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Immunodeficiency 61(IMD61)

MedGen UID:
337462
Concept ID:
C1845903
Disease or Syndrome
Synonyms: AGMX2; IMD61
 
Gene (location): SH3KBP1 (Xp22.12)
 
Monarch Initiative: MONDO:0010296
OMIM®: 300310

Definition

Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by Keller et al., 2018). For a general phenotypic description of X-linked agammaglobulinemia, see 300755. [from OMIM]

Clinical features

From HPO
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.
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.
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
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.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Decreased circulating IgG2 level
MedGen UID:
867187
Concept ID:
C4021545
Finding
A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.
Decreased circulating IgG4 level
MedGen UID:
1704015
Concept ID:
C5139156
Finding
A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.

Professional guidelines

PubMed

Gonzalez C
Curr Opin Pediatr 2022 Feb 1;34(1):61-70. doi: 10.1097/MOP.0000000000001092. PMID: 34907131
Lang-Meli J, Fuchs J, Mathé P, Ho HE, Kern L, Jaki L, Rusignuolo G, Mertins S, Somogyi V, Neumann-Haefelin C, Trinkmann F, Müller M, Thimme R, Umhau M, Quinti I, Wagner D, Panning M, Cunningham-Rundles C, Laubner K, Warnatz K
J Clin Immunol 2022 Feb;42(2):253-265. Epub 2021 Dec 10 doi: 10.1007/s10875-021-01193-2. PMID: 34893946Free PMC Article
Robbins MR
Dent Clin North Am 2017 Apr;61(2):365-387. doi: 10.1016/j.cden.2016.12.006. PMID: 28317571

Recent clinical studies

Etiology

Bauhofer A, Dietrich RL, Schmeidl R
Int J Clin Pharmacol Ther 2015 Jan;53(1):21-31. doi: 10.5414/CP202204. PMID: 25345431

Therapy

Bauhofer A, Dietrich RL, Schmeidl R
Int J Clin Pharmacol Ther 2015 Jan;53(1):21-31. doi: 10.5414/CP202204. PMID: 25345431

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