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Agammaglobulinemia, non-Bruton type(AGM1)

MedGen UID:
316941
Concept ID:
C1832241
Disease or Syndrome
Synonyms: AGAMMAGLOBULINEMIA 1; AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; Agammaglobulinemia due to early proB cell defect; Agammaglobulinemia, autosomal recessive; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT; AGM1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): IGHM (14q32.33)
OMIM®: 601495

Definition

Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; 300755), also known as Bruton disease, which is caused by mutation in the BTK gene (300300). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) gave a comprehensive review of autosomal recessive agammaglobulinemia. Genetic Heterogeneity of Autosomal Agammaglobulinemia Autosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 (613500), caused by mutation in the IGLL1 gene (146770); AGM3 (613501), caused by mutation in the CD79A gene (112205); AGM4 (613502), caused by mutation in the BLNK gene (604515); AGM5 (613506), caused by disruption of the LRRC8 gene (608360); AGM6 (612692), caused by mutation in the CD79B gene (147245); AGM7 (615214), caused by mutation in the PIK3R1 gene (171833); and AGM8 (616941), caused by mutation in the TCF3 gene (147141). [from OMIM]

Clinical features

Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Agammaglobulinemia
MedGen UID:
168
Concept ID:
C0001768
Disease or Syndrome
Absence of the gamma fraction of serum globulin
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Crohn disease
MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an abnormal reaction by the body's immune system. It also seems to run in some families. It most commonly starts between the ages of 13 and 30. The most common symptoms are pain in the abdomen and diarrhea. Other symptoms include. -Bleeding from the rectum. -Weight loss. -Fever. Your doctor will diagnose Crohn's disease with a physical exam, lab tests, imaging tests, and a colonoscopy. Crohn's can cause complications, such as intestinal blockages, ulcers in the intestine, and problems getting enough nutrients. People with Crohn's can also have joint pain and skin problems. Children with the disease may have growth problems. There is no cure for Crohn's. Treatment can help control symptoms, and may include medicines, nutrition supplements, and/or surgery. Some people have long periods of remission, when they are free of symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. . Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. . Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Agammaglobulinemia
MedGen UID:
168
Concept ID:
C0001768
Disease or Syndrome
Absence of the gamma fraction of serum globulin
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Crohn disease
MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an abnormal reaction by the body's immune system. It also seems to run in some families. It most commonly starts between the ages of 13 and 30. The most common symptoms are pain in the abdomen and diarrhea. Other symptoms include. -Bleeding from the rectum. -Weight loss. -Fever. Your doctor will diagnose Crohn's disease with a physical exam, lab tests, imaging tests, and a colonoscopy. Crohn's can cause complications, such as intestinal blockages, ulcers in the intestine, and problems getting enough nutrients. People with Crohn's can also have joint pain and skin problems. Children with the disease may have growth problems. There is no cure for Crohn's. Treatment can help control symptoms, and may include medicines, nutrition supplements, and/or surgery. Some people have long periods of remission, when they are free of symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Recurrent bacterial infection
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Recurrent enteroviral infections
MedGen UID:
871203
Concept ID:
C4025681
Finding
Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.
Agammaglobulinemia
MedGen UID:
168
Concept ID:
C0001768
Disease or Syndrome
Absence of the gamma fraction of serum globulin
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.

Recent clinical studies

Etiology

Jolles S, Bernatowska E, de Gracia J, Borte M, Cristea V, Peter HH, Belohradsky BH, Wahn V, Neufang-Hüber J, Zenker O, Grimbacher B
Clin Immunol 2011 Oct;141(1):90-102. Epub 2011 Jun 12 doi: 10.1016/j.clim.2011.06.002. [Epub ahead of print] PMID: 21705277

Diagnosis

Lougaris V, Vitali M, Baronio M, Moratto D, Tampella G, Biasini A, Badolato R, Plebani A
J Clin Immunol 2014 May;34(4):425-7. Epub 2014 Apr 11 doi: 10.1007/s10875-014-0033-4. [Epub ahead of print] PMID: 24722855
Khalili A, Plebani A, Vitali M, Abolhassani H, Lougaris V, Mirminachi B, Rezaei N, Aghamohammadi A
J Clin Immunol 2014 Feb;34(2):138-41. Epub 2014 Feb 1 doi: 10.1007/s10875-014-9989-3. [Epub ahead of print] PMID: 24481606
Vickery JD, Michael CF, Lew DB
Cardiovasc Hematol Disord Drug Targets 2013 Aug;13(2):133-43. PMID: 23988001

Therapy

Jolles S, Bernatowska E, de Gracia J, Borte M, Cristea V, Peter HH, Belohradsky BH, Wahn V, Neufang-Hüber J, Zenker O, Grimbacher B
Clin Immunol 2011 Oct;141(1):90-102. Epub 2011 Jun 12 doi: 10.1016/j.clim.2011.06.002. [Epub ahead of print] PMID: 21705277

Prognosis

Vickery JD, Michael CF, Lew DB
Cardiovasc Hematol Disord Drug Targets 2013 Aug;13(2):133-43. PMID: 23988001

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