IMMUNOLOGY TEXTBOOK - Mercury Podillia 2013

CONGENITAL IMMUNE DEFICIENCY

Physical Examination

Patients with severe immunodeficiency typically present with pallor, lethargy, irritability, and weight loss. Normal growth and a standard level of physical activity in a child make an immunodeficiency Diagnosis unlikely. The physical examination should focus on the following aspects.

Height and weight. Children with cellular immune deficiencies often experience developmental delays, frequently compounded by chronic diarrhea. Conversely, most children with humoral immune deficiencies develop normally. Monitoring a child's physical development serves as a key indicator of Treatment efficacy.

Lymphatic system. In humoral and cellular immunodeficiencies, the palatine and pharyngeal Tonsils, as well as peripheral Lymph Nodes, are typically reduced in size or absent. However, certain immunodeficiencies—such as Letterer-Siwe disease, hyper-IgM syndrome, common variable hypogammaglobulinemia, Omenn syndrome, and graft-versus-host disease—may present with lymphadenopathy and hepatosplenomegaly.

Mucocutaneous candidiasis. Unlike healthy infants, children with cellular immune deficiencies (such as DiGeorge syndrome, Wiskott-Aldrich syndrome, or severe combined immunodeficiency) experience severe and prolonged oral candidiasis. Candidiasis associated with immunodeficiency is characterized by: 1) the absence of predisposing factors (such as antibiotic or corticosteroid therapy, or transmission during breastfeeding); 2) a protracted course; 3) treatment resistance; 4) a relapsing pattern; 5) esophageal candidiasis; and 6) persistent Skin lesions.

Ear and Nose disorders. Chronic suppurative otitis media is frequently observed, accompanied by tympanic membrane perforation and scarring, otorrhea, as well as chronic sinusitis and rhinitis.

Digital clubbing, an increased anteroposterior chest diameter, and persistent rales are observed in HIV-infected children with lymphocytic interstitial pneumonitis. These clinical signs also occur in Chronic Bronchitis and Bronchiectasis.

Phagocytic deficiencies are frequently accompanied by periodontitis.

Skin and mucosal ulceration. Immunodeficiencies, particularly severe cellular immune deficiencies, are frequently complicated by ulceration of the Tongue, oral mucosa, and perianal region.

Pyogenic skin and subcutaneous infections are characteristic of phagocytic defects. Impaired leukocyte adhesion and hyper-IgE syndrome can lead to The formation of chronic abscesses. Other cutaneous manifestations of immunodeficiencies include the following.

- A seborrheic dermatitis-like rash associated with severe combined immunodeficiency, Letterer-Siwe disease, Omenn syndrome, and graft-versus-host disease.

- Atopic dermatitis associated with severe combined immunodeficiency, Wiskott-Aldrich syndrome, hyper-IgE syndrome, and hypogammaglobulinemia.

- Lupus-like skin lesions associated with deficiencies of Complement components C1q, C1r, C4, C2, C5, C6, C7, and C8, isolated IgA deficiency, and common variable hypogammaglobulinemia.

- Dermatomyositis associated with X-linked agammaglobulinemia and occasionally with C2 deficiency. In X-linked agammaglobulinemia, The Development of dermatomyositis is presumably triggered by echovirus infection.

Viral encephalitis is accompanied by pronounced neurological impairment, psychomotor developmental delays, and can be fatal. It is particularly common in cellular immune deficiencies and severe combined immunodeficiency. X-linked agammaglobulinemia may be complicated by echovirus-induced encephalomyelitis.

Arthritis and arthralgia frequently accompany humoral immune deficiencies.

Immunodeficiencies may be complicated by chronic Conjunctivitis caused by Haemophilus influenzae.

Delayed umbilical cord Separation is characteristic of leukocyte adhesion deficiency. It is caused by a deficiency of CD11/CD18 leukocyte adhesion molecules on The Cell surface, resulting in impaired phagocytic activity.