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X-linked agammaglobulinemia(XLA)

MedGen UID:
65123
Concept ID:
C0221026
Disease or Syndrome
Synonyms: Agammaglobulinemia, Bruton tyrosine kinase; Agammaglobulinemia, BTK; AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; Bruton type agammaglobulinemia; Bruton's agammaglobulinemia; BTK-deficiency; IMMUNODEFICIENCY 1; X-linked Agammaglobulinemia; XLA
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, Orphanet
X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, will be unaffected.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
not inherited (Orphanet)
SNOMED CT: X-linked agammaglobulinemia (65880007); Bruton's type agammaglobulinemia (65880007); Congenital agammaglobulinemia (116133005); Bruton's agammaglobulinemia (65880007); XLA - X-linked agammaglobulinemia (65880007); Bruton's hypogammaglobulinemia (65880007)
 
Gene (location): BTK (Xq22.1)
OMIM®: 300755
Orphanet: ORPHA47

Disease characteristics

Excerpted from the GeneReview: X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin therapy. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Mary Ellen Conley  |  Vanessa C Howard   view full author information

Additional descriptions

From OMIM
X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see 300310. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1; 601495) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.  http://www.omim.org/entry/300755
From GHR
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies. Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. People with XLA can develop severe, life-threatening bacterial infections; however, affected individuals are not particularly vulnerable to infections caused by viruses. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA.  http://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia

Clinical features

Neoplasm
MedGen UID:
227011
Concept ID:
C1306459
Finding
A malignant tumor at the original site of growth.
Recurrent urinary tract infections
MedGen UID:
500878
Concept ID:
CN000011
Finding
Repeated infections of the urinary tract.
Prostatitis
MedGen UID:
504306
Concept ID:
CN000025
Finding
The presence of inflammation of the prostate.
Epididymitis
MedGen UID:
504311
Concept ID:
CN000032
Finding
The presence of inflammation of the epididymis.
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Conjunctivitis
MedGen UID:
504472
Concept ID:
CN000476
Finding
Inflammation of the conjunctiva.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Meningitis
MedGen UID:
504788
Concept ID:
CN001179
Finding
Inflammation of the meninges.
Encephalitis
MedGen UID:
505221
Concept ID:
CN002164
Finding
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Septic arthritis
MedGen UID:
427944
Concept ID:
CN002790
Finding
Enteroviral hepatitis
MedGen UID:
334558
Concept ID:
C1843995
Finding
Diarrhea
MedGen UID:
368098
Concept ID:
C1963091
Finding
Pyoderma
MedGen UID:
504681
Concept ID:
CN000935
Finding
Any manifestation of a skin disease associated with the production of pus.
Cor pulmonale
MedGen UID:
504890
Concept ID:
CN001501
Finding
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Agammaglobulinemia
MedGen UID:
505639
Concept ID:
CN003927
Finding
Absence or extremely low level of generally all classes of gamma-globulin in the blood.
Agammaglobulinemia
MedGen UID:
505639
Concept ID:
CN003927
Finding
Absence or extremely low level of generally all classes of gamma-globulin in the blood.
Pneumonia
MedGen UID:
505095
Concept ID:
CN001891
Finding
Inflammation of any part of the lung parenchyma.
Enteroviral dermatomyositis syndrome
MedGen UID:
334878
Concept ID:
C1844002
Finding
Lymph node hypoplasia
MedGen UID:
400752
Concept ID:
C1865377
Finding
Recurrent urinary tract infections
MedGen UID:
500878
Concept ID:
CN000011
Finding
Repeated infections of the urinary tract.
Pyoderma
MedGen UID:
504681
Concept ID:
CN000935
Finding
Any manifestation of a skin disease associated with the production of pus.
Agammaglobulinemia
MedGen UID:
505639
Concept ID:
CN003927
Finding
Absence or extremely low level of generally all classes of gamma-globulin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGX-linked agammaglobulinemia
Follow this link to review classifications for X-linked agammaglobulinemia in Orphanet.

Recent clinical studies

Etiology

Merchant RH, Parekh D, Ahmad N, Madkaikar M, Ahmed J
Indian J Pediatr 2014 Jan;81(1):92-4. Epub 2013 Jul 20 doi: 10.1007/s12098-013-1113-9. [Epub ahead of print] PMID: 23873299
Vancikova Z, Freiberger T, Vach W, Trojanek M, Rizzi M, Janda A
Klin Padiatr 2013 Nov;225(6):339-42. Epub 2013 Oct 24 doi: 10.1055/s-0033-1354415. [Epub ahead of print] PMID: 24158890
Qin X, Jiang LP, Tang XM, Wang M, Liu EM, Zhao XD
World J Pediatr 2013 Aug;9(3):273-7. Epub 2013 Jan 18 doi: 10.1007/s12519-013-0400-x. [Epub ahead of print] PMID: 23335184
Maarschalk-Ellerbroek LJ, Oldenburg B, Mombers IM, Hoepelman AI, Brosens LA, Offerhaus GJ, Ellerbroek PM
Endoscopy 2013;45(4):320-3. Epub 2013 Jan 16 doi: 10.1055/s-0032-1326078. [Epub ahead of print] PMID: 23325698
Minoda R, Takahashi H, Miyamaru S, Masuda M, Miwa T, Sanuki T, Hirai T, Yumoto E
Auris Nasus Larynx 2012 Dec;39(6):638-40. Epub 2012 Feb 16 doi: 10.1016/j.anl.2011.12.005. [Epub ahead of print] PMID: 22341605

Diagnosis

Chear CT, Ripen AM, Mohamed SA, Dhaliwal JS
Gene 2015 Apr 15;560(2):245-8. Epub 2015 Feb 11 doi: 10.1016/j.gene.2015.02.019. [Epub ahead of print] PMID: 25680287
Zheng B, Zhang Y, Jin Y, Yu H
BMC Pediatr 2014 Oct 15;14:265. doi: 10.1186/1471-2431-14-265. [Epub ahead of print] PMID: 25316352Free PMC Article
Sugimoto K, Nishi H, Miyazawa T, Wada N, Izu A, Enya T, Okada M, Takemura T
BMC Nephrol 2014 Jul 8;15:109. doi: 10.1186/1471-2369-15-109. [Epub ahead of print] PMID: 25005715Free PMC Article
Sato Y, Mishimagi T, Katsuki Y, Harada K
J Oral Maxillofac Surg 2014 Jul;72(7):1396.e1-7. Epub 2014 Jan 15 doi: 10.1016/j.joms.2013.12.034. [Epub ahead of print] PMID: 24947966
Chear CT, Gill HK, Ramly NH, Dhaliwal JS, Bujang N, Ripen AM, Mohamad SB
Asian Pac J Allergy Immunol 2013 Dec;31(4):320-4. doi: 10.12932/AP0304.31.4.2013. PMID: 24383975

Therapy

Zheng B, Zhang Y, Jin Y, Yu H
BMC Pediatr 2014 Oct 15;14:265. doi: 10.1186/1471-2431-14-265. [Epub ahead of print] PMID: 25316352Free PMC Article
Sag AT, Saka E, Ozgur TT, Sanal O, Ayvaz DC, Elibol B, Kurne AT
Cogn Behav Neurol 2014 Sep;27(3):155-9. doi: 10.1097/WNN.0000000000000037. PMID: 25237746
Sugimoto K, Nishi H, Miyazawa T, Wada N, Izu A, Enya T, Okada M, Takemura T
BMC Nephrol 2014 Jul 8;15:109. doi: 10.1186/1471-2369-15-109. [Epub ahead of print] PMID: 25005715Free PMC Article
Ponader S, Burger JA
J Clin Oncol 2014 Jun 10;32(17):1830-9. Epub 2014 Apr 28 doi: 10.1200/JCO.2013.53.1046. [Epub ahead of print] PMID: 24778403
Turvey SE, Leo SH, Boos A, Deans GD, Prendiville J, Crawford RI, Senger C, Conley ME, Tilley P, Junker A, Janz L, Azana R, Hoang L, Morton TL
J Clin Immunol 2012 Dec;32(6):1404-8. Epub 2012 Jul 28 doi: 10.1007/s10875-012-9750-8. [Epub ahead of print] PMID: 22843217

Prognosis

Sag AT, Saka E, Ozgur TT, Sanal O, Ayvaz DC, Elibol B, Kurne AT
Cogn Behav Neurol 2014 Sep;27(3):155-9. doi: 10.1097/WNN.0000000000000037. PMID: 25237746
Staines Boone AT, Torres Martínez MG, López Herrera G, de Leija Portilla JO, Espinosa Padilla SE, Espinosa Rosales FJ, Lugo Reyes SO
J Clin Immunol 2014 Feb;34(2):134-7. Epub 2013 Dec 12 doi: 10.1007/s10875-013-9971-5. [Epub ahead of print] PMID: 24338562
Gonzalo-Garijo MA, Sánchez-Vega S, Pérez-Calderón R, Pérez-Rangel I, Corrales-Vargas S, Fernández de Mera JJ, Robles R
J Clin Immunol 2014 Jan;34(1):119-22. Epub 2013 Nov 30 doi: 10.1007/s10875-013-9972-4. [Epub ahead of print] PMID: 24292696
Pituch-Noworolska A, Zwonarz K, Błaut-Szlósarczyk A, Szaflarska A, Kowalczyk D, Siedlar M
Przegl Lek 2013;70(12):1048-50. PMID: 24720125
Vancikova Z, Freiberger T, Vach W, Trojanek M, Rizzi M, Janda A
Klin Padiatr 2013 Nov;225(6):339-42. Epub 2013 Oct 24 doi: 10.1055/s-0033-1354415. [Epub ahead of print] PMID: 24158890

Clinical prediction guides

Zheng B, Zhang Y, Jin Y, Yu H
BMC Pediatr 2014 Oct 15;14:265. doi: 10.1186/1471-2431-14-265. [Epub ahead of print] PMID: 25316352Free PMC Article
Merchant RH, Parekh D, Ahmad N, Madkaikar M, Ahmed J
Indian J Pediatr 2014 Jan;81(1):92-4. Epub 2013 Jul 20 doi: 10.1007/s12098-013-1113-9. [Epub ahead of print] PMID: 23873299
Pituch-Noworolska A, Zwonarz K, Błaut-Szlósarczyk A, Szaflarska A, Kowalczyk D, Siedlar M
Przegl Lek 2013;70(12):1048-50. PMID: 24720125
Marron TU, Martinez-Gallo M, Yu JE, Cunningham-Rundles C
J Allergy Clin Immunol 2012 Jan;129(1):184-90.e1-4. Epub 2011 Nov 16 doi: 10.1016/j.jaci.2011.10.009. [Epub ahead of print] PMID: 22088613Free PMC Article
Kawakami C, Inoue A, Takitani K, Kanegane H, Miyawaki T, Tamai H
Acta Paediatr 2011 Mar;100(3):466-8. Epub 2010 Nov 17 doi: 10.1111/j.1651-2227.2010.02071.x. [Epub ahead of print] PMID: 20977495

Recent systematic reviews

Estrella L, Foley ME, Cunningham-Rundles C
J Am Acad Nurse Pract 2007 Apr;19(4):205-11. doi: 10.1111/j.1745-7599.2007.00213.x. PMID: 17430541

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