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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.
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Frequent Giardia lamblia infestation
MedGen UID:
870778
Concept ID:
C4025235
Finding
Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.
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\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\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\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.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
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.
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.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.

Professional guidelines

PubMed

Bettonte S, Berton M, Stader F, Battegay M, Marzolini C
Clin Infect Dis 2023 Apr 3;76(7):1225-1236. doi: 10.1093/cid/ciac901. PMID: 36377436Free PMC Article
Moore S, Rady P, Tyring S
Int J Dermatol 2022 Nov;61(11):1325-1335. Epub 2021 Aug 17 doi: 10.1111/ijd.15857. PMID: 34403500
Weli M, Ben Hlima A, Belhadj R, Maalej B, Elleuch A, Mekki N, Gargouri L, Kamoun T, Barbouche MR, Mahfoudh A
Transfus Clin Biol 2020 Apr;27(2):61-64. Epub 2020 Mar 30 doi: 10.1016/j.tracli.2020.03.003. PMID: 32280062

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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