Evaluation of Immunological Abnormalities in Patients with Rare Syndromes

Overview

Journal Cent Eur J Immunol

Publisher Termedia

Specialty Allergy & Immunology

Date 2023 Feb 23

PMID 36817395

Authors

Yahya Gul

Hasan Kapakli

Selma Erol Aytekin

Sukru Nail Guner

Sevgi Keles

Ayse Gul Zamani

Mahmut Selman Yildirim

Ismail Reisli

Affiliations

Soon will be listed here.

Abstract

Introduction: Recurrent infections are important problems in syndromic patients. This study aimed to evaluate immunological abnormalities in patients who presented with recurrent infections and were diagnosed with rare syndromes.

Material And Methods: This retrospective analysis included 14 patients with complaints of recurrent infections, all of whom were diagnosed with a rare syndrome.

Results: The study group consisted of patients with Aicardi syndrome, Brugada syndrome, Phelan- McDermid syndrome, trichothiodystrophy, LEOPARD syndrome, Prader-Willi syndrome, Seckel syndrome, trisomy 18 (Edwards' syndrome), Wiedemann-Steiner syndrome, West syndrome, Williams syndrome, 47,XYY syndrome, 16p13 deletion syndrome, and 13q1.3 deletion syndrome. Seven patients (50%) were girls and seven (50%) were boys (mean age, 56.7 ±32.9 months; median [range] age: 45.5 [27-153] months). There were high rates of consanguinity (50%), cesarean section delivery (71%), and hospitalization in the intensive care unit (78.5%). No patients had a family history of immunodeficiency. On admission, all patients exhibited humoral and/or cellular immune system abnormalities. During the follow-up period, all T-cell abnormalities were improved after immunoglobulin replacement therapy (IGRT), while B-cell abnormalities persisted. These findings suggested that the patients predominantly had antibody deficiencies associated with mild T-cell abnormalities because of recurrent infections. The rates of infections and hospitalizations were significantly reduced after IGRT (p < 0.001); the rate of intensive care unit admission also significantly decreased (from 78.5% to 21.4%). Two of the three oxygen-dependent patients exhibited improvement therein. IGRT was discontinued in two patients with significant clinical improvement during follow-up.

Conclusions: An immunological evaluation should be considered in pediatric patients with rare syndromes and recurrent infections. IGRT may help to improve the prognoses of these patients.

Citing Articles

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.

Chen C, Zhang C, Wu D, Wang B, Xiao R, Huang X World J Pediatr. 2024; 20(12):1270-1282.

PMID: 39500858 PMC: 11634924. DOI: 10.1007/s12519-024-00846-7.

References

Bonilla F, Geha R . 2. Update on primary immunodeficiency diseases. J Allergy Clin Immunol. 2006; 117(2 Suppl Mini-Primer):S435-41. DOI: 10.1016/j.jaci.2005.09.051. View

Aksu G, Genel F, Koturoglu G, Kurugol Z, Kutukculer N . Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr. 2006; 48(1):19-24. View

Ming J, Stiehm E . Genetic syndromic immunodeficiencies with antibody defects. Immunol Allergy Clin North Am. 2008; 28(4):715-36, vii. DOI: 10.1016/j.iac.2008.06.007. View

Tangye S, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A . Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020; 40(1):24-64. PMC: 7082301. DOI: 10.1007/s10875-019-00737-x. View

Chrzanowska K, Gregorek H, Dembowska-Baginska B, Kalina M, Digweed M . Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. 2012; 7:13. PMC: 3314554. DOI: 10.1186/1750-1172-7-13. View

Walani S . Global burden of preterm birth. Int J Gynaecol Obstet. 2020; 150(1):31-33. DOI: 10.1002/ijgo.13195. View

Ming J, Stiehm E, Graham Jr J . Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities. Crit Rev Clin Lab Sci. 2004; 40(6):587-642. DOI: 10.1080/714037692. View

Schatorje E, van der Flier M, Seppanen M, Browning M, Morsheimer M, Henriet S . Primary immunodeficiency associated with chromosomal aberration - an ESID survey. Orphanet J Rare Dis. 2016; 11(1):110. PMC: 4971718. DOI: 10.1186/s13023-016-0492-1. View

Brugada P, Brugada J . Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992; 20(6):1391-6. DOI: 10.1016/0735-1097(92)90253-j. View

10.

Bogaert D, Dullaers M, Kuehn H, Leroy B, Niemela J, De Wilde H . Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. Sci Rep. 2017; 7(1):3702. PMC: 5473876. DOI: 10.1038/s41598-017-02434-4. View

11.

van der Burgt I . Noonan syndrome. Orphanet J Rare Dis. 2007; 2:4. PMC: 1781428. DOI: 10.1186/1750-1172-2-4. View

12.

Geha R, Notarangelo L, Casanova J, Chapel H, Conley M, Fischer A . Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007; 120(4):776-94. PMC: 2601718. DOI: 10.1016/j.jaci.2007.08.053. View

13.

Bittles A . Consanguinity and its relevance to clinical genetics. Clin Genet. 2001; 60(2):89-98. DOI: 10.1034/j.1399-0004.2001.600201.x. View

14.

Perkins T, Rosenberg J, Le Coz C, Alaimo J, Trofa M, Mullegama S . Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. 2017; 5(5):1344-1350.e3. PMC: 5591748. DOI: 10.1016/j.jaip.2017.01.028. View

15.

Randall G, Kraemer K, Pugh J, Tamura D, DiGiovanna J, Khan S . Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival. Br J Haematol. 2018; 185(4):752-754. PMC: 8362287. DOI: 10.1111/bjh.15598. View

16.

Martin J, Hamilton B, Ventura S, Osterman M, Kirmeyer S, Mathews T . Births: final data for 2009. Natl Vital Stat Rep. 2012; 60(1):1-70. View

17.

Berglund A, Stochholm K, Gravholt C . Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use. Genet Med. 2020; 22(9):1542-1551. DOI: 10.1038/s41436-020-0837-y. View

18.

Ikinciogullari A, Kendirli T, Dogu F, Egin Y, Reisli I, Cin S . Peripheral blood lymphocyte subsets in healthy Turkish children. Turk J Pediatr. 2004; 46(2):125-30. View

19.

Abolhassani H, Chou J, Bainter W, Platt C, Tavassoli M, Momen T . Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2017; 141(4):1450-1458. DOI: 10.1016/j.jaci.2017.06.049. View

20.

Boyle A, Reddy U, Landy H, Huang C, Driggers R, Laughon S . Primary cesarean delivery in the United States. Obstet Gynecol. 2013; 122(1):33-40. PMC: 3713634. DOI: 10.1097/AOG.0b013e3182952242. View