Frequency and Clinical Manifestations of Patients with Primary Immunodeficiency Disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry

Abstract

Primary immunodeficiency disorders (PID) are a heterogeneous group of diseases, characterized by an increased susceptibility to infections. A total of 930 patients (573 males and 357 females) are registered in Iranian PID Registry (IPIDR) during three decades. Predominantly antibody deficiencies were the most common (38.4%), followed by congenital defects of phagocyte number and/or function (28.3%), other well-defined immunodeficiency syndromes (17.7%), combined T- and B-cell immunodeficiencies (11.0%), complement deficiencies (2.4%), and diseases of immune dysregulation (2.3%). Common variable immunodeficiency was the most frequent disorder (20.8%), followed by chronic granulomatous disease, ataxia-telangiectasia, btk deficiency, selective IgA deficiency, and T-B-severe combined immunodeficiency. The frequency of other PID disorders was less than 50 in number (<5%). There is an increasing trend in recognition of more PID in the recent years. Construction of such registry is not only important for its epidemiological aspect but also for its role in increasing the physician's knowledge about such disorders.

Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders

“…Pneumonia as a complication of the lower respiratory tract is one of the most frequent manifestations of PID and determines prognosis. Frequent pneumonia (more than 2 episodes in a year for children and in 3 years for adults) is 1 of the 10 general warning signs of PID suggested by the Jeffrey Modell Foundation [14], and retrospective studies have shown pneumonia to be the top presenting feature in PID [48,49]. In a cohort study, we demonstrated that pneumonia was the most common first presentation of PID in 23.4% of patients [3].…”

Adaptive immunity to murine skin commensals

“…In humans deficient in T and B cells, about a third show infectious cutaneous manifestations (4). T and B cell deficiency (TB − ) that is specifically due to recombination activating gene (Rag) mutations similarly show a high frequency of cutaneous manifestations (5).…”

“…These clinical findings implicate adaptive immunity in skin host defense in man. Susceptibility to disseminated mycobacterial infections is often seen in TB − severe combined immunodeficiency patients (SCID) with disseminated bacillus Calmette-Guérin (4). A Rag2-deficient SCID was reported with disseminated bacillus Calmette-Guérin (6) and a Rag1 hypomorphic patient was reported with disseminated nontuberculous mycobacteria (7).…”

Primary Immunodeficiency Diseases in Latin America: Epidemiology and Perspectives

“…Brazil reported 50 cases of deficiency complement, followed by 13 reports of Argentina (Leiva et al, 2007). Like others studies, predominantly antibody deficiency was the principal PID observed in Latin America, Australia (Baumgart et al, 1997;Kirkpatrick et al, 2007), China (Zhao et al, 2006;Wang et al, 2011), Egypt (Reda et al, 2009), French (CEREDIH, 2010, Hong Kong (Lam et al, 2005), Iran (Aghamohammadi et al, 2002;Farhoudi et al, 2005;Rezaei et al, 2006), Italy (Luzi et al, 1983), Kuwait (AlHerz, 2008), Netherland (Zegers et al, 1994), Norway (Stray-Pedersen et al, 2000), Poland (Bernatowska et al, 1998), Republic of Ireland (Abuzakouk et al, 2005), Spain (Matamoros et al, 1997;Milá et al, 2001), Swiss (Ryser et al, 1998), Taiwan (Lee et al, 2011), Thailand (Benjasupattananan et al, 2009), Tunisia (Bejaoui et al, 1997) and USA (Javier et al, 2000;Stiehm, 2007), Studies in other countries reveled major number of granulocyte dysfunction in India (Verma et al, 2008), and Combined T-and B-cell Immunodeficiency in Turk (Shabestari et al, 2007).…”