Case reportsSelective IgM deficiency and 22q11.2 deletion syndrome
Section snippets
INTRODUCTION
The 22q11.2 deletion syndrome is one of the most common chromosomal disorders, with an estimated prevalence of 1:4,000 to 1:6,000.1, 2, 3 Phenotypic expression is highly variable, with clinical presentations ranging from DiGeorge and velocardiofacial syndromes to velopharyngeal insufficiency (VPI) and schizophrenia.4, 5 Similarly, the effect on the immune system varies widely. Whereas earlier studies described severe cellular immunodeficiency in patients with DiGeorge syndrome, more recent
Case 1
A 6-year-old white boy was referred for evaluation of chronic rhinitis and recurrent infections. He was born at term to unrelated parents. Recurrent otitis media (OM) with tympanic membrane perforations began in early infancy, for which myringotomy tubes (MTs) were inserted on 2 occasions. An adenoidectomy was performed with the latter. At 3 years of age, speech therapy was initiated for speech delay. Other infections included 2 episodes of pneumonia and sinusitis and several impetiginous skin
DISCUSSION
We describe 2 additional patients with SIgMD associated with 22q11.2 deletion and review the common features of these patients and the previously described patient with the same association. Their clinical presentation is consistent with the known variable phenotype of 22q11.2 deletion syndrome. The diagnosis of 22q11.2 deletion was delayed until late childhood in all 3 patients. Other than a decreased IgM level and a suboptimal pneumococcal response in patient 3, findings from their immune
CONCLUSION
In summary, we suggest that SIgMD may be associated with 22q11.2 deletion syndrome. Review of the literature shows that decreased IgM levels and IgM deficiency occur with 22q11.2 deletion but are not as common as selective IgA deficiency.7 Cytogenetic FISH analysis for chromosome 22q11.2 deletion syndrome should be considered in a patient diagnosed as having SIgMD if there are other findings, such as chronic or recurrent OM, developmental delay, VPI, or phenotypic features of 22q11.2 deletion
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Cited by (21)
The immune system in 22q11.2 deletion syndrome
2022, The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and TreatmentClinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center
2019, BloodCitation Excerpt :Selective IgM deficiency (SIGMD) represents a poorly defined and underrecognized primary immunodeficiency, characterized in ∼80% of the cases by increased risk of infections, allergy, and autoimmunity.31 It has been reported in association with different chromosomal abnormalities or genetic syndromes including chromosome 1, 18, and 22q11.2 deletions, and Silver Russel syndrome.32-37 In our cohort, IgM deficiency represented the most common humoral defect.
Thymus Abnormalities: DiGeorge Syndrome and Winged Helix Deficiency
2016, Encyclopedia of ImmunobiologyPrimary immunodeficiency association with systemic lupus erythematosus: Review of literature and lessons learned by the Rheumatology Division of a tertiary university hospital at São Paulo, Brazil
2016, Revista Brasileira de ReumatologiaCitation Excerpt :One reported case describes a 15-year-old female presenting a 22q11.2 deletion syndrome (partial DiGeorge Syndrome) who presented recurrent and chronic otitis media, developmental delay, not associated with any other immunologic defects.42 Patients with IgMD and 22q11.2 deletion syndrome may present sinopulmonary recurrent infections, which typically respond to conventional antibiotic therapy without the need of prolonged antibiotic use or intravenous immunoglobulin therapy (IVIg).43 In IgMD patients, recurrent respiratory tract infections, asthma, allergic rhinitis, vasomotor rhinitis, angioedema, and anaphylaxis have been described.44
The Immune Phenotype of Patients with CHARGE Syndrome
2016, Journal of Allergy and Clinical Immunology: In PracticeCitation Excerpt :In our own 22qDS cohort, 43% of the tested patients had SAD, although we cannot exclude a testing bias because these data were collected retrospectively and the patients with 22qDS tested were slightly younger. Patients with 22qDS also had lower IgM levels compared with patients with CHARGE syndrome, which is consistent with previous case reports of low IgM in this group of patients.22,23 Lymphopenia is also a common finding in children with 22qDS, with the majority of children found to have reduced lymphocyte counts.7
The prevalence of Selective Immunoglobulin M Deficiency (SIgMD) in Iranian volunteer blood donors
2016, Human ImmunologyCitation Excerpt :No complement or phagocytosis deficit has been reported. Chromosomal anomalies, such as partial deletion of chromosome 18 [22], chromosome 1 deletions [23], and chromosome 22q11.2 deletion [24] have been reported in a limited number of cases. SIgMD can be asymptomatic or with infections caused by encapsulated or gram negative microorganisms [1,7,25].
The opinions and assertions contained herein are the views of the authors and are not to be construed as official or as reflecting the views of the United States Department of Defense.
Authors have nothing to disclose.