Educational paper

Abstract

The syndromic primary immunodeficiencies are disorders in which not only the immune system but also other organ systems are affected. Other features most commonly involve the ectodermal, skeletal, nervous, and gastrointestinal systems. Key in identifying syndromic immunodeficiencies is the awareness that increased susceptibility to infections or immune dysregulation in a patient known to have other symptoms or special features may hint at an underlying genetic syndrome. Because the extraimmune clinical features can be highly variable, it is more difficult establishing the correct diagnosis. Nevertheless, correct diagnosis at an early age is important because of the possible treatment options. Therefore, diagnostic work-up is best performed in a center with extensive expertise in this field, having immunologists and clinical geneticists, as well as adequate support from a specialized laboratory at hand. This paper provides the general pediatrician with the main clinical features that are crucial for the recognition of these syndromes.

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

“…Down syndrome is therefore recognized as a SPID and in recent years various other SPIDs have been identified, amongst others diGeorge syndrome [ 25 , 26 ]. These SPIDs are disorders in which not only the immune system but also other organ systems are affected and in contrast to other primary immunodeficiencies, other features than the immune defects are the presenting symptoms [ 27 ]. We propose that JS should also be considered as a SPID, based on the susceptibility to infections as well as the immune cell defects described.…”

Educational paper

“…A deregulation of the CSR process itself is caused by AID [ 45 ], UNG [ 27 ], NEMO [ 30 ], and PMS2 [ 40 ] deficiency. X-linked anhidrotic ectodermal dysplasia with immunodeficiency secondary to mutations in NEMO gives a much broader immunodeficiency in addition to the CSR defect and has been described in the EJP review on syndromic primary immunodeficiencies of Kersseboom et al [ 34 ] in this journal. The immune defect in AID and UNG deficiency is limited to the B cell lineage.…”

“…Growth monitoring is important because one third of the patients develops a growth retardation [ 54 ], which is associated with recurrent infectious episodes, but can also develop irrespective of infectious complications secondary to disturbances of the growth hormone axis [ 17 , 55 ]. A combination of short stature and antibody deficiency may also have its origin in a syndromic form of primary immunodeficieny [ 34 ].…”

Le déficit immunitaire humoral: mieux le connaître pour mieux le prendre en charge

“…La dysplasie anhidrotique ectodermique liée à l'X avec déficit immunitaire secondaire à des mutations dans NEMO donnerait une immunodéficience beaucoup plus large en plus du défaut de commutation isotypique de classe d'immunoglobuline [ 30 ] dans ce journal. - Le déficit immunitaire lié aux mutations des gènes de l′AID et l'UNG est causé par un dysfonctionnement limité à la lignée des lymphocytes B. Ces patients sont vus habituellement à un âge plus avancé que les patients présentant un déficit en CD40L.…”

“…La surveillance de la croissance est importante car un tiers des patients développe un retard de croissance [ 42 ], qui est dû aux épisodes d'infections récurrentes, mais peut aussi se développer indépendamment des complications infectieuses et être causé par une perturbation de l′axe de l'hormone de croissance [ 44 , 45 ]. Une association chez le patient d'une petite taille à un déficit immunitaire peut aussi avoir son origine d'une forme syndromique d'immunodéficience primaire [ 30 ].…”