U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Recurrent pharyngitis

MedGen UID:
488936
Concept ID:
C0747556
Sign or Symptom
Synonyms: Pharyngitis, recurrent; Recurrent sore throat
 
HPO: HP:0100776

Definition

An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. [from HPO]

Term Hierarchy

Conditions with this feature

X-linked lymphoproliferative disease due to SH2D1A deficiency
MedGen UID:
1770239
Concept ID:
C5399825
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) in general is characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis, dysgammaglobulinemia, and lymphoproliferative disease (malignant lymphoma). The condition primarily affects males. XLP has two recognizable subtypes, XLP1 (due to pathogenic variants in SH2D1A) and XLP2 (due to pathogenic variants in XIAP). HLH / fulminant infectious mononucleosis is the most common presentation regardless of subtype. HLH is characterized as an acute illness with prolonged and high fever, bi- or trilineage cytopenias, and hepatosplenomegaly, which is often severe or fatal. Death is generally secondary to liver failure or multisystem organ dysfunction. In those with XLP1, dys- or hypogammaglobulinemia can lead to varying degrees of humoral immune dysfunction associated with bronchiectasis and recurrent respiratory infections that, if untreated, may result in death. Lymphoproliferative disease (malignant lymphoma) and other lymphoproliferative diseases are specific to XLP1 and often develop in childhood, usually following EBV exposure. Rarer findings in those with XLP1 can include aplastic anemia, vasculitis, and lymphoid granulomatosis. Males with XLP2 are more likely to have HLH without EBV infection, recurrent episodes of HLH (which is not typically seen in those with XLP1), splenomegaly, and gastrointestinal disease, including enterocolitis and perirectal abscesses or fistulae. Rarely, individuals with XLP2 and inflammatory bowel disease have been reported to develop inflammatory liver disease, which can progress to fatal liver failure. Transient hypogammaglobulinemia has been rarely observed in those with XLP2. To date, neither lymphoproliferative disease nor common variable immunodeficiency has been reported in males with XLP2. Heterozygous females rarely have symptoms. There are, however, increasing numbers of reports of affected females with unfavorable (skewed) X-chromosome inactivation favoring the X chromosome with the pathogenic variant who develop HLH, inflammatory bowel disease, and erythema nodosum.

Professional guidelines

PubMed

Chiappini E, Simeone G, Bergamini M, Pellegrino R, Guarino A, Staiano A, Esposito S, Gattinara GC, Vecchio AL, Stefani S, Iacono ID, Scotese I, Tezza G, Dinardo G, Riccio S, Pellizzari S, Iavarone S, Lorenzetti G, Venturini E, Donà D, Pierantoni L, Doria M, Garazzino S, Midulla F, Cricelli C, Terracciano L, Capuano A, Bruzzese E, Ghiglioni D, Fusani L, Fusco E, Biasci P, Reggiani L, Matera L, Mancino E, Barbieri E, D'Avino A, Cursi L, Sullo MG, Scotti S, Marseglia GL, Di Mauro G, Principi N, Galli L, Verga MC
Ital J Pediatr 2024 Nov 6;50(1):235. doi: 10.1186/s13052-024-01789-5. PMID: 39501298Free PMC Article
Saito M, Hirose M, Ichinose H, Villanueva SYAM, Yoshida SI
J Med Microbiol 2018 Nov;67(11):1544-1550. Epub 2018 Sep 24 doi: 10.1099/jmm.0.000833. PMID: 30247119
Mandel JH
Postgrad Med 1985 Feb 15;77(3):187-93, 196-9. doi: 10.1080/00325481.1985.11698902. PMID: 3919374

Recent clinical studies

Etiology

Chiappini E, Simeone G, Bergamini M, Pellegrino R, Guarino A, Staiano A, Esposito S, Gattinara GC, Vecchio AL, Stefani S, Iacono ID, Scotese I, Tezza G, Dinardo G, Riccio S, Pellizzari S, Iavarone S, Lorenzetti G, Venturini E, Donà D, Pierantoni L, Doria M, Garazzino S, Midulla F, Cricelli C, Terracciano L, Capuano A, Bruzzese E, Ghiglioni D, Fusani L, Fusco E, Biasci P, Reggiani L, Matera L, Mancino E, Barbieri E, D'Avino A, Cursi L, Sullo MG, Scotti S, Marseglia GL, Di Mauro G, Principi N, Galli L, Verga MC
Ital J Pediatr 2024 Nov 6;50(1):235. doi: 10.1186/s13052-024-01789-5. PMID: 39501298Free PMC Article
Lyu T, Luo X, Huang CY, Sun Y
Stat Methods Med Res 2021 Oct;30(10):2239-2255. Epub 2021 Aug 26 doi: 10.1177/09622802211027593. PMID: 34445914Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2019 Dec 30;12(12):CD008669. doi: 10.1002/14651858.CD008669.pub3. PMID: 31886897Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883
Mandel JH
Postgrad Med 1985 Feb 15;77(3):187-93, 196-9. doi: 10.1080/00325481.1985.11698902. PMID: 3919374

Diagnosis

Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2019 Dec 30;12(12):CD008669. doi: 10.1002/14651858.CD008669.pub3. PMID: 31886897Free PMC Article
Manthiram K, Nesbitt E, Morgan T, Edwards KM
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2015-4572. PMID: 27565549Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2014 Sep 11;(9):CD008669. doi: 10.1002/14651858.CD008669.pub2. PMID: 25209127
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883
Mandel JH
Postgrad Med 1985 Feb 15;77(3):187-93, 196-9. doi: 10.1080/00325481.1985.11698902. PMID: 3919374

Therapy

Chiappini E, Simeone G, Bergamini M, Pellegrino R, Guarino A, Staiano A, Esposito S, Gattinara GC, Vecchio AL, Stefani S, Iacono ID, Scotese I, Tezza G, Dinardo G, Riccio S, Pellizzari S, Iavarone S, Lorenzetti G, Venturini E, Donà D, Pierantoni L, Doria M, Garazzino S, Midulla F, Cricelli C, Terracciano L, Capuano A, Bruzzese E, Ghiglioni D, Fusani L, Fusco E, Biasci P, Reggiani L, Matera L, Mancino E, Barbieri E, D'Avino A, Cursi L, Sullo MG, Scotti S, Marseglia GL, Di Mauro G, Principi N, Galli L, Verga MC
Ital J Pediatr 2024 Nov 6;50(1):235. doi: 10.1186/s13052-024-01789-5. PMID: 39501298Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2019 Dec 30;12(12):CD008669. doi: 10.1002/14651858.CD008669.pub3. PMID: 31886897Free PMC Article
Isaacson G
Pediatrics 2012 Aug;130(2):324-34. Epub 2012 Jul 2 doi: 10.1542/peds.2011-3857. PMID: 22753552
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883
Randall DA, Parker GS, Kennedy KS
Am Fam Physician 1991 Nov;44(5):1639-46. PMID: 1950961

Prognosis

Cantarini L, Rigante D, Merlini G, Vitale A, Caso F, Lucherini OM, Sfriso P, Frediani B, Punzi L, Galeazzi M, Cimaz R, Obici L
Semin Arthritis Rheum 2014 Jun;43(6):818-23. Epub 2013 Dec 12 doi: 10.1016/j.semarthrit.2013.12.002. PMID: 24393624
Koskenkorva T, Koivunen P, Koskela M, Niemela O, Kristo A, Alho OP
CMAJ 2013 May 14;185(8):E331-6. Epub 2013 Apr 2 doi: 10.1503/cmaj.121852. PMID: 23549975Free PMC Article
Di Pierro F, Adami T, Rapacioli G, Giardini N, Streitberger C
Expert Opin Biol Ther 2013 Mar;13(3):339-43. Epub 2013 Jan 4 doi: 10.1517/14712598.2013.758711. PMID: 23286823
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883
Prescrire Int 1998 Aug;7(36):101-2. PMID: 10342944

Clinical prediction guides

Lyu T, Luo X, Huang CY, Sun Y
Stat Methods Med Res 2021 Oct;30(10):2239-2255. Epub 2021 Aug 26 doi: 10.1177/09622802211027593. PMID: 34445914Free PMC Article
Rigante D, Vitale A, Natale MF, Lopalco G, Andreozzi L, Frediani B, D'Errico F, Iannone F, Cantarini L
Clin Rheumatol 2017 Feb;36(2):463-468. Epub 2016 Jun 1 doi: 10.1007/s10067-016-3317-7. PMID: 27251674
Cantarini L, Rigante D, Merlini G, Vitale A, Caso F, Lucherini OM, Sfriso P, Frediani B, Punzi L, Galeazzi M, Cimaz R, Obici L
Semin Arthritis Rheum 2014 Jun;43(6):818-23. Epub 2013 Dec 12 doi: 10.1016/j.semarthrit.2013.12.002. PMID: 24393624
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883
Buts JP, Barudi C, Moulin D, Claus D, Cornu G, Otte JB
Eur J Pediatr 1986 Oct;145(5):396-400. doi: 10.1007/BF00439246. PMID: 3792384

Recent systematic reviews

Chiappini E, Simeone G, Bergamini M, Pellegrino R, Guarino A, Staiano A, Esposito S, Gattinara GC, Vecchio AL, Stefani S, Iacono ID, Scotese I, Tezza G, Dinardo G, Riccio S, Pellizzari S, Iavarone S, Lorenzetti G, Venturini E, Donà D, Pierantoni L, Doria M, Garazzino S, Midulla F, Cricelli C, Terracciano L, Capuano A, Bruzzese E, Ghiglioni D, Fusani L, Fusco E, Biasci P, Reggiani L, Matera L, Mancino E, Barbieri E, D'Avino A, Cursi L, Sullo MG, Scotti S, Marseglia GL, Di Mauro G, Principi N, Galli L, Verga MC
Ital J Pediatr 2024 Nov 6;50(1):235. doi: 10.1186/s13052-024-01789-5. PMID: 39501298Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2019 Dec 30;12(12):CD008669. doi: 10.1002/14651858.CD008669.pub3. PMID: 31886897Free PMC Article
Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP
Cochrane Database Syst Rev 2014 Sep 11;(9):CD008669. doi: 10.1002/14651858.CD008669.pub2. PMID: 25209127
Burton MJ, Pollard AJ, Ramsden JD
Cochrane Database Syst Rev 2010 Sep 8;(9):CD008669. doi: 10.1002/14651858.CD008669. PMID: 20824883
Blakley BW, Magit AE
Otolaryngol Head Neck Surg 2009 Mar;140(3):291-7. doi: 10.1016/j.otohns.2008.12.013. PMID: 19248931

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...