hyper-IgM syndrome type 1
The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.
Also known as: HIGM1, Hyper IgM Syndromes, X-linked hyper-IgM syndrome, XHIGM, hyper-IgM syndrome due to CD40 ligand deficiency, hyper-IgM syndrome due to CD40L deficiency, hyper-IgM syndrome type 1, hyper-IgM syndrome, X-linked, hyperimmunoglobulin M syndrome, immunodeficiency, X-linked, with hyper-IgM, X-linked recessive.
Category: General
Symptoms associated with hyper-IgM syndrome type 1
The following symptoms have been associated with hyper-IgM syndrome type 1 in medical literature. Not everyone experiences the same symptoms.
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Hoarse voice
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy...
Impaired Ig class switch recombination
An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA,...
Muscle weakness
Reduced strength of muscles....
Myalgia
Pain in muscle....
Periorbital fullness
Increase in periorbital soft tissue....
Tests used to investigate hyper-IgM syndrome type 1
Healthcare providers may order these tests when evaluating hyper-IgM syndrome type 1. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with hyper-IgM syndrome type 1, which is why a clinical evaluation is important.
Gitelman syndrome
Gitelman syndrome is a medical condition that may be associated with various symptoms and signs....
Hemorrhagic fever-renal syndrome
Hemorrhagic fever-renal syndrome is a medical condition that may be associated with various symptoms and signs...
Idiopathic hypereosinophilic syndrome
Idiopathic hypereosinophilic syndrome is a medical condition that may be associated with various symptoms and ...
Lujo hemorrhagic fever
Lujo hemorrhagic fever is a medical condition that may be associated with various symptoms and signs....
Steinert myotonic dystrophy
Steinert myotonic dystrophy is a medical condition that may be associated with various symptoms and signs....
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
Frequently Asked Questions
What is hyper-IgM syndrome type 1?
hyper-IgM syndrome type 1 is a health condition described in medical literature. The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.
What are the symptoms of hyper-IgM syndrome type 1?
hyper-IgM syndrome type 1 is associated with 7 symptoms in the medical literature we index, including Diarrhea, Failure to thrive, Hoarse voice, Impaired Ig class switch recombination, Muscle weakness, Myalgia. Symptoms vary widely between individuals.
How is hyper-IgM syndrome type 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with hyper-IgM syndrome type 1 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have hyper-IgM syndrome type 1, please discuss your symptoms with a qualified healthcare provider.