152 related articles for article (PubMed ID: 35413226)
1. Targeted next-generation sequencing revealed a novel homozygous mutation in the
Kedar P; Dongerdiye R; Chandrakala S; Bargir UA; Madkaikar M
Hematology; 2022 Dec; 27(1):441-448. PubMed ID: 35413226
[TBL] [Abstract][Full Text] [Related]
2. Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.
Tesi B; Priftakis P; Lindgren F; Chiang SC; Kartalis N; Löfstedt A; Lörinc E; Henter JI; Winiarski J; Bryceson YT; Meeths M
J Clin Immunol; 2016 Jul; 36(5):480-9. PubMed ID: 27146671
[TBL] [Abstract][Full Text] [Related]
3. A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
Cagdas D; Halaçlı SO; Tan Ç; Lo B; Çetinkaya PG; Esenboğa S; Karaatmaca B; Matthews H; Balcı-Hayta B; Arıkoğlu T; Ezgü F; Aladağ E; Saltık-Temizel İN; Demir H; Kuşkonmaz B; Okur V; Gümrük F; Göker H; Çetinkaya D; Boztuğ K; Lenardo M; Sanal Ö; Tezcan İ
J Clin Immunol; 2019 Oct; 39(7):726-738. PubMed ID: 31432443
[TBL] [Abstract][Full Text] [Related]
4. Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.
Kedar PS; Gupta V; Dongerdiye R; Chiddarwar A; Warang P; Madkaikar MR
J Clin Pathol; 2019 Jan; 72(1):81-85. PubMed ID: 30337328
[TBL] [Abstract][Full Text] [Related]
5. Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.
Besnard C; Levy E; Aladjidi N; Stolzenberg MC; Magerus-Chatinet A; Alibeu O; Nitschke P; Blanche S; Hermine O; Jeziorski E; Landman-Parker J; Leverger G; Mahlaoui N; Michel G; Pellier I; Suarez F; Thuret I; de Saint-Basile G; Picard C; Fischer A; Neven B; Rieux-Laucat F; Quartier P;
Clin Immunol; 2018 Mar; 188():52-57. PubMed ID: 29330115
[TBL] [Abstract][Full Text] [Related]
6. Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.
Mangodt TC; Vanden Driessche K; Norga KK; Moes N; De Bruyne M; Haerynck F; Bordon V; Jansen AC; Jonckheere AI
BMC Pediatr; 2023 Jul; 23(1):353. PubMed ID: 37443020
[TBL] [Abstract][Full Text] [Related]
7. Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.
Schreiner F; Plamper M; Dueker G; Schoenberger S; Gámez-Díaz L; Grimbacher B; Hilger AC; Gohlke B; Reutter H; Woelfle J
J Clin Endocrinol Metab; 2016 Mar; 101(3):898-904. PubMed ID: 26745254
[TBL] [Abstract][Full Text] [Related]
8. LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Soler-Palacín P; Garcia-Prat M; Martín-Nalda A; Franco-Jarava C; Rivière JG; Plaja A; Bezdan D; Bosio M; Martínez-Gallo M; Ossowski S; Colobran R
Front Immunol; 2018; 9():2397. PubMed ID: 30386343
[TBL] [Abstract][Full Text] [Related]
9. Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency.
Phan ANL; Pham TTT; Huynh N; Nguyen TM; Cao CTT; Nguyen DT; Le DT; Bui CB
Mol Genet Genomic Med; 2020 May; 8(5):e1216. PubMed ID: 32154999
[TBL] [Abstract][Full Text] [Related]
10. Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review.
Fetyan S; Sakrani NF; Yassin F; Abdallah MF; Elzein N; Azizi G; ElGhazali G
Iran J Allergy Asthma Immunol; 2022 Apr; 21(2):219-227. PubMed ID: 35490276
[TBL] [Abstract][Full Text] [Related]
11. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
Gámez-Díaz L; August D; Stepensky P; Revel-Vilk S; Seidel MG; Noriko M; Morio T; Worth AJJ; Blessing J; Van de Veerdonk F; Feuchtinger T; Kanariou M; Schmitt-Graeff A; Jung S; Seneviratne S; Burns S; Belohradsky BH; Rezaei N; Bakhtiar S; Speckmann C; Jordan M; Grimbacher B
J Allergy Clin Immunol; 2016 Jan; 137(1):223-230. PubMed ID: 26768763
[TBL] [Abstract][Full Text] [Related]
12. Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients.
Meshaal S; El Hawary R; Adel R; Abd Elaziz D; Erfan A; Lotfy S; Hafez M; Hassan M; Johnson M; Rojas-Restrepo J; Gamez-Diaz L; Grimbacher B; Shoman W; Abdelmeguid Y; Boutros J; Galal N; El-Guindy N; Elmarsafy A
J Clin Immunol; 2020 Aug; 40(6):820-832. PubMed ID: 32506362
[TBL] [Abstract][Full Text] [Related]
13. LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency.
Kardelen AD; Kara M; Güller D; Ozturan EK; Abalı ZY; Ceylaner S; Kıykım A; Cantez S; Torun SH; Poyrazoglu S; Bas F; Darendelıler F
Hormones (Athens); 2021 Jun; 20(2):389-394. PubMed ID: 33155142
[TBL] [Abstract][Full Text] [Related]
14. Various phenotypes of
Yao J; Gu H; Mou W; Chen Z; Ma J; Ma H; Li N; Zhang R; Wang T; Jiang J; Wu R
Int J Immunopathol Pharmacol; 2022; 36():3946320221125591. PubMed ID: 36074705
[TBL] [Abstract][Full Text] [Related]
15. Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.
Martínez-Jaramillo C; Gutierrez-Hincapie S; Arango JCO; Vásquez-Duque GM; Erazo-Garnica RM; Franco JL; Trujillo-Vargas CM
Colomb Med (Cali); 2019 Sep; 50(3):176-191. PubMed ID: 32284663
[TBL] [Abstract][Full Text] [Related]
16. Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation.
Kutluǧ Ş; Boztuǧ K; Yıldıran A
Cent Eur J Immunol; 2019; 44(3):332-335. PubMed ID: 31871423
[TBL] [Abstract][Full Text] [Related]
17. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.
Serwas NK; Kansu A; Santos-Valente E; Kuloğlu Z; Demir A; Yaman A; Gamez Diaz LY; Artan R; Sayar E; Ensari A; Grimbacher B; Boztug K
Inflamm Bowel Dis; 2015 Jan; 21(1):40-7. PubMed ID: 25479458
[TBL] [Abstract][Full Text] [Related]
18. Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review.
Habibi S; Zaki-Dizaji M; Rafiemanesh H; Lo B; Jamee M; Gámez-Díaz L; Salami F; Kamali AN; Mohammadi H; Abolhassani H; Yazdani R; Aghamohammadi A; Anaya JM; Azizi G
J Allergy Clin Immunol Pract; 2019; 7(7):2379-2386.e5. PubMed ID: 30995531
[TBL] [Abstract][Full Text] [Related]
19. LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.
Lévy E; Stolzenberg MC; Bruneau J; Breton S; Neven B; Sauvion S; Zarhrate M; Nitschké P; Fischer A; Magérus-Chatinet A; Quartier P; Rieux-Laucat F
Clin Immunol; 2016 Jul; 168():88-93. PubMed ID: 27057999
[TBL] [Abstract][Full Text] [Related]
20. Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.
Bakhtiar S; Ruemmele F; Charbit-Henrion F; Lévy E; Rieux-Laucat F; Cerf-Bensussan N; Bader P; Paetow U
Front Pediatr; 2016; 4():98. PubMed ID: 27683652
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
