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Agammaglobulinemia 10, autosomal dominant(AGM10)

MedGen UID:
1806624
Concept ID:
C5676900
Disease or Syndrome
Synonyms: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT; AGM10
 
Gene (location): SPI1 (11p11.2)
 
Monarch Initiative: MONDO:0030529
OMIM®: 619707

Definition

Autosomal dominant agammaglobulinemia-10 (AGM10) is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported (summary by Le Coz et al., 2021). For a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 (601495). [from OMIM]

Clinical features

From HPO
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Agammaglobulinemia
MedGen UID:
168
Concept ID:
C0001768
Disease or Syndrome
A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
Inflammation of the meninges.
Decreased circulating IgA concentration
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Absent circulating B cells
MedGen UID:
868166
Concept ID:
C4022558
Finding
Complete lack of mature B cells, that is, of B cells that have left the bone marrow.
Transient neutropenia
MedGen UID:
1692023
Concept ID:
C5139431
Finding
A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.
Decreased circulating IgG concentration
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

Recent clinical studies

Etiology

Khoshnevisan R, Hassanzadeh S, Klein C, Rohlfs M, Grimbacher B, Molavi N, Zamanifar A, Khoshnevisan A, Jafari M, Bagherpour B, Behnam M, Najafi S, Sherkat R
Immunogenetics 2024 Jun;76(3):189-202. Epub 2024 Apr 29 doi: 10.1007/s00251-024-01342-y. PMID: 38683392
Sogkas G, Dubrowinskaja N, Adriawan IR, Anim M, Witte T, Schmidt RE, Atschekzei F
Ann Rheum Dis 2021 Mar;80(3):392-399. Epub 2020 Oct 12 doi: 10.1136/annrheumdis-2020-218280. PMID: 33046446
Nijenhuis T, Klasen I, Weemaes CM, Preijers F, de Vries E, van der Meer JW
Neth J Med 2001 Sep;59(3):134-9. doi: 10.1016/s0300-2977(01)00151-6. PMID: 11583829

Diagnosis

Khoshnevisan R, Hassanzadeh S, Klein C, Rohlfs M, Grimbacher B, Molavi N, Zamanifar A, Khoshnevisan A, Jafari M, Bagherpour B, Behnam M, Najafi S, Sherkat R
Immunogenetics 2024 Jun;76(3):189-202. Epub 2024 Apr 29 doi: 10.1007/s00251-024-01342-y. PMID: 38683392
Sogkas G, Dubrowinskaja N, Adriawan IR, Anim M, Witte T, Schmidt RE, Atschekzei F
Ann Rheum Dis 2021 Mar;80(3):392-399. Epub 2020 Oct 12 doi: 10.1136/annrheumdis-2020-218280. PMID: 33046446
Glocker E, Ehl S, Grimbacher B
Curr Opin Pediatr 2007 Dec;19(6):685-92. doi: 10.1097/MOP.0b013e3282f1ddd5. PMID: 18025937
Nijenhuis T, Klasen I, Weemaes CM, Preijers F, de Vries E, van der Meer JW
Neth J Med 2001 Sep;59(3):134-9. doi: 10.1016/s0300-2977(01)00151-6. PMID: 11583829

Prognosis

Sogkas G, Dubrowinskaja N, Adriawan IR, Anim M, Witte T, Schmidt RE, Atschekzei F
Ann Rheum Dis 2021 Mar;80(3):392-399. Epub 2020 Oct 12 doi: 10.1136/annrheumdis-2020-218280. PMID: 33046446
Nijenhuis T, Klasen I, Weemaes CM, Preijers F, de Vries E, van der Meer JW
Neth J Med 2001 Sep;59(3):134-9. doi: 10.1016/s0300-2977(01)00151-6. PMID: 11583829

Clinical prediction guides

Sogkas G, Dubrowinskaja N, Adriawan IR, Anim M, Witte T, Schmidt RE, Atschekzei F
Ann Rheum Dis 2021 Mar;80(3):392-399. Epub 2020 Oct 12 doi: 10.1136/annrheumdis-2020-218280. PMID: 33046446

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