genetic counselling. [ABSTRACT FROM AUTHOR]

Published
2024
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45. Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency

Author

Cicalese, Maria Pia, Ferrua, Francesca, Castagnaro, Laura, Pajno, Roberta, Barzaghi, Federica, Giannelli, Stefania, Dionisio, Francesca, Brigida, Immacolata, Bonopane, Marco, Casiraghi, Miriam, Tabucchi, Antonella, Carlucci, Filippo, Grunebaum, Eyal, Adeli, Mehdi, Bredius, Robbert G., Puck, Jennifer M., Stepensky, Polina, Tezcan, Ilhan, Rolfe, Katie, De Boever, Erika, Reinhardt, Rickey R., Appleby, Jonathan, Ciceri, Fabio, Roncarolo, Maria Grazia, and Aiuti, Alessandro

Published
2016
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49. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Author

Engelhardt, Karin R., Gertz, Michael E., Keles, Sevgi, Schäffer, Alejandro A., Sigmund, Elena C., Glocker, Cristina, Saghafi, Shiva, Pourpak, Zahra, Ceja, Ruben, Sassi, Atfa, Graham, Laura E., Massaad, Michel J., Mellouli, Fethi, Ben-Mustapha, Imen, Khemiri, Monia, Kilic, Sara Sebnem, Etzioni, Amos, Freeman, Alexandra F., Thiel, Jens, Schulze, Ilka, Al-Herz, Waleed, Metin, Ayse, Sanal, Özden, Tezcan, Ilhan, Yeganeh, Mehdi, Niehues, Tim, Dueckers, Gregor, Weinspach, Sebastian, Patiroglu, Turkan, Unal, Ekrem, Dasouki, Majed, Yilmaz, Mustafa, Genel, Ferah, Aytekin, Caner, Kutukculer, Necil, Somer, Ayper, Kilic, Mehmet, Reisli, Ismail, Camcioglu, Yildiz, Gennery, Andrew R., Cant, Andrew J., Jones, Alison, Gaspar, Bobby H., Arkwright, Peter D., Pietrogrande, Maria C., Baz, Zeina, Al-Tamemi, Salem, Lougaris, Vassilios, Lefranc, Gerard, Megarbane, Andre, Boutros, Jeannette, Galal, Nermeen, Bejaoui, Mohamed, Barbouche, Mohamed-Ridha, Geha, Raif S., Chatila, Talal A., and Grimbacher, Bodo

Published
2015
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