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32 results

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Quoted phrase not found in phrase index: "Gastrointestinal defects and immunodeficiency syndrome 2"
Page 1
Developmental trajectories in 22q11.2 deletion.
Swillen A, McDonald-McGinn D. Swillen A, et al. Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):172-81. doi: 10.1002/ajmg.c.31435. Epub 2015 May 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 25989227 Free PMC article. Review.
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,000-4,000 live births and involving haploinsufficiency of 50 genes resulting in a multisystem disorder. ...Most common medical prob …
Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affectin …
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency.
Giardino S, Volpi S, Lucioni F, Caorsi R, Schneiderman J, Lang A, Khojah A, Kuijpers T, Papadatou I, Paisiou A, Alonso L, Schulz A, Marcus N, Gattorno M, Faraci M. Giardino S, et al. J Clin Immunol. 2022 Oct;42(7):1535-1544. doi: 10.1007/s10875-022-01305-6. Epub 2022 Jun 29. J Clin Immunol. 2022. PMID: 35767111
Mutations in the ARPC1B isoform component of human actin-related protein 2/3 complex have been recently associated with an inborn error of immunity characterized by combined immunodeficiency, allergies, autoinflammation, and platelet abnormalities. ...All patients p …
Mutations in the ARPC1B isoform component of human actin-related protein 2/3 complex have been recently associated with an inborn error of i …
Whipple's disease.
Bai JC, Mazure RM, Vazquez H, Niveloni SI, Smecuol E, Pedreira S, Mauriño E. Bai JC, et al. Clin Gastroenterol Hepatol. 2004 Oct;2(10):849-60. doi: 10.1016/s1542-3565(04)00387-8. Clin Gastroenterol Hepatol. 2004. PMID: 15476147 Review.
Although gastrointestinal compromise is very common, atypical clinical forms are being increasingly recognized. ...Pathological specimens show macrophage infiltration with mostly intracellular invasion of live bacteria. Immunologic factors, such as a subtle defec …
Although gastrointestinal compromise is very common, atypical clinical forms are being increasingly recognized. ...Pathological speci …
The many faces of common variable immunodeficiency.
Cunningham-Rundles C. Cunningham-Rundles C. Hematology Am Soc Hematol Educ Program. 2012;2012:301-5. doi: 10.1182/asheducation-2012.1.301. Hematology Am Soc Hematol Educ Program. 2012. PMID: 23233596 Free PMC article. Review.
Common variable immunodeficiency (CVID) is a rare immune deficiency characterized by low levels of serum IgG, IgA, and/or IgM, with a loss of Ab production. ...CVID consists of 2 phenotypes, 1 in which infections are the characteristic and another in which impressiv …
Common variable immunodeficiency (CVID) is a rare immune deficiency characterized by low levels of serum IgG, IgA, and/or IgM, …
Gastrointestinal and hepatic manifestations of primary immune deficiency diseases.
Al-Muhsen SZ. Al-Muhsen SZ. Saudi J Gastroenterol. 2010 Apr-Jun;16(2):66-74. doi: 10.4103/1319-3767.61230. Saudi J Gastroenterol. 2010. PMID: 20339173 Free PMC article. Review.
Primary immune deficiency diseases (PIDs) are a heterogeneous group of inherited diseases characterized by variable genetic immune defects, conferring susceptibility to recurrent infections. ...To improve the awareness of gastroenterologists and related health care …
Primary immune deficiency diseases (PIDs) are a heterogeneous group of inherited diseases characterized by variable genetic immune …
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M. Yoldas Celik M, et al. J Pediatr Endocrinol Metab. 2023 Apr 13;36(6):530-538. doi: 10.1515/jpem-2022-0641. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37042760
The clinical findings of the patients were dysmorphia (85.7 %), developmental delay (85.7 %), intellectual disability (85.7 %), ocular abnormalities (64.2 %), skeletal malformations (64.2 %), failure to thrive (57.1 %), microcephaly (57.1 %), hepatomegaly (35.7 %), hearing …
The clinical findings of the patients were dysmorphia (85.7 %), developmental delay (85.7 %), intellectual disability (85.7 %), ocular ab …
Hereditary angioedema in childhood: an approach to management.
Ebo DG, Verweij MM, De Knop KJ, Hagendorens MM, Bridts CH, De Clerck LS, Stevens WJ. Ebo DG, et al. Paediatr Drugs. 2010 Aug 1;12(4):257-68. doi: 10.2165/11532590-000000000-00000. Paediatr Drugs. 2010. PMID: 20593909 Review.
Hereditary angioedema (HAE) is an inherited disorder characterized by recurrent, circumscribed, non-pitting, non-pruritic, and rather painful subepithelial swelling of sudden onset, which fades during the course of 48-72 hours, but can persist for up to 1 week. Lesions can …
Hereditary angioedema (HAE) is an inherited disorder characterized by recurrent, circumscribed, non-pitting, non-pruritic, and rather painfu …
Primary Immunodeficiency Disorders Among North Indian Children.
Gupta D, Thakral D, Kumar P, Kabra SK, Lodha R, Kumari R, Mohanty SK, Chakraborty S, Bagri N, Mitra DK. Gupta D, et al. Indian J Pediatr. 2019 Oct;86(10):885-891. doi: 10.1007/s12098-019-02971-y. Epub 2019 Jun 8. Indian J Pediatr. 2019. PMID: 31177511
The diagnosis of index study subjects included combined humoral and cellular immunodeficiency (29%), phagocytic defects (29%), followed by predominantly antibody deficiency (18%), innate immunity and dysregulation (17%) and other well-defined syndromes …
The diagnosis of index study subjects included combined humoral and cellular immunodeficiency (29%), phagocytic defects (29%), …
Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course.
Gamliel A, Lee YN, Lev A, AbuZaitun O, Rechavi E, Levy S, Simon AJ, Somech R. Gamliel A, et al. J Investig Allergol Clin Immunol. 2023 Jul 27;33(4):263-270. doi: 10.18176/jiaci.0792. Epub 2022 Feb 15. J Investig Allergol Clin Immunol. 2023. PMID: 35166674 Free article.
BACKGROUND AND OBJECTIVE: Cartilage-hair hypoplasia (CHH) syndrome is a rare autosomal recessive syndrome associated with skeletal dysplasia, varying degrees of combined immunodeficiency (CID), short stature, hair hypoplasia, macrocytic anemia, increased risk …
BACKGROUND AND OBJECTIVE: Cartilage-hair hypoplasia (CHH) syndrome is a rare autosomal recessive syndrome associated with skel …
Altered Plasma Fatty Acids Associate with Gut Microbial Composition in Common Variable Immunodeficiency.
Skarpengland T, Macpherson ME, Hov JR, Kong XY, Bohov P, Halvorsen B, Fevang B, Berge RK, Aukrust P, Jørgensen SF. Skarpengland T, et al. J Clin Immunol. 2022 Jan;42(1):146-157. doi: 10.1007/s10875-021-01146-9. Epub 2021 Oct 20. J Clin Immunol. 2022. PMID: 34669143 Free PMC article.
PURPOSE: Fatty acid (FA) abnormalities are found in various inflammatory disorders and have been related to disturbed gut microbiota. Patients with common variable immunodeficiency (CVID) have inflammatory complications associated with altered gut microbial composit …
PURPOSE: Fatty acid (FA) abnormalities are found in various inflammatory disorders and have been related to disturbed gut microbiota. …
32 results